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Sample records for anchored reference genetic

  1. Sequenced BAC anchored reference genetic map that reconciles the ten individual chromosomes of Brassica rapa

    OpenAIRE

    Park Beom-Seok; Jin Mina; Van Nguyen Dan; Hossain Md; Lee Seo; Hong Chang; Bae Jina; Choi Su; Kim HyeRan; Bang Jea-Wook; Bancroft Ian; Lim Yong

    2009-01-01

    Abstract Background In view of the immense value of Brassica rapa in the fields of agriculture and molecular biology, the multinational Brassica rapa Genome Sequencing Project (BrGSP) was launched in 2003 by five countries. The developing BrGSP has valuable resources for the community, including a reference genetic map and seed BAC sequences. Although the initial B. rapa linkage map served as a reference for the BrGSP, there was ambiguity in reconciling the linkage groups with the ten chromos...

  2. Genetics Home Reference

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Genetics Home Reference Past Issues / Spring 2007 Table of ... of this page please turn Javascript on. The Genetics Home Reference (GHR) Web site — ghr.nlm.nih. ...

  3. Genetics Home Reference: cystinuria

    Science.gov (United States)

    ... for This Page Claes DJ, Jackson E. Cystinuria: mechanisms and management. Pediatr Nephrol. 2012 Nov;27(11): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  4. Genetics Home Reference: Genetic Conditions

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Health Conditions Explore the signs ...

  5. Genetics Home Reference: adermatoglyphia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adermatoglyphia adermatoglyphia Enable Javascript to ...

  6. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... links) Disease InfoSearch: Phenylketonuria Genetic Science Learning Center, University of Utah Genetics Education Materials for School Success (GEMSS) MalaCards: phenylketonuria March of Dimes Montreal Children's Hospital My46 Trait Profile New England Consortium of Metabolic ...

  7. Genetics Home Reference: trimethylaminuria

    Science.gov (United States)

    ... Primary Trimethylaminuria Genetic Testing Registry: Trimethylaminuria Monell Chemical Senses Center: TMAU & Body Malodors National Human Genome Research Institute: Diagnosis and Treatment of Trimethylaminuria ...

  8. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  9. Genetics Home Reference: nephronophthisis

    Science.gov (United States)

    ... which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or ... management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ...

  10. Genetics Home Reference: aniridia

    Science.gov (United States)

    ... eyes. Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  11. Genetics Home Reference: preeclampsia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions preeclampsia preeclampsia Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Preeclampsia is a complication of pregnancy in which affected ...

  12. Genetics Home Reference: achromatopsia

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of achromatopsia: GeneReview: Achromatopsia Genetic Testing Registry: Achromatopsia MedlinePlus Encyclopedia: Color Vision Test These resources from MedlinePlus offer information about ...

  13. Genetics Home Reference: choroideremia

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of choroideremia: GeneReview: Choroideremia Genetic Testing Registry: Choroideremia MedlinePlus Encyclopedia: Vision - night blindness MedlinePlus Encyclopedia: Visual field These resources ...

  14. Genetics Home Reference: retinoblastoma

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions retinoblastoma retinoblastoma Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Retinoblastoma is a rare type of eye cancer that ...

  15. Genetics Home Reference: schizophrenia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions schizophrenia schizophrenia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Schizophrenia is a mental health disorder classified as a ...

  16. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... All Open All Close All Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... address the diagnosis or management of SADDAN: GeneReview: Achondroplasia Genetic Testing Registry: Severe achondroplasia with developmental delay ...

  17. Genetics Home Reference: pseudoachondroplasia

    Science.gov (United States)

    ... related to another disorder of bone growth called achondroplasia , but without that disorder's characteristic facial features. More ... Additional Information & Resources MedlinePlus (1 link) Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  18. Genetics Home Reference: achondroplasia

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions achondroplasia achondroplasia Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Achondroplasia is a form of short-limbed dwarfism. The ...

  19. Genetics Home Reference: galactosialidosis

    Science.gov (United States)

    ... Diseases ISMRD: The International Advocate for Glycoprotein Storage Diseases ... Maaswinkel-Mooy P, Smit V, van der Hoeven M, Bakker J, Campos Y, d'Azzo A. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet Metab. ...

  20. Genetics Home Reference: narcolepsy

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions narcolepsy narcolepsy Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Narcolepsy is a chronic sleep disorder that disrupts the ...

  1. Genetics Home Reference: sialidosis

    Science.gov (United States)

    ... syndrome Related Information How are genetic conditions and genes named? ... Morrone A. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J ...

  2. Genetics Home Reference: vitiligo

    Science.gov (United States)

    ... Exp Dermatol. 2009 Jul;18(7):583-5. doi: 10.1111/j.1600-0625.2008.00826.x. ... Med Surg. 2009 Jun;28(2):86-92. doi: 10.1016/j.sder.2009.04.008. Review. ... Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272. Citation on PubMed or ...

  3. Genetics Home Reference: globozoospermia

    Science.gov (United States)

    ... of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Citation on PubMed or Free article on PubMed Central Koscinski I, Elinati E, Fossard ...

  4. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  5. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... Cicardi M. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Trends Mol Med. 2009 Feb; ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  6. Genetics Home Reference: Huntington disease

    Science.gov (United States)

    ... Citation on PubMed Jones L, Hughes A. Pathogenic mechanisms in Huntington's disease. Int Rev Neurobiol. 2011;98: ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  7. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  8. Genetics Home Reference: familial atrial fibrillation

    Science.gov (United States)

    ... or Free article on PubMed Central Roberts R. Mechanisms of disease: Genetic mechanisms of atrial fibrillation. Nat Clin Pract Cardiovasc Med. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  9. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Waardenburg syndrome Waardenburg syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Waardenburg syndrome is a group of genetic conditions that can ...

  10. Genetics Home Reference: ocular albinism

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions ocular albinism ocular albinism Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Ocular albinism is a genetic condition that primarily affects ...

  11. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, ... Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are genetic conditions diagnosed? How ...

  12. Genetics Home Reference: pachyonychia congenita

    Science.gov (United States)

    ... with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10. ... molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10. ...

  13. Genetics Home Reference: Northern epilepsy

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Northern epilepsy Northern epilepsy Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Northern epilepsy is a genetic condition that causes recurrent seizures ( ...

  14. Genetics Home Reference: Partington syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Partington syndrome Partington syndrome Enable ...

  15. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dystonia 6 dystonia 6 Enable ...

  16. Genetics Home Reference: Friedreich ataxia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Friedreich ataxia Friedreich ataxia Enable ...

  17. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions MEGDEL syndrome MEGDEL syndrome Enable ...

  18. Genetics Home Reference: Leigh syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Leigh syndrome Leigh syndrome Enable ...

  19. Genetics Home Reference: androgenetic alopecia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions androgenetic alopecia androgenetic alopecia Enable ...

  20. Genetics Home Reference: cardiofaciocutaneous syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cardiofaciocutaneous syndrome cardiofaciocutaneous syndrome Enable ...

  1. Genetics Home Reference: Canavan disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Canavan disease Canavan disease Enable ...

  2. Genetics Home Reference: adiposis dolorosa

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions adiposis dolorosa adiposis dolorosa Enable ...

  3. Genetics Home Reference: Crouzonodermoskeletal syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Crouzonodermoskeletal syndrome Crouzonodermoskeletal syndrome Enable ...

  4. Genetics Home Reference: cryptogenic cirrhosis

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions cryptogenic cirrhosis cryptogenic cirrhosis Enable ...

  5. Genetics Home Reference: Cushing disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Cushing disease Cushing disease Enable ...

  6. Genetics Home Reference: Sandhoff disease

    Science.gov (United States)

    ... links) Health Topic: Degenerative Nerve Diseases Health Topic: Tay-Sachs Disease Genetic and Rare Diseases Information Center (1 ... UK) National Organization for Rare Disorders (NORD) National Tay-Sachs and Allied Diseases Association Genetic Testing Registry (1 ...

  7. Genetics Home Reference: Ochoa syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Ochoa syndrome Ochoa syndrome Enable ...

  8. Genetics Home Reference: Maffucci syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Maffucci syndrome Maffucci syndrome Enable ...

  9. Genetics Home Reference: Miller syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Miller syndrome Miller syndrome Enable ...

  10. Genetics Home Reference: Kabuki syndrome

    Science.gov (United States)

    ... Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar ... Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr ... Genet. 2012 Jan 13;90(1):119-24. doi: 10.1016/j.ajhg.2011.11.021. Epub ...

  11. Genetics Home Reference: nemaline myopathy

    Science.gov (United States)

    ... NORD) University of Kansas Medical Center Resource List: Muscular Dystrophy/Atrophy GeneReviews (1 link) Nemaline Myopathy Genetic Testing Registry (11 links) Nemaline myopathy Nemaline myopathy ...

  12. Genetics Home Reference: Salih myopathy

    Science.gov (United States)

    ... myopathy with fatal cardiomyopathy Salih CMD Salih congenital muscular dystrophy Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus ( ...

  13. Genetics Home Reference: xeroderma pigmentosum

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions xeroderma pigmentosum xeroderma pigmentosum Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Xeroderma pigmentosum , which is commonly known as XP, is an ...

  14. Genetics Home Reference: Rotor syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Rotor syndrome Rotor syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rotor syndrome is a relatively mild condition characterized by ...

  15. Genetics Home Reference: Joubert syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Joubert syndrome Joubert syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Joubert syndrome is a disorder that affects many parts ...

  16. Genetics Home Reference: cystic fibrosis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions cystic fibrosis cystic fibrosis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Cystic fibrosis is an inherited disease characterized by the buildup ...

  17. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Turner syndrome Turner syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Turner syndrome is a chromosomal condition that affects development in ...

  18. Genetics Home Reference: polycythemia vera

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions polycythemia vera polycythemia vera Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Polycythemia vera is a condition characterized by an increased number ...

  19. Genetics Home Reference: atopic dermatitis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions atopic dermatitis atopic dermatitis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Atopic dermatitis (also known as atopic eczema) is a disorder ...

  20. Genetics Home Reference: multiminicore disease

    Science.gov (United States)

    ... links) Malignant Hyperthermia Association of the United States Muscular Dystrophy UK: Congenital Myopathies Resource list from the University of Kansas Medical Center GeneReviews (1 link) Multiminicore Disease Genetic Testing Registry (3 links) Minicore myopathy with external ...

  1. Genetics Home Reference: proopiomelanocortin deficiency

    Science.gov (United States)

    ... links) Encyclopedia: ACTH Health Topic: Obesity Health Topic: Obesity in Children Additional NIH Resources (3 links) National Heart Lung ... Support and Advocacy Resources (4 links) Genetics of Obesity Study Healthy Children.org National Adrenal Diseases Foundation Obesity Action Coalition ...

  2. Genetics Home Reference: Rett syndrome

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions Rett syndrome Rett syndrome Enable Javascript to view the expand/collapse ... autism-dementia-ataxia-loss of purposeful hand use syndrome Rett disorder Rett's disorder Rett's syndrome RTS RTT Related ...

  3. Genetics Home Reference: Fryns syndrome

    Science.gov (United States)

    ... childhood. Many of these children have had severe developmental delay and intellectual disability. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  4. Genetics Home Reference: Fanconi anemia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Fanconi anemia Fanconi anemia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Fanconi anemia is a condition that affects many parts of ...

  5. Genetics Home Reference: Roberts syndrome

    Science.gov (United States)

    ... mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17( ... Zou H. Two human orthologues of Eco1/Ctf7 acetyltransferases are both required for proper sister-chromatid cohesion. ...

  6. Genetics Home Reference: myasthenia gravis

    Science.gov (United States)

    ... K. Recent advances in genetic predisposition of myasthenia gravis. Biomed Res Int. 2013;2013:404053. doi: 10.1155/2013/404053. Epub ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  7. Genetics Home Reference: Sotos syndrome

    Science.gov (United States)

    ... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... Genetic Testing Registry (1 link) Sotos' syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  8. Genetics Home Reference: retroperitoneal fibrosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions retroperitoneal fibrosis retroperitoneal fibrosis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Retroperitoneal fibrosis is a disorder in which inflammation and extensive ...

  9. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  10. Genetics Home Reference: FG syndrome

    Science.gov (United States)

    ... the clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009 Nov;11(11):769-75. Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. FG syndrome: ...

  11. Genetics Home Reference: Hashimoto thyroiditis

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Hashimoto thyroiditis is a condition that affects the function ...

  12. Genetics Home Reference: Perry syndrome

    Science.gov (United States)

    ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ... ZK, Yamada T, Benarroch EE. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol. 2008 Feb; ...

  13. Genetics Home Reference: cyclic neutropenia

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions cyclic neutropenia cyclic neutropenia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Cyclic neutropenia is a disorder that causes frequent infections and ...

  14. Genetics Home Reference: rheumatoid arthritis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions rheumatoid arthritis rheumatoid arthritis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, ...

  15. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions psoriatic arthritis psoriatic arthritis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Psoriatic arthritis is a condition involving joint inflammation (arthritis) that ...

  16. Genetics Home Reference: breast cancer

    Science.gov (United States)

    ... Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry. Related Information What information about a genetic ... an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in ...

  17. Genetics Home Reference: lactose intolerance

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions lactose intolerance lactose intolerance Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Lactose intolerance is an impaired ability to digest lactose, a ...

  18. Genetics Home Reference: Arts syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  19. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, ... gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to ...

  20. Genetics Home Reference: Carney complex

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions Carney complex Carney complex Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Carney complex is a disorder characterized by an increased risk ...

  1. Genetics Home Reference: alpha thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cooley's Anemia Foundation: Fact sheet about alpha thalassemia Disease InfoSearch: Alpha-Thalassemia Genomics Education Programme (UK) Information Center for Sickle Cell and ...

  2. Genetics Home Reference: beta thalassemia

    Science.gov (United States)

    ... for Disease Control and Prevention Centre for Genetics Education (Australia) Cold Spring Harbor Laboratory: Your Genes Your Health Disease InfoSearch: Beta Thalassemia Genomics Education Programme (UK) MalaCards: dominant beta-thalassemia Merck Manual ...

  3. Genetics Home Reference: Alzheimer disease

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions Alzheimer disease Alzheimer disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Alzheimer disease is a degenerative disease of the brain ...

  4. Genetics Home Reference: Angelman syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ). The life expectancy of people with this condition ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  5. Genetics Home Reference: Caffey disease

    Science.gov (United States)

    ... bones can lead to curvature of the spine ( scoliosis ) or limit expansion of the chest, resulting in ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  6. Genetics Home Reference: cleidocranial dysplasia

    Science.gov (United States)

    ... knees; and an abnormal curvature of the spine ( scoliosis ). Characteristic facial features may include a wide, short ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  7. Genetics Home Reference: campomelic dysplasia

    Science.gov (United States)

    ... may develop an abnormal curvature of the spine ( scoliosis ) and other spine abnormalities that compress the spinal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  8. Genetics Home Reference: Hennekam syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ), and inward- and upward-turning feet ( clubfeet ). The ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  9. Genetics Home Reference: Aicardi syndrome

    Science.gov (United States)

    ... leading to progressive abnormal curvature of the spine ( scoliosis ). They often have gastrointestinal problems such as constipation ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  10. Genetics Home Reference: cap myopathy

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). The name cap myopathy comes from characteristic abnormal ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  11. Genetics Home Reference: centronuclear myopathy

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ). Rarely, individuals with centronuclear myopathy have a weakened ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  12. Genetics Home Reference: Andermann syndrome

    Science.gov (United States)

    ... individuals also develop abnormal curvature of the spine ( scoliosis ), which may require surgery. Andermann syndrome also results ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  13. Genetics Home Reference: familial dysautonomia

    Science.gov (United States)

    ... pain, poor balance, abnormal curvature of the spine ( scoliosis ), poor bone quality and increased risk of bone ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  14. Genetics Home Reference: Netherton syndrome

    Science.gov (United States)

    ... NS Related Information How are genetic conditions and genes named? ... Weibel L, Deraison C, Hovnanian A. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder ...

  15. Genetics Home Reference: Majeed syndrome

    Science.gov (United States)

    ... the skin, most often a condition known as Sweet syndrome. The symptoms of Sweet syndrome include fever and the development of painful bumps ... NORD): Osteomyelitis National Organization for Rare Disorders (NORD): Sweet Syndrome GeneReviews (1 link) Majeed Syndrome Genetic Testing Registry ( ...

  16. Genetics Home Reference: clopidogrel resistance

    Science.gov (United States)

    ... genetic polymorphisms in CYP2C9 and CYP2C19 on the pharmacokinetics of clinically used drugs. Drug Metab Pharmacokinet. 2013; ... races treated with clopidogrel: A systematic review and meta-analysis. J Huazhong Univ Sci Technolog Med Sci. 2015 ...

  17. Genetics Home Reference: retinitis pigmentosa

    Science.gov (United States)

    ... by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome ; Refsum disease ; and neuropathy, ... for retinitis pigmentosa lead to a gradual loss of rods and cones in the retina. The ...

  18. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  19. Genetics Home Reference: multiple myeloma

    Science.gov (United States)

    ... This Condition Kahler-Bozzolo disease Kahler disease Kahler's disease medullary plasmacytoma myelomatosis plasma cell dyscrasia plasma cell myelomas Related Information How are genetic conditions and genes named? Additional Information & ... and Rare Diseases Information Center (1 link) Multiple myeloma Additional NIH ...

  20. Genetics Home Reference: tubular aggregate myopathy

    Science.gov (United States)

    ... M, Laporte J. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum ... personal health condition should consult with a qualified healthcare professional . About Genetics Home Reference Site Map Contact ...

  1. Genetics Home Reference: giant axonal neuropathy

    Science.gov (United States)

    ... in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve. 2012 Aug;46(2):246-56. ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  2. Genetics Home Reference: Coats plus syndrome

    Science.gov (United States)

    ... Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  3. Genetics Home Reference: acute promyelocytic leukemia

    Science.gov (United States)

    ... Z. Acute promyelocytic leukaemia: novel insights into the mechanisms of cure. Nat Rev Cancer. 2010 Nov;10( ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  4. Genetics Home Reference: familial cold autoinflammatory syndrome

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    ... protein to inhibit inflammation. Impairment of the body's mechanisms for controlling inflammation results in the episodes of ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  5. Genetics Home Reference: fibrodysplasia ossificans progressiva

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    ... of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  6. Genetics Home Reference: cerebral folate transport deficiency

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    ... do not begin until late infancy because other mechanisms can compensate for this loss. For example, another ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  7. Genetics Home Reference: cerebral cavernous malformation

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    ... Awad IA. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance. Neurosurgery. 2004 Jul;55(1): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  8. A genetically anchored physical map of the cacao genome

    Science.gov (United States)

    Mars Incorporated and the United States Department of Agriculture have undertaken the sequencing of the genome of Theobroma cacao, which produces cocoa beans, the key ingredient in chocolate. Genetic information, such as whole genome sequence is necessary to better understand and improve cacao. In m...

  9. [Dactylogyrids (Monogenea: Dactylogyridea) with an unusual number of anchors, their origin and phylogenetic significance. Reference data].

    Science.gov (United States)

    Gerasev, P I

    2002-01-01

    It is considered that in Anacanthorinae, Markewitschiana and Pseudacolpenteron pavlovskii (Dactylogyridae s. s.) the anchors are absent originally. In the other dactylogyrids (s. l.) without anchors (Pseudacolpenteron ignotus; Acolpenteron; Anonchohaptor-Icelanchohaptor; Kritskyia-Telethecium-Pavanelliela) these structures are lost. In related genera Rhinoxenus and Nanotrema the dorsal pair of anchors is transformed into the "spikes"; in Heteronchocleidinae there is one anchor; in Trinigyrus and Schilbetrematoides are two anchors; and in Urogyrus three anchors are reduced. But in Rhinonaster, Cacatyocotyle, Callceostomella, Neocalseostoma elongatum and Pseudodactylogyridae the presence of one pair of ventral "peduncular" or "haptoral" anchors appear to be the original state. For Anacanthorinae and Dactylogyridae s. s. the presence of 18-16 hooks, original lacking of anchors, appearance of one pair of them, evolutionary development and subsequent reduction of these structures are characteristic. In the dactylogyrids (s. l.) having two pairs of anchors and 14 hooks, one pair of the anchors is present originally, then usually the second dorsal pair grows up, and finally, the reduction of a part of anchors or all the anchors is possible. In the 16-hooked dactylogyrids (s. l.) having two pairs of anchors (Tetraonchinea, Amphibdellainea, Neodactylodiscinea) the original lacking or reduction of the anchors is not reported. The author considers, that it is unwarranted to unite all dactylogyrids (s. l.) without anchors into the superorder Ananchorea Malmberg, 1990 or to postulate the original presence of the two pairs of ventral anchors in this group. It is also impossible to unit all dactylogyrids (s. l.) having 0-4 anchors and 18-14 hooks into Dactylogyridae sensu Boeger et Kritsky, 1993. PMID:12070963

  10. Genetics Home Reference: isolated Duane retraction syndrome

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    ... as a dominant trait map to the DURS2 genetic locus. Invest Ophthalmol Vis Sci. 2007 Jan;48(1): ... of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet. ... Reference Site Map Contact Us Selection Criteria ...

  11. Genetics Home Reference: GLUT1 deficiency syndrome

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    ... genetic conditions treated or managed? What is genetic testing? How can I find a genetics professional in my area? Other Names for This Condition De Vivo disease encephalopathy due to GLUT1 deficiency G1D glucose ...

  12. Genetics Home Reference: Klippel-Trenaunay syndrome

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    ... on the sides of the upper legs and calves. Veins deep in the limbs can also be ... prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency Klippel-Trenaunay syndrome is estimated ...

  13. Genetics Home Reference: Shprintzen-Goldberg syndrome

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    ... those of people with a genetic condition called Marfan syndrome . For example, they may have long, slender ... has signs and symptoms similar to those of Marfan syndrome and another genetic condition called Loeys-Dietz ...

  14. Genetics Home Reference: myoclonus-dystonia

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions myoclonus-dystonia myoclonus-dystonia Enable ...

  15. Genetics Home Reference: progressive familial heart block

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions progressive familial heart block progressive ...

  16. Genetics Home Reference: sepiapterin reductase deficiency

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions sepiapterin reductase deficiency sepiapterin reductase ...

  17. Genetics Home Reference: dopamine transporter deficiency syndrome

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dopamine transporter deficiency syndrome dopamine ...

  18. Genetics Home Reference: tyrosine hydroxylase deficiency

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions TH deficiency tyrosine hydroxylase deficiency ...

  19. Genetics Home Reference: GM1 gangliosidosis

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions GM1 gangliosidosis GM1 gangliosidosis Enable ...

  20. Genetics Home Reference: dopa-responsive dystonia

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions dopa-responsive dystonia dopa-responsive ...

  1. Genetics Home Reference: Buschke-Ollendorff syndrome

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Buschke-Ollendorff syndrome Buschke-Ollendorff ...

  2. Genetics Home Reference: C3 glomerulopathy

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions C3 glomerulopathy C3 glomerulopathy Enable ...

  3. Genetics Home Reference: hereditary cerebral amyloid angiopathy

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    ... prognosis of a genetic condition? Genetic and Rare Diseases Information Center Frequency The prevalence of hereditary cerebral amyloid angiopathy is unknown. The Dutch type is the most common, with over 200 ...

  4. Genetics Home Reference: Stargardt macular degeneration

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    ... Genetics Home Health Conditions Stargardt macular degeneration Stargardt macular degeneration Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Stargardt macular degeneration is a genetic eye disorder that causes progressive ...

  5. Genetics Home Reference: recurrent hydatidiform mole

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    ... the embryo either receives genetic information only from sperm cells because the egg has no DNA-containing ... embryo receives too much genetic information because two sperm cells fertilized one egg. Learn more about the ...

  6. Genetics Home Reference: Langer-Giedion syndrome

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Langer-Giedion syndrome Langer-Giedion ...

  7. Genetics Home Reference: Langer mesomelic dysplasia

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Langer mesomelic dysplasia Langer mesomelic ...

  8. Genetics Home Reference: Melnick-Needles syndrome

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    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Melnick-Needles syndrome Melnick-Needles ...

  9. Genetics Home Reference: fragile X syndrome

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    ... College of Medical Genetics Practice Guideline Boston Children's Hospital Centre for Genetics Education (Australia) Disease InfoSearch: Fragile X Syndrome Emory University School of Medicine: Fragile X Premutation--a Cause ...

  10. Genetics Home Reference: Adams-Oliver syndrome

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    ... Hum Genet. 2014 Mar;22(3):374-8. doi: 10.1038/ejhg.2013.159. Epub 2013 Jul ... Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005. Citation ... Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub ...

  11. Genetics Home Reference: multiple endocrine neoplasia

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    ... Tumor Encyclopedia: Pheochromocytoma Encyclopedia: Pituitary Tumor Health Topic: Endocrine Diseases Health Topic: Parathyroid Disorders Health Topic: Pheochromocytoma Health Topic: Thyroid Cancer Genetic ...

  12. Genetics Home Reference: adenosine monophosphate deaminase deficiency

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    ... links) CLIMB: Children Living with Inherited Metabolic Diseases Muscular Dystrophy Association: Myoadenylate Deaminase Deficiency Genetic Testing Registry (1 link) Muscle AMP deaminase deficiency ...

  13. Genetics Home Reference: pulmonary alveolar microlithiasis

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    ... Genetics Home Health Conditions pulmonary alveolar microlithiasis pulmonary alveolar microlithiasis Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description ...

  14. Genetics Home Reference: distal myopathy 2

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    ... Muscular Dystrophy Health Topic: Muscle Disorders Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Distal ... MPD2) Patient Support and Advocacy Resources (2 links) Muscular Dystrophy ... Genetic Testing Registry (1 link) Myopathy, distal, 2 ClinicalTrials. ...

  15. Genetics Home Reference: Walker-Warburg syndrome

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    ... Brain Malformations Health Topic: Eye Diseases Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Walker- ... Intellectual and Developmental Disabilities GeneReviews (1 link) Congenital Muscular Dystrophy ... Genetic Testing Registry (1 link) Walker-Warburg syndrome ClinicalTrials. ...

  16. Genetics Home Reference: Laing distal myopathy

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    ... Additional Information & Resources MedlinePlus (1 link) Health Topic: Muscular Dystrophy Genetic and Rare Diseases Information Center (1 link) Laing ... list from the University of Kansas Medical Center: Muscular Dystrophy/Atrophy GeneReviews (1 ... Genetic Testing Registry (1 link) Myopathy, distal, 1 ClinicalTrials. ...

  17. Genetics Home Reference: pseudohypoaldosteronism type 2

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    ... high levels of chloride (hyperchloremia) and acid (metabolic acidosis) in their blood (together, referred to as hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, and metabolic acidosis can ...

  18. Genetics Home Reference: mucopolysaccharidosis type VI

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    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type VI mucopolysaccharidosis type VI Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux- ...

  19. Genetics Home Reference: mucopolysaccharidosis type II

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    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type II mucopolysaccharidosis type II Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type II (MPS II), also known as Hunter ...

  20. Genetics Home Reference: mucopolysaccharidosis type IV

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    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type IV mucopolysaccharidosis type IV Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type IV (MPS IV), also known as Morquio ...

  1. Genetics Home Reference: mucopolysaccharidosis type III

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    ... Understand Genetics Home Health Conditions mucopolysaccharidosis type III mucopolysaccharidosis type III Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo ...

  2. Genetics Home Reference: adolescent idiopathic scoliosis

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    ... of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having ... 3 percent of children in the U.S. Related Information What information about a genetic condition can statistics ...

  3. Genetics Home Reference: Saethre-Chotzen syndrome

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    ... Condition acrocephalosyndactyly III Acrocephalosyndactyly, type III Acrocephaly, Skull Asymmetry, and Mild Syndactyly ACS III ACS3 Chotzen syndrome dysostosis craniofacialis with hypertelorism SCS Related Information How are genetic conditions and genes named? Additional ...

  4. Genetics Home Reference: mitochondrial trifunctional protein deficiency

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    ... high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial ... management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ...

  5. Genetics Home Reference: primary carnitine deficiency

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    ... are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine ... management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ...

  6. Genetics Home Reference: 5-alpha reductase deficiency

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    ... About half of these individuals adopt a male gender role in adolescence or early adulthood. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  7. Genetics Home Reference: hereditary fructose intolerance

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    ... Genetics Home Health Conditions hereditary fructose intolerance hereditary fructose intolerance Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Hereditary fructose intolerance is a condition that affects a person's ...

  8. Genetics Home Reference: mitochondrial complex III deficiency

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    ... chemical called lactic acid in the body (lactic acidosis). Some affected individuals also have buildup of molecules ... Additional Information & Resources MedlinePlus (4 links) Encyclopedia: Lactic Acidosis Encyclopedia: Metabolic Acidosis Health Topic: Genetic Brain Disorders ...

  9. Genetics Home Reference: primary spontaneous pneumothorax

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    ... increase the risk of primary spontaneous pneumothorax . One theory is that the altered folliculin protein may trigger ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management These resources address the diagnosis or management of ...

  10. Genetics Home Reference: phosphoglycerate mutase deficiency

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    ... Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center: Metabolic Conditions Genetic Testing Registry (1 link) Glycogen storage disease type ...

  11. Genetics Home Reference: phosphoglycerate kinase deficiency

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    ... Children Living with Inherited Metabolic Diseases (CLIMB) (UK) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource list from the University of Kansas Medical Center: Metabolic Conditions Genetic Testing Registry (2 links) Deficiency of phosphoglycerate kinase ...

  12. Genetics Home Reference: hypokalemic periodic paralysis

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    ... paralysis Patient Support and Advocacy Resources (2 links) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center GeneReviews (1 link) Hypokalemic Periodic Paralysis Genetic Testing Registry (3 links) Hypokalemic periodic paralysis Hypokalemic ...

  13. Genetics Home Reference: juvenile primary lateral sclerosis

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    ... Resources (3 links) Motor Neurone Disease Association (UK) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) GeneReviews (1 link) ALS2-Related Disorders Genetic Testing Registry (1 link) Juvenile primary lateral sclerosis ...

  14. Genetics Home Reference: potassium-aggravated myotonia

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    ... myotonia Patient Support and Advocacy Resources (2 links) Muscular Dystrophy Association Resource list from the University of Kansas Medical Center Genetic Testing Registry (1 link) Potassium aggravated myotonia ClinicalTrials. ...

  15. Genetics Home Reference: Muckle-Wells syndrome

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    ... cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol. 2006 Mar;45(3):239-44. Citation on ... JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review. Citation ...

  16. Genetics Home Reference: acral peeling skin syndrome

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    ... epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010 Jun;130(6):1741-6. doi: 10. ... syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012 May-Jun;29(3):258-63. doi: ...

  17. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

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    ... congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. Review. Citation ... ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. Epub ...

  18. Genetics Home Reference: ring chromosome 20 syndrome

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    ... 3 links) Encyclopedia: Chromosome Encyclopedia: Epilepsy Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 20 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  19. Genetics Home Reference: ring chromosome 14 syndrome

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    ... Encyclopedia: Chromosome Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) Ring chromosome 14 Additional NIH Resources (2 links) National Human Genome Research Institute: Chromosome Abnormalities National Institute of ...

  20. Genetics Home Reference: phosphoribosylpyrophosphate synthetase superactivity

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    ... muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  1. Genetics Home Reference: Greig cephalopolysyndactyly syndrome

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    ... may have more serious medical problems including seizures, developmental delay, and intellectual disability. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  2. Genetics Home Reference: congenital dyserythropoietic anemia

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    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  3. Genetics Home Reference: factor V deficiency

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    ... Genetics Home Health Conditions factor V deficiency factor V deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Factor V deficiency is a rare bleeding disorder. The signs ...

  4. Genetics Home Reference: Parkes Weber syndrome

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    ... because of their color are sometimes called "port-wine stains." In people with Parkes Weber syndrome , capillary ... diagnosis or management of Parkes Weber syndrome: Gene Review: Gene Review: RASA1-Related Disorders Genetic Testing Registry: ...

  5. Genetics Home Reference: Wolf-Hirschhorn syndrome

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    ... 4 . This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected ... Gene Review: Wolf-Hirschhorn Syndrome Genetic Testing Registry: 4p partial monosomy syndrome MedlinePlus Encyclopedia: Epilepsy These resources ...

  6. Genetics Home Reference: sick sinus syndrome

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    ... Genetics Home Health Conditions sick sinus syndrome sick sinus syndrome Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Sick sinus syndrome (also known as sinus node dysfunction) is ...

  7. Genetics Home Reference: beta-mannosidosis

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    ... depression, or have behavioral problems such as hyperactivity, impulsivity or aggression. People with beta-mannosidosis may experience ... and management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care ...

  8. Genetics Home Reference: lymphedema-distichiasis syndrome

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    ... Understand Genetics Home Health Conditions lymphedema-distichiasis syndrome lymphedema-distichiasis syndrome Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Lymphedema-distichiasis syndrome is a condition that affects the ...

  9. Genetics Home Reference: Sézary syndrome

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    ... Co-Pay Assistance Program Lymphoma Research Foundation National Organization for Rare Disorders (NORD): Cutaneous T-Cell Lymphomas Genetic Testing Registry (1 link) Sezary syndrome Scientific articles on PubMed (1 link) PubMed Sources for This ...

  10. Genetics Home Reference: Langerhans cell histiocytosis

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    ... Association Histio UK Histiocytosis Association of America National Organization for Rare Disorders Genetic Testing Registry (1 link) Langerhans cell histiocytosis, multifocal Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  11. Genetics Home Reference: caudal regression syndrome

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    ... umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007 Dec ... AK, Dickinson JE, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am ...

  12. Genetics Home Reference: Pitt-Hopkins syndrome

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    ... gastrointestinal problems, an unusually small head ( microcephaly ), nearsightedness ( myopia ), eyes that do not look in the same ... groups? Genetic Changes Mutations in the TCF4 gene cause Pitt-Hopkins syndrome . This gene provides instructions for ...

  13. Genetics Home Reference: progressive supranuclear palsy

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    ... appear to be related to abnormalities in the tau protein. In people with MAPT gene mutations, genetic changes ... affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other ...

  14. Genetics Home Reference: autosomal dominant vitreoretinochoroidopathy

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    ... Diagnosis & Management These resources address the diagnosis or management of autosomal dominant vitreoretinochoroidopathy: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Vitreoretinochoroidopathy dominant These resources ...

  15. Genetics Home Reference: leptin receptor deficiency

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    ... Understand Genetics Home Health Conditions leptin receptor deficiency leptin receptor deficiency Enable Javascript to view the expand/ ... boxes. Print All Open All Close All Description Leptin receptor deficiency is a condition that causes severe ...

  16. Genetics Home Reference: congenital leptin deficiency

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    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  17. Genetics Home Reference: carnitine palmitoyltransferase I deficiency

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    ... Understand Genetics Home Health Conditions CPT I deficiency carnitine palmitoyltransferase I deficiency Enable Javascript to view the ... boxes. Print All Open All Close All Description Carnitine palmitoyltransferase I (CPT I) deficiency is a condition ...

  18. Genetics Home Reference: microvillus inclusion disease

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    ... Genetics Home Health Conditions microvillus inclusion disease microvillus inclusion disease Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Microvillus inclusion disease is a condition characterized by chronic, watery, ...

  19. Genetics Home Reference: methylmalonic acidemia with homocystinuria

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    ... the processing of vitamin B12, also known as cobalamin or Cbl. Processing of the vitamin converts it ... Homocystinuria Gene Review: Gene Review: Disorders of Intracellular Cobalamin Metabolism Genetic Testing Registry: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, ...

  20. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

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    ... Genetics Home Health Conditions ARVC arrhythmogenic right ventricular cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Arrhythmogenic right ventricular cardiomyopathy ( ARVC ) is a form of heart disease that ...

  1. Genetics Home Reference: familial restrictive cardiomyopathy

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    ... Home Health Conditions familial restrictive cardiomyopathy familial restrictive cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Familial restrictive cardiomyopathy is a genetic form of heart disease. For ...

  2. Genetics Home Reference: childhood myocerebrohepatopathy spectrum

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    ... Help Me Understand Genetics Home Health Conditions MCHS childhood myocerebrohepatopathy spectrum Enable Javascript to view the expand/ ... Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: ...

  3. Genetics Home Reference: spinocerebellar ataxia type 2

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    ... Me Understand Genetics Home Health Conditions SCA2 spinocerebellar ataxia type 2 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 2 ( SCA2 ) is a condition characterized by ...

  4. Genetics Home Reference: ataxia-telangiectasia

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    ... Me Understand Genetics Home Health Conditions ataxia-telangiectasia ataxia-telangiectasia Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Ataxia-telangiectasia is a rare inherited disorder that affects ...

  5. Genetics Home Reference: spinocerebellar ataxia type 3

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    ... Me Understand Genetics Home Health Conditions SCA3 spinocerebellar ataxia type 3 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 3 ( SCA3 ) is a condition characterized by ...

  6. Genetics Home Reference: spinocerebellar ataxia type 6

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    ... Me Understand Genetics Home Health Conditions SCA6 spinocerebellar ataxia type 6 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 6 ( SCA6 ) is a condition characterized by ...

  7. Genetics Home Reference: ataxia with oculomotor apraxia

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    ... Genetics Home Health Conditions ataxia with oculomotor apraxia ataxia with oculomotor apraxia Enable Javascript to view the ... boxes. Download PDF Open All Close All Description Ataxia with oculomotor apraxia is a condition characterized by ...

  8. Genetics Home Reference: spinocerebellar ataxia type 1

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    ... Me Understand Genetics Home Health Conditions SCA1 spinocerebellar ataxia type 1 Enable Javascript to view the expand/ ... Download PDF Open All Close All Description Spinocerebellar ataxia type 1 ( SCA1 ) is a condition characterized by ...

  9. Genetics Home Reference: MECP2 duplication syndrome

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    ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ... Page Educational Resources (8 links) Boston Children's Hospital: Respiratory Distress Boston Children's Hospital: Seizures Centers for Disease ...

  10. Genetics Home Reference: combined pituitary hormone deficiency

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    ... Genetics Home Health Conditions combined pituitary hormone deficiency combined pituitary hormone deficiency Enable Javascript to view the ... boxes. Print All Open All Close All Description Combined pituitary hormone deficiency is a condition that causes ...

  11. Genetics Home Reference: Leber congenital amaurosis

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    ... types of cells. Cilia are necessary for the perception of several types of sensory input, including vision. ... of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for ...

  12. Genetics Home Reference: tetra-amelia syndrome

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    ... Genetics Home Health Conditions tetra-amelia syndrome tetra-amelia syndrome Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Tetra-amelia syndrome is a very rare disorder characterized by ...

  13. Genetics Home Reference: Tay-Sachs disease

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    ... Understand Genetics Home Health Conditions Tay-Sachs disease Tay-Sachs disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Tay-Sachs disease is a rare inherited disorder that progressively ...

  14. Genetics Home Reference: tuberous sclerosis complex

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    ... Home Health Conditions tuberous sclerosis complex tuberous sclerosis complex Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Tuberous sclerosis complex is a genetic disorder characterized by the growth ...

  15. Genetics Home Reference: central core disease

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    ... abnormalities such as abnormal curvature of the spine ( scoliosis ), hip dislocation, and joint deformities called contractures that ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  16. Genetics Home Reference: arterial tortuosity syndrome

    Science.gov (United States)

    ... fingers and toes (arachnodactyly); curvature of the spine ( scoliosis ); or a chest that is either sunken (pectus ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  17. Genetics Home Reference: Camurati-Engelmann disease

    Science.gov (United States)

    ... systems can cause abnormal curvature of the spine ( scoliosis ), joint deformities (contractures), knock knees, and flat feet ( ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  18. Genetics Home Reference: Freeman-Sheldon syndrome

    Science.gov (United States)

    ... have a spine that curves to the side ( scoliosis ). People with Freeman-Sheldon syndrome also have an ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  19. Genetics Home Reference: isodicentric chromosome 15 syndrome

    Science.gov (United States)

    ... and a spine that curves to the side ( scoliosis ). Related Information What does it mean if a ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  20. Genetics Home Reference: Andersen-Tawil syndrome

    Science.gov (United States)

    ... stature and an abnormal curvature of the spine ( scoliosis ). Two types of Andersen-Tawil syndrome are distinguished ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  1. Genetics Home Reference: Cantú syndrome

    Science.gov (United States)

    ... lymphedema ), side-to-side curvature of the spine ( scoliosis ), and reduced bone density (osteopenia). Some affected children ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  2. Genetics Home Reference: Klippel-Feil syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) due to malformation of the vertebrae; fusion of ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  3. Genetics Home Reference: inclusion body myopathy 2

    Science.gov (United States)

    ... inclusion body myopathy: the Middle Eastern genetic cluster. Neurology. 2003 May 13;60(9):1519-23. Citation ... vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93. Citation ...

  4. Genetics Home Reference: Townes-Brocks Syndrome

    Science.gov (United States)

    ... Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase ... 2221-7. Epub 2003 Jul 15. Powell CM, Michaelis RC. Townes-Brocks syndrome. J Med Genet. 1999 ...

  5. Pointing and Reference in Sign Language and Spoken Language: Anchoring vs. Identifying

    Science.gov (United States)

    Barberà, Gemma; Zwets, Martine

    2013-01-01

    In both signed and spoken languages, pointing serves to direct an addressee's attention to a particular entity. This entity may be either present or absent in the physical context of the conversation. In this article we focus on pointing directed to nonspeaker/nonaddressee referents in Sign Language of the Netherlands (Nederlandse Gebarentaal,…

  6. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Home Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  7. Genetics Home Reference: juvenile idiopathic arthritis

    Science.gov (United States)

    ... Home Health Conditions juvenile idiopathic arthritis juvenile idiopathic arthritis Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Juvenile idiopathic arthritis refers to a group of conditions involving joint ...

  8. Genetics Home Reference: Bietti crystalline dystrophy

    Science.gov (United States)

    ... Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74( ...

  9. Genetics Home Reference: alternating hemiplegia of childhood

    Science.gov (United States)

    ... Almost all affected individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  10. Genetics Home Reference: beta-ketothiolase deficiency

    Science.gov (United States)

    ... Test Genetic Testing Registry: Deficiency of acetyl-CoA acetyltransferase These resources from MedlinePlus offer information about the ... Testing Registry (1 link) Deficiency of acetyl-CoA acetyltransferase ACT Sheets (1 link) Elevated C5-OH Acylcarnitine ...

  11. Genetics Home Reference: type 1 diabetes

    Science.gov (United States)

    ... JM, Mayer-Davis EJ. Epidemiology of type 1 diabetes. Endocrinol Metab Clin North Am. 2010 Sep;39(3):481-97. doi: 10.1016/j.ecl.2010.05.011. Review. Citation on PubMed or Free article on PubMed ... G. Insights into type 1 diabetes provided by genetic analyses. Curr Opin Endocrinol Diabetes ...

  12. Genetics Home Reference: pyruvate kinase deficiency

    Science.gov (United States)

    ... National (UK) Information Centre for Metabolic Diseases National Organization for Rare Disorders (NORD): Pyruvate Kinase Deficiency Genetic Testing Registry (1 link) Pyruvate kinase deficiency of red cells Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  13. Genetics Home Reference: Paget disease of bone

    Science.gov (United States)

    ... genetic cause of classic Paget disease of bone , accounting for 10 to 50 percent of cases that ... familial ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific articles on PubMed (1 link) PubMed OMIM (4 links) ...

  14. Genetics Home Reference: SOX2 anophthalmia syndrome

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of SOX2 anophthalmia syndrome: GeneReview: SOX2-Related Eye Disorders Genetic Testing Registry: Microphthalmia syndromic 3 MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about ...

  15. Genetics Home Reference: idiopathic inflammatory myopathy

    Science.gov (United States)

    ... 1001/jama.2010.1977. Citation on PubMed or Free article on PubMed Central Shamim EA, Miller FW. Familial autoimmunity and the idiopathic inflammatory myopathies. Curr Rheumatol Rep. 2000 Jun;2(3):201-11. Review. Citation on PubMed Shamim EA, Rider LG, Miller FW. Update on the genetics of ...

  16. Genetics Home Reference: restless legs syndrome

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions restless legs syndrome restless legs syndrome Enable Javascript to view the expand/collapse boxes. ... Other Names for This Condition Ekbom syndrome Ekbom's syndrome restless leg syndrome RLS WED Willis-Ekbom disease Related Information ...

  17. Genetics Home Reference: facioscapulohumeral muscular dystrophy

    Science.gov (United States)

    ... Padberg GW, Lunt PW, van der Maarel SM. Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: ... Reviewed : August 2014 Published : August 30, 2016 The resources on this site should not be used as a ... of Health & Human Services National Institutes of Health National Library of ...

  18. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David;

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  19. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... develop potentially fatal heart failure, which may require heart transplantation. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic ... that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the ...

  20. Genetics Home Reference: asphyxiating thoracic dystrophy

    Science.gov (United States)

    ... pancreas , dental abnormalities, and an eye disease called retinal dystrophy that can lead to vision loss. Related Information ... mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5): ...

  1. Genetics Home Reference: fish-eye disease

    Science.gov (United States)

    ... Genetics Home Health Conditions fish-eye disease fish-eye disease Enable Javascript to view the expand/collapse boxes. ... Cornea and Corneal Disease Educational Resources (4 links) Disease InfoSearch: Fish-Eye Disease MalaCards: fish-eye disease Orphanet: Fish-eye ...

  2. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... the signs and symptoms of CMAMMA , although the mechanisms are unclear. Learn more about the gene associated ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  3. Genetics Home Reference: hereditary leiomyomatosis and renal cell cancer

    Science.gov (United States)

    ... Central Sudarshan S, Pinto PA, Neckers L, Linehan WM. Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer-- ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  4. Genetics Home Reference: head and neck squamous cell carcinoma

    Science.gov (United States)

    ... SB, Rischin D, Dobrovic A, Solomon B. Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  5. Genetics Home Reference: DMD-associated dilated cardiomyopathy

    Science.gov (United States)

    ... on PubMed Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart. 2004 Aug; ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  6. Genetics Home Reference: Allan-Herndon-Dudley syndrome

    Science.gov (United States)

    ... Heuer H, Trajkovic M, Bauer K, Visser TJ. Mechanisms of disease: psychomotor retardation and high T3 levels ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  7. A sequence-based genetic linkage map as a reference for Brassica rapa pseudochromosome assembly

    Directory of Open Access Journals (Sweden)

    Cheng Feng

    2011-05-01

    Full Text Available Abstract Background Brassica rapa is an economically important crop and a model plant for studies concerning polyploidization and the evolution of extreme morphology. The multinational B. rapa Genome Sequencing Project (BrGSP was launched in 2003. In 2008, next generation sequencing technology was used to sequence the B. rapa genome. Several maps concerning B. rapa pseudochromosome assembly have been published but their coverage of the genome is incomplete, anchoring approximately 73.6% of the scaffolds on to chromosomes. Therefore, a new genetic map to aid pseudochromosome assembly is required. Results This study concerns the construction of a reference genetic linkage map for Brassica rapa, forming the backbone for anchoring sequence scaffolds of the B. rapa genome resulting from recent sequencing efforts. One hundred and nineteen doubled haploid (DH lines derived from microspore cultures of an F1 cross between a Chinese cabbage (B. rapa ssp. pekinensis DH line (Z16 and a rapid cycling inbred line (L144 were used to construct the linkage map. PCR-based insertion/deletion (InDel markers were developed by re-sequencing the two parental lines. The map comprises a total of 507 markers including 415 InDels and 92 SSRs. Alignment and orientation using SSR markers in common with existing B. rapa linkage maps allowed ten linkage groups to be identified, designated A01-A10. The total length of the linkage map was 1234.2 cM, with an average distance of 2.43 cM between adjacent marker loci. The lengths of linkage groups ranged from 71.5 cM to 188.5 cM for A08 and A09, respectively. Using the developed linkage map, 152 scaffolds were anchored on to the chromosomes, encompassing more than 82.9% of the B. rapa genome. Taken together with the previously available linkage maps, 183 scaffolds were anchored on to the chromosomes and the total coverage of the genome was 88.9%. Conclusions The development of this linkage map is vital for the integration of genome

  8. Genetic Relatedness of Trichomonas vaginalis Reference and Clinical Isolates

    OpenAIRE

    Cornelius, Denise C.; Mena, Leandro; Lushbaugh, William B.; Meade, John C.

    2010-01-01

    We have determined the metronidazole susceptibility status of 20 Trichomonas vaginalis isolates from American Type Culture Collection (ATCC) and assessed the level of genetic relatedness in these isolates using 32 additional T. vaginalis clinical isolates for comparison. These ATCC isolates are commonly used as reference strains in T. vaginalis research and this information provides a rational basis for selection of reference strains for use in comparative studies of T. vaginalis phenotypic a...

  9. Genetic relatedness of Trichomonas vaginalis reference and clinical isolates.

    Science.gov (United States)

    Cornelius, Denise C; Mena, Leandro; Lushbaugh, William B; Meade, John C

    2010-12-01

    We have determined the metronidazole susceptibility status of 20 Trichomonas vaginalis isolates from American Type Culture Collection (ATCC) and assessed the level of genetic relatedness in these isolates using 32 additional T. vaginalis clinical isolates for comparison. These ATCC isolates are commonly used as reference strains in T. vaginalis research and this information provides a rational basis for selection of reference strains for use in comparative studies of T. vaginalis phenotypic and clinical characteristics. PMID:21118935

  10. Longevity GWAS Using the Drosophila Genetic Reference Panel

    OpenAIRE

    Ivanov, D. K.; Escott-Price, V.; Ziehm, M.; Magwire, M. M.; Mackay, T F; Partridge, L.; Thornton, J. M.

    2015-01-01

    We used 197 Drosophila melanogaster Genetic Reference Panel (DGRP) lines to perform a genome-wide association analysis for virgin female lifespan, using ~2M common single nucleotide polymorphisms (SNPs). We found considerable genetic variation in lifespan in the DGRP, with a broad-sense heritability of 0.413. There was little power to detect signals at a genome-wide level in single-SNP and gene-based analyses. Polygenic score analysis revealed that a small proportion of the variation in lifes...

  11. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  12. Anchor reinforcements

    Energy Technology Data Exchange (ETDEWEB)

    Levkovich, P.Ye.; Sal' nikov, V.K.; Savich, N.S.

    1980-11-30

    An anchor reinforcement includes an anchor shaft, an elastic jig with a separator wall having compartments placed parallely along it and filled with reinforcement material and a device for destroying the jig wall separator. To quickly put the anchor in place and increase the reliability of the reinforcement by mixing the reinforcement material components better, the device for destroying the jig separator wall was made in the shape of a shovel, fastened to the anchor shaft and the separator wall has a longitudinal hollow for holding the anchor shaft/shovel.

  13. Longevity GWAS Using the Drosophila Genetic Reference Panel.

    Science.gov (United States)

    Ivanov, Dobril K; Escott-Price, Valentina; Ziehm, Matthias; Magwire, Michael M; Mackay, Trudy F C; Partridge, Linda; Thornton, Janet M

    2015-12-01

    We used 197 Drosophila melanogaster Genetic Reference Panel (DGRP) lines to perform a genome-wide association analysis for virgin female lifespan, using ~2M common single nucleotide polymorphisms (SNPs). We found considerable genetic variation in lifespan in the DGRP, with a broad-sense heritability of 0.413. There was little power to detect signals at a genome-wide level in single-SNP and gene-based analyses. Polygenic score analysis revealed that a small proportion of the variation in lifespan (~4.7%) was explicable in terms of additive effects of common SNPs (≥2% minor allele frequency). However, several of the top associated genes are involved in the processes previously shown to impact ageing (eg, carbohydrate-related metabolism, regulation of cell death, proteolysis). Other top-ranked genes are of unknown function and provide promising candidates for experimental examination. Genes in the target of rapamycin pathway (TOR; Chrb, slif, mipp2, dredd, RpS9, dm) contributed to the significant enrichment of this pathway among the top-ranked 100 genes (p = 4.79×10(-06)). Gene Ontology analysis suggested that genes involved in carbohydrate metabolism are important for lifespan; including the InterPro term DUF227, which has been previously associated with lifespan determination. This analysis suggests that our understanding of the genetic basis of natural variation in lifespan from induced mutations is incomplete. PMID:25922346

  14. Physical mapping in large genomes: accelerating anchoring of BAC contigs to genetic maps through in silico analysis.

    Science.gov (United States)

    Paux, Etienne; Legeai, Fabrice; Guilhot, Nicolas; Adam-Blondon, Anne-Françoise; Alaux, Michaël; Salse, Jérôme; Sourdille, Pierre; Leroy, Philippe; Feuillet, Catherine

    2008-02-01

    Anchored physical maps represent essential frameworks for map-based cloning, comparative genomics studies, and genome sequencing projects. High throughput anchoring can be achieved by polymerase chain reaction (PCR) screening of bacterial artificial chromosome (BAC) library pools with molecular markers. However, for large genomes such as wheat, the development of high dimension pools and the number of reactions that need to be performed can be extremely large making the screening laborious and costly. To improve the cost efficiency of anchoring in such large genomes, we have developed a new software named Elephant (electronic physical map anchoring tool) that combines BAC contig information generated by FingerPrinted Contig with results of BAC library pools screening to identify BAC addresses with a minimal amount of PCR reactions. Elephant was evaluated during the construction of a physical map of chromosome 3B of hexaploid wheat. Results show that a one dimensional pool screening can be sufficient to anchor a BAC contig while reducing the number of PCR by 384-fold thereby demonstrating that Elephant is an efficient and cost-effective tool to support physical mapping in large genomes. PMID:18038165

  15. Genetics Home Reference: CHST3-related skeletal dysplasia

    Science.gov (United States)

    ... K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. 2008 Sep ... should consult with a qualified healthcare professional . About Genetics Home ...

  16. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Müllerian aplasia and hyperandrogenism Müllerian ...

  17. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions X-linked dystonia-parkinsonism X- ...

  18. Genetics Home Reference: hypermanganesemia with dystonia, polycythemia, and cirrhosis

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions HMDPC hypermanganesemia with dystonia, polycythemia, ...

  19. Genetics Home Reference: early-onset primary dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions early-onset primary dystonia early- ...

  20. Genetics Home Reference: Charcot-Marie-Tooth disease

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Charcot-Marie-Tooth disease Charcot- ...

  1. Genetics Home Reference: task-specific focal dystonia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions task-specific focal dystonia task- ...

  2. Genetics Home Reference: Mayer-Rokitansky-Küster-Hauser syndrome

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Mayer-Rokitansky-Küster-Hauser syndrome ...

  3. Genetics Home Reference: rapid-onset dystonia parkinsonism

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions rapid-onset dystonia parkinsonism rapid- ...

  4. Genetics Home Reference: carbamoyl phosphate synthetase I deficiency

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions carbamoyl phosphate synthetase I deficiency ...

  5. Genetics Home Reference: X-linked chondrodysplasia punctata 1

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions X-linked chondrodysplasia punctata 1 ...

  6. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions Schimke immuno-osseous dysplasia Schimke ...

  7. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    Science.gov (United States)

    ... 9 links) American Heart Association Centre for Genetics Education (Australia) Cleveland Clinic Disease InfoSearch: Jervell Lange-Nielsen syndrome ... and Advocacy Resources (5 links) Centre for Genetics Education (Australia) National Association of the Deaf National Organization for ...

  8. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    Science.gov (United States)

    ... Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum ... Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub ... Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub ...

  9. Genetics Home Reference: Koolen-de Vries syndrome

    Science.gov (United States)

    ... Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub ... Genet A. 2013 Jan;161A(1):21-6. doi: 10.1002/ajmg.a.35652. Epub 2012 Nov ... Genet. 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. Citation ...

  10. Human genetic variation database, a reference database of genetic variations in the Japanese population

    Science.gov (United States)

    Higasa, Koichiro; Miyake, Noriko; Yoshimura, Jun; Okamura, Kohji; Niihori, Tetsuya; Saitsu, Hirotomo; Doi, Koichiro; Shimizu, Masakazu; Nakabayashi, Kazuhiko; Aoki, Yoko; Tsurusaki, Yoshinori; Morishita, Shinichi; Kawaguchi, Takahisa; Migita, Osuke; Nakayama, Keiko; Nakashima, Mitsuko; Mitsui, Jun; Narahara, Maiko; Hayashi, Keiko; Funayama, Ryo; Yamaguchi, Daisuke; Ishiura, Hiroyuki; Ko, Wen-Ya; Hata, Kenichiro; Nagashima, Takeshi; Yamada, Ryo; Matsubara, Yoichi; Umezawa, Akihiro; Tsuji, Shoji; Matsumoto, Naomichi; Matsuda, Fumihiko

    2016-01-01

    Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic genetic variation from 1208 Japanese individuals through a collaborative effort, and aggregated the data into a prevailing catalog. In total, we identified 156 622 previously unreported variants. The allele frequencies for the majority (88.8%) were lower than 0.5% in allele frequency and predicted to be functionally deleterious. In addition, we have constructed a Japanese-specific major allele reference genome by which the number of unique mapping of the short reads in our data has increased 0.045% on average. Our results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants. All the collected data were centralized to a newly developed database to serve as useful resources for exploring pathogenic variations. Public access to the database is available at http://www.genome.med.kyoto-u.ac.jp/SnpDB/. PMID:26911352

  11. Genetics Home Reference: Ellis-van Creveld syndrome

    Science.gov (United States)

    ... syndrome: Genetic Testing Registry: Chondroectodermal dysplasia MedlinePlus Encyclopedia: Congenital Heart Disease MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome MedlinePlus Encyclopedia: ...

  12. Genetics Home Reference: 1q21.1 microduplication

    Science.gov (United States)

    ... 4 links) Encyclopedia: Tetralogy of Fallot Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: Speech and Communication Disorders Genetic and Rare Diseases Information ...

  13. Genetics Home Reference: 16p11.2 deletion syndrome

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (3 links) Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Health Topic: Speech and Communication Disorders Genetic and Rare Diseases Information ...

  14. Genetics Home Reference: von Hippel-Lindau syndrome

    Science.gov (United States)

    ... Anderson Cancer Center MedlinePlus Encyclopedia: Pheochromocytoma MedlinePlus Encyclopedia: Renal Cell Carcinoma National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These ...

  15. Genetics Home Reference: familial idiopathic basal ganglia calcification

    Science.gov (United States)

    ... Wang QK, Liu JY. Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic ... DH. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ... DH. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr ...

  16. Genetics Home Reference: 17-beta hydroxysteroid dehydrogenase 3 deficiency

    Science.gov (United States)

    ... About half of these individuals adopt a male gender role in adolescence or early adulthood. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  17. Genetics Home Reference: dopamine beta-hydroxylase deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions dopamine beta-hydroxylase deficiency dopamine beta-hydroxylase deficiency Enable Javascript to view the ... boxes. Print All Open All Close All Description Dopamine beta (β)-hydroxylase deficiency is a condition that ...

  18. Genetics Home Reference: 7q11.23 duplication syndrome

    Science.gov (United States)

    ... movements of one side of the body that mirror intentional movements of the other side. Behavioral problems ... management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ...

  19. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ... growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet. 2004 Apr 15;13(8): ...

  20. Genetics Home Reference: hereditary myopathy with early respiratory failure

    Science.gov (United States)

    ... list from the University of Kansas Medical Center: Muscular Dystrophy / Atrophy GeneReviews (1 link) Hereditary Myopathy with Early Respiratory Failure (HMERF) Genetic Testing Registry (1 link) Hereditary myopathy with early ...

  1. Genetics Home Reference: neonatal onset multisystem inflammatory disease

    Science.gov (United States)

    ... JR. Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol. 2008 Mar;144(3):392-402. Review. Citation ... F. Autoinflammatory syndromes with a dermatological perspective. J Dermatol. 2007 Sep;34(9):601-18. Review. Citation ...

  2. Genetics Home Reference: autosomal dominant partial epilepsy with auditory features

    Science.gov (United States)

    ... Genetics Home Health Conditions ADPEAF autosomal dominant partial epilepsy with auditory features Enable Javascript to view the ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  3. Genetics Home Reference: myoclonic epilepsy with ragged-red fibers

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions MERRF myoclonic epilepsy with ragged-red fibers Enable Javascript to view ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  4. Genetics Home Reference: myoclonic epilepsy myopathy sensory ataxia

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions MEMSA myoclonic epilepsy myopathy sensory ataxia Enable Javascript to view the ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  5. Genetics Home Reference: glycogen storage disease type 0

    Science.gov (United States)

    ... go unnoticed for years, or they can include developmental delay and growth failure. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  6. Genetics Home Reference: 15q13.3 microdeletion

    Science.gov (United States)

    ... behavioral problems, including a short attention span, aggression, impulsive behavior, and hyperactivity. Some people with a 15q13.3 ... and management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care ...

  7. Genetics Home Reference: lattice corneal dystrophy type II

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of lattice corneal dystrophy type II: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Meretoja syndrome Merck Manual ...

  8. Genetics Home Reference: lattice corneal dystrophy type I

    Science.gov (United States)

    ... Diagnosis & Management These resources address the diagnosis or management of lattice corneal dystrophy type I: American Foundation for the Blind: Living with Vision Loss Genetic Testing Registry: Lattice corneal dystrophy Type ...

  9. Genetics Home Reference: X-linked creatine deficiency

    Science.gov (United States)

    ... affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and ... between 1 and 2 percent of males with intellectual disability. Related Information What information about a genetic condition ...

  10. Genetics Home Reference: Duchenne and Becker muscular dystrophy

    Science.gov (United States)

    ... Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Muscular dystrophies are a group of genetic conditions characterized by ...

  11. Genetics Home Reference: neuropathy, ataxia, and retinitis pigmentosa

    Science.gov (United States)

    ... Me Understand Genetics Home Health Conditions NARP neuropathy, ataxia, and retinitis pigmentosa Enable Javascript to view the ... Download PDF Open All Close All Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that ...

  12. Genetics Home Reference: infantile-onset spinocerebellar ataxia

    Science.gov (United States)

    ... Genetics Home Health Conditions IOSCA infantile-onset spinocerebellar ataxia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Infantile-onset spinocerebellar ataxia ( IOSCA ) is a progressive disorder that affects the ...

  13. Genetics Home Reference: autosomal recessive cerebellar ataxia type 1

    Science.gov (United States)

    ... Genetics Home Health Conditions ARCA1 autosomal recessive cerebellar ataxia type 1 Enable Javascript to view the expand/ ... Open All Close All Description Autosomal recessive cerebellar ataxia type 1 ( ARCA1 ) is a condition characterized by ...

  14. Genetics Home Reference: congenital insensitivity to pain with anhidrosis

    Science.gov (United States)

    ... G, Pagliardini S, Pierotti MA, Greco A. Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic ... Verpoorten N, De Jonghe P, Timmerman V. Disease mechanisms in hereditary sensory and autonomic neuropathies. Neurobiol Dis. ...

  15. Genetics Home Reference: pulmonary veno-occlusive disease

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions pulmonary veno-occlusive disease pulmonary veno-occlusive disease Enable Javascript to view the ... Disease Control and Prevention: Pulmonary Hypertension Fact Sheet Disease InfoSearch: Pulmonary venoocclusive ... pulmonary venoocclusive disease Orphanet: Pulmonary ...

  16. Genetics Home Reference: Marinesco-Sjögren syndrome

    Science.gov (United States)

    ... in my area? Other Names for This Condition Garland-Moorhouse syndrome hereditary oligophrenic cerebello-lental degeneration Marinesco-Garland syndrome MSS Related Information How are genetic conditions ...

  17. Genetics Home Reference: collagen VI-related myopathy

    Science.gov (United States)

    ... Genetics Home Health Conditions collagen VI-related myopathy collagen VI-related myopathy Enable Javascript to view the ... boxes. Print All Open All Close All Description Collagen VI-related myopathy is a group of disorders ...

  18. Genetics Home Reference: renal tubular acidosis with deafness

    Science.gov (United States)

    ... Prevention: Hearing Loss in Children Centre for Genetics Education (Australia): Deafness and Hearing Loss Gallaudet University: Laurent Clerc National Deaf Education Center KidsHealth: What's Hearing Loss? MalaCards: renal tubular ...

  19. Genetics Home Reference: familial thoracic aortic aneurysm and dissection

    Science.gov (United States)

    ... inguinal hernia ), an abnormal curvature of the spine ( scoliosis ), or a purplish skin discoloration (livedo reticularis) caused ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  20. Genetics Home Reference: Bannayan-Riley-Ruvalcaba syndrome

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ), and a sunken chest (pectus excavatum). The features ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  1. Genetics Home Reference: congenital fiber-type disproportion

    Science.gov (United States)

    ... or a spine that curves to the side ( scoliosis ). Approximately 30 percent of people with this disorder ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  2. Genetics Home Reference: autosomal dominant hyper-IgE syndrome

    Science.gov (United States)

    ... movement ( hyperextensibility ), an abnormal curvature of the spine ( scoliosis ), reduced bone density (osteopenia), and a tendency for ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  3. Genetics Home Reference: vitamin D-dependent rickets

    Science.gov (United States)

    ... genetic causes: CYP27B1 gene mutations cause VDDR1, and VDR gene mutations cause VDDR2. Both genes are involved ... binds) to a protein called vitamin D receptor (VDR), which is produced from the VDR gene. The ...

  4. Genetics Home Reference: carnitine-acylcarnitine translocase deficiency

    Science.gov (United States)

    ... deficiency Related Information How are genetic conditions and genes named? ... Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M. A novel SLC25A20 splicing mutation in patients of different ethnic origin with ...

  5. Genetics Home Reference: Duane-radial ray syndrome

    Science.gov (United States)

    ... in particular ethnic groups? Genetic Changes Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part ... WR, Okumura S, Okihiro MM, Engle EC. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL ...

  6. Genetics Home Reference: X-linked intellectual disability, Siderius type

    Science.gov (United States)

    ... Cleft Lip / Cleft Palate Bottle Feeding Cleveland Clinic: Cleft Lip & Palate Surgery Genetic Testing Registry: Siderius X-linked mental ... PJ, Schofield CJ. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl ...

  7. Genetics Home Reference: medullary cystic kidney disease type 1

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions medullary cystic kidney disease type 1 medullary cystic kidney disease type 1 Enable Javascript to ... and How They Work Educational Resources (4 links) Disease InfoSearch: Medullary cystic kidney disease 1 Merck Manual Consumer Version: ...

  8. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... of GM2-gangliosidosis, AB variant: Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type ...

  9. Genetics Home Reference: 22q11.2 deletion syndrome

    Science.gov (United States)

    ... Seattle, Washington Children's Hospital of Philadelphia Cincinnati Children's Hospital Medical Center Disease InfoSearch: 22q11.2 Deletion Syndrome Emory University School of Medicine Genetics Education Materials for School Success (GEMSS) MalaCards: chromosome 22q11. ...

  10. Genetically modified organisms in food and feed : annual report 2010 of the Dutch National Reference Laboratory

    OpenAIRE

    Scholtens-Toma, I.M.J.; Molenaar, B.; Zaaijer, S.; Voorhuijzen, M.M.; Prins, T.W.; Kok, E.J.

    2011-01-01

    This is the annual report of the Dutch National Reference Laboratory (NRL) for Genetically Modified Food and Feed (RIKILT - Institue of Food Safety). The report gives an overview of the NRL activities carried out in 2010. In 2010 RIKILT participated in one ring trial for inter laboratory validation of an event-specific GMO detection method organised by the European Union Reference Laboratory for Genetically Modified Food and Feed (EURL-GMFF). Both Rikilt and the Routine Field Laboratory of th...

  11. Using the Drosophila Melanogaster Genetics Reference Panel to Identify Toxicity Pathways for Toluene

    Science.gov (United States)

    Mechanistic information is needed to link effects of chemicals at molecular targets in high­ throughput screening assays to adverse outcomes in whole organisms. This study was designed to use the Drosophila Genetic Reference Panel (DGRP), a set of genetically well...

  12. SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean.

    Science.gov (United States)

    Song, Qijian; Jia, Gaofeng; Hyten, David L; Jenkins, Jerry; Hwang, Eun-Young; Schroeder, Steven G; Osorno, Juan M; Schmutz, Jeremy; Jackson, Scott A; McClean, Phillip E; Cregan, Perry B

    2015-11-01

    A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing technology. From these, two BeadChips each with >5000 SNPs were designed. The BARCBean6K_1 BeadChip was selected for the purpose of optimizing polymorphism among market classes and, when possible, SNPs were targeted to sequence scaffolds in the Phaseolus vulgaris 14× genome assembly with sequence lengths >10 kb. The BARCBean6K_2 BeadChip was designed with the objective of anchoring additional scaffolds and to facilitate orientation of large scaffolds. Analysis of 267 F2 plants from a cross of varieties Stampede × Red Hawk with the two BeadChips resulted in linkage maps with a total of 7040 markers including 7015 SNPs. With the linkage map, a total of 432.3 Mb of sequence from 2766 scaffolds was anchored to create the Phaseolus vulgaris v1.0 assembly, which accounted for approximately 89% of the 487 Mb of available sequence scaffolds of the Phaseolus vulgaris v0.9 assembly. A core set of 6000 SNPs (BARCBean6K_3 BeadChip) with high genotyping quality and polymorphism was selected based on the genotyping of 365 dry bean and 134 snap bean accessions with the BARCBean6K_1 and BARCBean6K_2 BeadChips. The BARCBean6K_3 BeadChip is a useful tool for genetics and genomics research and it is widely used by breeders and geneticists in the United States and abroad. PMID:26318155

  13. Recollections of J.B.S. Haldane, with special reference to Human Genetics in India

    Directory of Open Access Journals (Sweden)

    Krishna R Dronamraju

    2012-01-01

    Full Text Available This paper is a brief account of the scientific work of J.B.S. Haldane (1892-1964, with special reference to early research in Human Genetics. Brief descriptions of Haldane′s background, his important contributions to the foundations of human genetics, his move to India from Great Britain and the research carried out in Human Genetics in India under his direction are outlined. Population genetic research on Y-linkage in man, inbreeding, color blindness and other aspects are described.

  14. An assessment of Canadian systems for triaging referred out genetic testing.

    Science.gov (United States)

    Christian, S; Blumenschein, P; Lilley, M

    2015-07-01

    The field of genetics is evolving rapidly, significantly expanding the number of clinically useful genetic tests. The cost of genetic testing has created an increasing burden on public health care budgets. In Canada, funding bodies have responded by developing independent systems. Key individuals in each province and territory participated in a semi-structured interview regarding the process in their jurisdiction to approve funding for referred out genetic testing and their decision-making criteria. Two themes were identified: the importance of clinical utility in decision-making and the utilization of genetic specialists as gate keepers. Allocation of a specific budget appears to be associated with some fiscal responsibility. Collaboration between provincial and territorial bodies may lead to a more unified approach across Canada. PMID:25065508

  15. A reference genetic map of C. clementina hort. ex Tan.; citrus evolution inferences from comparative mapping

    OpenAIRE

    Ollitrault Patrick; Terol Javier; Chen Chunxian; Federici Claire T; Lotfy Samia; Hippolyte Isabelle; Ollitrault Frédérique; Bérard Aurélie; Chauveau Aurélie; Cuenca Jose; Costantino Gilles; Kacar Yildiz; Mu Lisa; Garcia-Lor Andres; Froelicher Yann

    2012-01-01

    Abstract Background Most modern citrus cultivars have an interspecific origin. As a foundational step towards deciphering the interspecific genome structures, a reference whole genome sequence was produced by the International Citrus Genome Consortium from a haploid derived from Clementine mandarin. The availability of a saturated genetic map of Clementine was identified as an essential prerequisite to assist the whole genome sequence assembl...

  16. Erythropoietin in the General Population : Reference Ranges and Clinical, Biochemical and Genetic Correlates

    NARCIS (Netherlands)

    Grote Beverborg, Niels; Verweij, Niek; Klip, IJsbrand T.; van der Wal, Haye H.; Voors, Adriaan A.; van Veldhuisen, Dirk J.; Gansevoort, Ron T.; Bakker, Stephan J. L.; van der Harst, Pim; van der Meer, Peter

    2015-01-01

    Background Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population. M

  17. Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help

    Science.gov (United States)

    Calvo, Sherri; Greenberg, Kathleen; Forman Neall, Lisa; Morrison, Stephanie

    2016-01-01

    Precision medicine focuses on understanding individual variability in disease prevention, care, and treatment. The Precision Medicine Initiative, launched by President Obama in early 2015, aims to bring this approach to all areas of health care. However, few consumer-friendly resources exist for the public to learn about precision medicine and the conditions that could be affected by this approach to care. Genetics Home Reference, a website from the US National Library of Medicine, seeks to support precision medicine education by providing the public with summaries of genetic conditions and their associated genes, as well as information about issues related to precision medicine such as disease risk and pharmacogenomics. With the advance of precision medicine, consumer-focused resources like Genetics Home Reference can be foundational in providing context for public understanding of the increasing amount of data that will become available. PMID:27122232

  18. FRP-to-concrete joint assemblies anchored with multiple FRP anchors: experimental investigation

    OpenAIRE

    Zhang, H.; Smith, ST

    2010-01-01

    Higher strains can be developed in fibre-reinforced polymer (FRP) composites which are bonded to the surfaces of concrete members if the FRP is anchored. Anchors made from FRP (also known as FRP spike anchors but herein referred to as FRP anchors) are a promising type of anchorage as they can be applied to a variety of different shaped structural elements and they have been shown to be effective in en-hancing the strain capacity of externally bonded FRP. Limited research, however, has been co...

  19. Erythropoietin in the General Population: Reference Ranges and Clinical, Biochemical and Genetic Correlates

    OpenAIRE

    Niels Grote Beverborg; Niek Verweij; Klip, IJsbrand T.; Haye H van der Wal; Voors, Adriaan A.; van Veldhuisen, Dirk J.; Gansevoort, Ron T.; Bakker, Stephan J. L.; Pim van der Harst; Peter van der Meer

    2015-01-01

    Background Although erythropoietin has been used for decades in the treatment of anemia, data regarding endogenous levels in the general population are scarce. Therefore, we determined erythropoietin reference ranges and its clinical, biochemical and genetic associations in the general population. Methods We used data from 6,777 subjects enrolled in the Prevention of REnal and Vascular ENd-stage Disease (PREVEND) study. Fasting venous blood samples were obtained in the morning from all partic...

  20. Genetically modified organisms in food and feed : annual report of the Dutch National Reference Laboratory

    OpenAIRE

    Scholtens-Toma, I.M.J.; Molenaar, B.; Zaaijer, S.; Voorhuijzen, M.M.; Prins, T.W.; Kok, E. J.

    2012-01-01

    This is the annual report of the Dutch National Reference Laboratory (NRL) for Genetically Modified Food and Feed (RIKILT - Institute of Food Safety). The report gives an overview of the NRL activities carried out in 2011. In 2011 both RIKILT and the Routine Field Laboratory of the Netherlands Food and Consumer Product Safety Authority (NVWA) participated in several proficiency tests with good results. Also RIKILT participated in two EUR/NRL meetings and the Working Group on Method Verificati...

  1. Identification and assembly of genomes and genetic elements in complex metagenomic samples without using reference genomes

    DEFF Research Database (Denmark)

    Nielsen, Henrik Bjørn; Almeida, Mathieu; Juncker, Agnieszka;

    2014-01-01

    Most current approaches for analyzing metagenomic data rely on comparisons to reference genomes, but the microbial diversity of many environments extends far beyond what is covered by reference databases. De novo segregation of complex metagenomic data into specific biological entities......, such as particular bacterial strains or viruses, remains a largely unsolved problem. Here we present a method, based on binning co-abundant genes across a series of metagenomic samples, that enables comprehensive discovery of new microbial organisms, viruses and co-inherited genetic entities and aids assembly...... of microbial genomes without the need for reference sequences. We demonstrate the method on data from 396 human gut microbiome samples and identify 7,381 co-abundance gene groups (CAGs), including 741 metagenomic species (MGS). We use these to assemble 238 high-quality microbial genomes and identify...

  2. A reference genetic map of C. clementina hort. ex Tan.; citrus evolution inferences from comparative mapping

    Directory of Open Access Journals (Sweden)

    Ollitrault Patrick

    2012-11-01

    Full Text Available Abstract Background Most modern citrus cultivars have an interspecific origin. As a foundational step towards deciphering the interspecific genome structures, a reference whole genome sequence was produced by the International Citrus Genome Consortium from a haploid derived from Clementine mandarin. The availability of a saturated genetic map of Clementine was identified as an essential prerequisite to assist the whole genome sequence assembly. Clementine is believed to be a ‘Mediterranean’ mandarin × sweet orange hybrid, and sweet orange likely arose from interspecific hybridizations between mandarin and pummelo gene pools. The primary goals of the present study were to establish a Clementine reference map using codominant markers, and to perform comparative mapping of pummelo, sweet orange, and Clementine. Results Five parental genetic maps were established from three segregating populations, which were genotyped with Single Nucleotide Polymorphism (SNP, Simple Sequence Repeats (SSR and Insertion-Deletion (Indel markers. An initial medium density reference map (961 markers for 1084.1 cM of the Clementine was established by combining male and female Clementine segregation data. This Clementine map was compared with two pummelo maps and a sweet orange map. The linear order of markers was highly conserved in the different species. However, significant differences in map size were observed, which suggests a variation in the recombination rates. Skewed segregations were much higher in the male than female Clementine mapping data. The mapping data confirmed that Clementine arose from hybridization between ‘Mediterranean’ mandarin and sweet orange. The results identified nine recombination break points for the sweet orange gamete that contributed to the Clementine genome. Conclusions A reference genetic map of citrus, used to facilitate the chromosome assembly of the first citrus reference genome sequence, was established. The high

  3. Development of a certified reference material for genetically modified potato with altered starch composition.

    Science.gov (United States)

    Broothaerts, Wim; Corbisier, Philippe; Emons, Hendrik; Emteborg, Håkan; Linsinger, Thomas P J; Trapmann, Stefanie

    2007-06-13

    The presence of genetically modified organisms (GMOs) in food and feed products is subject to regulation in the European Union (EU) and elsewhere. As part of the EU authorization procedure for GMOs intended for food and feed use, reference materials must be produced for the quality control of measurements to quantify the GMOs. Certified reference materials (CRMs) are available for a range of herbicide- and insect-resistant genetically modified crops such as corn, soybean, and cotton. Here the development of the first CRM for a GMO that differs from its non-GMO counterpart in a major compositional constituent, that is, starch, is described. It is shown that the modification of the starch composition of potato (Solanum tuberosum L.) tubers, together with other characteristics of the delivered materials, have important consequences for the certification strategy. Moreover, the processing and characterization of the EH92-527-1 potato material required both new and modified procedures, different from those used routinely for CRMs produced from genetically modified seeds. PMID:17508757

  4. Hypersensitivity to Suture Anchors

    Directory of Open Access Journals (Sweden)

    Masafumi Goto

    2013-01-01

    Full Text Available Hypersensitivity to suture anchor is extremely rare. Herein, we present a case in which hypersensitivity to suture anchor was strongly suspected. The right rotator cuff of a 50-year-old woman was repaired with a metal suture anchor. Three weeks after the surgery, she developed erythema around her face, trunk, and hands, accompanied by itching. Infection was unlikely because no abnormalities were detected by blood testing or by medical examination. Suspicious of a metallic allergy, a dermatologist performed a patch testing 6 months after the first surgery. The patient had negative reactions to tests for titanium, aluminum, and vanadium, which were the principal components of the suture anchor. The anchor was removed 7 months after the first surgery, and the erythema disappeared immediately. When allergic symptoms occur and persist after the use of a metal anchor, removal should be considered as a treatment option even if the patch test result is negative.

  5. Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

    DEFF Research Database (Denmark)

    Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan;

    2010-01-01

    validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....

  6. A statistical assessment of differences and equivalences between genetically modified and reference plant varieties

    Directory of Open Access Journals (Sweden)

    Amzal Billy

    2011-02-01

    Full Text Available Abstract Background Safety assessment of genetically modified organisms is currently often performed by comparative evaluation. However, natural variation of plant characteristics between commercial varieties is usually not considered explicitly in the statistical computations underlying the assessment. Results Statistical methods are described for the assessment of the difference between a genetically modified (GM plant variety and a conventional non-GM counterpart, and for the assessment of the equivalence between the GM variety and a group of reference plant varieties which have a history of safe use. It is proposed to present the results of both difference and equivalence testing for all relevant plant characteristics simultaneously in one or a few graphs, as an aid for further interpretation in safety assessment. A procedure is suggested to derive equivalence limits from the observed results for the reference plant varieties using a specific implementation of the linear mixed model. Three different equivalence tests are defined to classify any result in one of four equivalence classes. The performance of the proposed methods is investigated by a simulation study, and the methods are illustrated on compositional data from a field study on maize grain. Conclusions A clear distinction of practical relevance is shown between difference and equivalence testing. The proposed tests are shown to have appropriate performance characteristics by simulation, and the proposed simultaneous graphical representation of results was found to be helpful for the interpretation of results from a practical field trial data set.

  7. Susceptibility to anchoring effects

    Directory of Open Access Journals (Sweden)

    Todd McElroy

    2007-02-01

    Full Text Available Previous research on anchoring has shown this heuristic to be a very robust psychological phenomenon ubiquitous across many domains of human judgment and decision-making. Despite the prevalence of anchoring effects, researchers have only recently begun to investigate the underlying factors responsible for how and in what ways a person is susceptible to them. This paper examines how one such factor, the Big-Five personality trait of openness-to-experience, influences the effect of previously presented anchors on participants' judgments. Our findings indicate that participants high in openness-to-experience were significantly more influenced by anchoring cues relative to participants low in this trait. These findings were consistent across two different types of anchoring tasks providing convergent evidence for our hypothesis.

  8. Anchoring visions in organizations

    DEFF Research Database (Denmark)

    Simonsen, Jesper

    1999-01-01

    This paper introduces the term 'anchoring' within systems development: Visions, developed through early systems design within an organization, need to be deeply rooted in the organization. A vision's rationale needs to be understood by those who decide if the vision should be implemented as well as...... anchoring is considered to be a main activity, is outlined. The task of anchoring visions is described, and techniques and activities are suggested with respect to those actors that have to act on the visions and the recommendations from a design proposal. The paper concludes that obtaining appropriate...

  9. Long-term response to genomic selection: effects of estimation method and reference population structure for different genetic architectures

    Directory of Open Access Journals (Sweden)

    Bastiaansen John WM

    2012-01-01

    Full Text Available Abstract Background Genomic selection has become an important tool in the genetic improvement of animals and plants. The objective of this study was to investigate the impacts of breeding value estimation method, reference population structure, and trait genetic architecture, on long-term response to genomic selection without updating marker effects. Methods Three methods were used to estimate genomic breeding values: a BLUP method with relationships estimated from genome-wide markers (GBLUP, a Bayesian method, and a partial least squares regression method (PLSR. A shallow (individuals from one generation or deep reference population (individuals from five generations was used with each method. The effects of the different selection approaches were compared under four different genetic architectures for the trait under selection. Selection was based on one of the three genomic breeding values, on pedigree BLUP breeding values, or performed at random. Selection continued for ten generations. Results Differences in long-term selection response were small. For a genetic architecture with a very small number of three to four quantitative trait loci (QTL, the Bayesian method achieved a response that was 0.05 to 0.1 genetic standard deviation higher than other methods in generation 10. For genetic architectures with approximately 30 to 300 QTL, PLSR (shallow reference or GBLUP (deep reference had an average advantage of 0.2 genetic standard deviation over the Bayesian method in generation 10. GBLUP resulted in 0.6% and 0.9% less inbreeding than PLSR and BM and on average a one third smaller reduction of genetic variance. Responses in early generations were greater with the shallow reference population while long-term response was not affected by reference population structure. Conclusions The ranking of estimation methods was different with than without selection. Under selection, applying GBLUP led to lower inbreeding and a smaller reduction of

  10. Susceptibility to anchoring effects

    OpenAIRE

    Todd McElroy; Keith Dowd

    2007-01-01

    Previous research on anchoring has shown this heuristic to be a very robust psychological phenomenon ubiquitous across many domains of human judgment and decision-making. Despite the prevalence of anchoring effects, researchers have only recently begun to investigate the underlying factors responsible for how and in what ways a person is susceptible to them. This paper examines how one such factor, the Big-Five personality trait of openness-to-experience, influences the effect of previously p...

  11. Reference benchmarks relating to great groups of genetic soil classification of China with soil taxonomy

    Institute of Scientific and Technical Information of China (English)

    SHI Xuezheng; YU Dongsheng; SUN Weixia; WANG Hongjie; ZHAO Qiguo; GONG Zitong

    2004-01-01

    Soil classification forms the basis for the exchange and extension of research findings in soil science and for the modernization of management of soil resources. This paper systematically reviews the compatibility of the genetic soil classification of China (GSCC) and soil taxonomy (ST).This includes a study of the evolution and consummation of the GSCC and assessment of the databases and methods of the study. Using the "Soil Species of China (six volumes)"and some provincial soil species as the basic material, the authors gathered information from 2540 soil species. Based on the key described in ST, the 2540 soil species were taxonomically classified into corresponding soil orders, suborders,great groups and subgroups and then matched with corresponding map units in the 1: 1000000 digital soil map of China. Using the high-level classification units of the two soil classification systems, and the attributes of each soil species,the sizes of distribution areas were mapped. The soil distribution results were analyzed and compared statistically. The reference compatibility between the great groups used in GSCC system and the soil orders of the ST is discussed. It is believed that 20 great groups display maximum referencibility >95% and 15 great groups depict maximum referencibility in the range of 70%-95%, which can be cited as reference benchmarks. The remaining 25 great groups are less compatible (with maximum referencibility <70%) and need further study, or require referencing at lower classification levels or at a regional level to help to improve the accuracy of the reference.

  12. A sequence-based genetic linkage map as a reference for Brassica rapa pseudochromosome assembly

    OpenAIRE

    Cheng Feng; Wang Qian; Liao Yongcui; Deng Jie; Wang Hui(Wendy); Liu Bo; Sun Silong; Wang Yan; Wang Xiaowu; Wu Jian

    2011-01-01

    Abstract Background Brassica rapa is an economically important crop and a model plant for studies concerning polyploidization and the evolution of extreme morphology. The multinational B. rapa Genome Sequencing Project (BrGSP) was launched in 2003. In 2008, next generation sequencing technology was used to sequence the B. rapa genome. Several maps concerning B. rapa pseudochromosome assembly have been published but their coverage of the genome is incomplete, anchoring approximately 73.6% of t...

  13. Full-Reference Image Quality Assessment with Linear Combination of Genetically Selected Quality Measures.

    Science.gov (United States)

    Oszust, Mariusz

    2016-01-01

    Information carried by an image can be distorted due to different image processing steps introduced by different electronic means of storage and communication. Therefore, development of algorithms which can automatically assess a quality of the image in a way that is consistent with human evaluation is important. In this paper, an approach to image quality assessment (IQA) is proposed in which the quality of a given image is evaluated jointly by several IQA approaches. At first, in order to obtain such joint models, an optimisation problem of IQA measures aggregation is defined, where a weighted sum of their outputs, i.e., objective scores, is used as the aggregation operator. Then, the weight of each measure is considered as a decision variable in a problem of minimisation of root mean square error between obtained objective scores and subjective scores. Subjective scores reflect ground-truth and involve evaluation of images by human observers. The optimisation problem is solved using a genetic algorithm, which also selects suitable measures used in aggregation. Obtained multimeasures are evaluated on four largest widely used image benchmarks and compared against state-of-the-art full-reference IQA approaches. Results of comparison reveal that the proposed approach outperforms other competing measures. PMID:27341493

  14. A Novel Reference Plasmid for the Qualitative Detection of Genetically Modified Rice in Food and Feed

    Directory of Open Access Journals (Sweden)

    Liang Li

    2015-01-01

    Full Text Available Rice is one of the most important food crops in the world. Genetically modified (GM technology has been used in rice to confer herbicide tolerance and pathogen or insect resistance. China invests heavily in research on GM rice. By the end of 2014, at least 250 transgenic rice lines had been developed in China. To monitor the presence of GM rice in food and feed, we collected information on foreign elements from 250 transgenic rice lines and found 5 elements, including the Agrobacterium tumefaciens nopaline synthase terminator (T-NOS, the cauliflower mosaic virus 35S promoter (CaMV35S, the ubiquitin gene (Ubi, the bar gene, and the hygromycin phosphotransferase gene (Hpt, that are commonly present in GM rice. Therefore, we constructed a novel plasmid (pBJGMM001 that contains fragments of these elements and two endogenous reference genes (the sucrose phosphate synthase gene, SPS, and the phosphoenolpyruvate carboxylase gene, PEPC. pBJGMM001 can serve as a standard for detecting 96% of GM rice lines in China. The primers, amplicons, reaction mixture, and PCR program were developed based on Chinese National Standards. The protocol was validated and determined to be suitable for practical use in monitoring and identifying GM rice.

  15. Full-Reference Image Quality Assessment with Linear Combination of Genetically Selected Quality Measures

    Science.gov (United States)

    2016-01-01

    Information carried by an image can be distorted due to different image processing steps introduced by different electronic means of storage and communication. Therefore, development of algorithms which can automatically assess a quality of the image in a way that is consistent with human evaluation is important. In this paper, an approach to image quality assessment (IQA) is proposed in which the quality of a given image is evaluated jointly by several IQA approaches. At first, in order to obtain such joint models, an optimisation problem of IQA measures aggregation is defined, where a weighted sum of their outputs, i.e., objective scores, is used as the aggregation operator. Then, the weight of each measure is considered as a decision variable in a problem of minimisation of root mean square error between obtained objective scores and subjective scores. Subjective scores reflect ground-truth and involve evaluation of images by human observers. The optimisation problem is solved using a genetic algorithm, which also selects suitable measures used in aggregation. Obtained multimeasures are evaluated on four largest widely used image benchmarks and compared against state-of-the-art full-reference IQA approaches. Results of comparison reveal that the proposed approach outperforms other competing measures. PMID:27341493

  16. Genetics Home Reference: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions T-cell immunodeficiency, congenital alopecia, ...

  17. Genetics Home Reference: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

    Science.gov (United States)

    Skip to main content Your Guide to Understanding Genetic Conditions Enable Javascript for addthis links to activate. ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions CADASIL cerebral autosomal dominant arteriopathy ...

  18. Illusion of Relevance: Anchoring in Economic and Financial Knowledge

    Directory of Open Access Journals (Sweden)

    Andrey Kudryavtse

    2010-12-01

    Full Text Available Contemporary research documents various psychological aspects of economic thought and decision-making. The main goal of our study is to analyze the role of the anchoring (bias(Tversky and Kahneman, 1974 in perceiving economic and financial information, and, in particular, the effect of perceived relevance of the anchors on the degree of the bias. Anchoring bias refers to people's tendency to form their estimates for different categories, starting from a particular available, and often irrelevant, value and insufficiently adjusting their final judgments from this starting value. We carry out an experiment involving a group of MBA students, asking them to recall a number of recent economic and financial indicators (stock and bond market index returns, rates of inflation, currency exchange rates, etc., with half of the participants receiving actual information about some unrelated indicators (anchors, before answering the questions. We document that significant anchoring bias is exhibited, on average, for each of our experimental questions and by vast majority of the participants, the degree of the bias being higher for women and older participants. Furthermore, in the context of the effect of anchors' perceived relevance, we find that people exhibit significantly stronger bias in cases when the anchor is presented as a similar category. Our findings indicate that if, at least at the first glance, an anchor bears some similarity to the target question, then the resulting answer may be more assimilated towards the anchor

  19. Anchoring the Deficit of the Anchor Deficit: Dyslexia or Attention?

    Science.gov (United States)

    Willburger, Edith; Landerl, Karin

    2010-01-01

    In the anchoring deficit hypothesis of dyslexia ("Trends Cogn. Sci.", 2007; 11: 458-465), it is proposed that perceptual problems arise from the lack of forming a perceptual anchor for repeatedly presented stimuli. A study designed to explicitly test the specificity of the anchoring deficit for dyslexia is presented. Four groups, representing all…

  20. Establishment of Quantitative Analysis Method for Genetically Modified Maize Using a Reference Plasmid and Novel Primers

    Science.gov (United States)

    Moon, Gi-Seong; Shin, Weon-Sun

    2012-01-01

    For the quantitative analysis of genetically modified (GM) maize in processed foods, primer sets and probes based on the 35S promoter (p35S), nopaline synthase terminator (tNOS), p35S-hsp70 intron, and zSSIIb gene encoding starch synthase II for intrinsic control were designed. Polymerase chain reaction (PCR) products (80~101 bp) were specifically amplified and the primer sets targeting the smaller regions (80 or 81 bp) were more sensitive than those targeting the larger regions (94 or 101 bp). Particularly, the primer set 35F1-R1 for p35S targeting 81 bp of sequence was even more sensitive than that targeting 101 bp of sequence by a 3-log scale. The target DNA fragments were also specifically amplified from all GM labeled food samples except for one item we tested when 35F1-R1 primer set was applied. A reference plasmid pGMmaize (3 kb) including the smaller PCR products for p35S, tNOS, p35S-hsp70 intron, and the zSSIIb gene was constructed for real-time PCR (RT-PCR). The linearity of standard curves was confirmed by using diluents ranging from 2×101~105 copies of pGMmaize and the R2 values ranged from 0.999~1.000. In the RT-PCR, the detection limit using the novel primer/probe sets was 5 pg of genomic DNA from MON810 line indicating that the primer sets targeting the smaller regions (80 or 81 bp) could be used for highly sensitive detection of foreign DNA fragments from GM maize in processed foods. PMID:24471096

  1. A high-throughput strategy for screening of bacterial artificial chromosome libraries and anchoring of clones on a genetic map constructed with single nucleotide polymorphisms

    OpenAIRE

    Deal Karin R; Ma Yaqin; Xu Kenong; Luo Ming-Cheng; Nicolet Charles M; Dvorak Jan

    2009-01-01

    Abstract Background Current techniques of screening bacterial artificial chromosome (BAC) libraries for molecular markers during the construction of physical maps are slow, laborious and often assign multiple BAC contigs to a single locus on a genetic map. These limitations are the principal impediment in the construction of physical maps of large eukaryotic genomes. It is hypothesized that this impediment can be overcome by screening multidimensional pools of BAC clones using the highly para...

  2. A high-throughput strategy for screening of bacterial artificial chromosome libraries and anchoring of clones on a genetic map constructed with single nucleotide polymorphisms

    OpenAIRE

    Luo, Ming-Cheng; Xu, Kenong; Ma, Yaqin; Karin R Deal; Nicolet, Charles M.; Dvorak, Jan

    2009-01-01

    Background Current techniques of screening bacterial artificial chromosome (BAC) libraries for molecular markers during the construction of physical maps are slow, laborious and often assign multiple BAC contigs to a single locus on a genetic map. These limitations are the principal impediment in the construction of physical maps of large eukaryotic genomes. It is hypothesized that this impediment can be overcome by screening multidimensional pools of BAC clones using the highly parallel Illu...

  3. Genetics Home Reference: 6q24-related transient neonatal diabetes mellitus

    Science.gov (United States)

    ... H, Marquis E, Bellanné-Chantelot C, Robert JJ. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic ... critical minimal genetic region for the imprinting disorder 6q24 transient neonatal ...

  4. Genetics Home Reference: hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

    Science.gov (United States)

    ... Eye Diseases Health Topic: Muscle Cramps Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) ... Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011 Feb;24(1):63- ...

  5. Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb

    Directory of Open Access Journals (Sweden)

    Rajeevan Haseena

    2012-09-01

    Full Text Available Abstract Background Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited. Methods The back end DBMS (Database Management System for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts. Results We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu, that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu. In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color. Conclusion The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in

  6. Genetics Home Reference: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

    Science.gov (United States)

    ... at risk for serious heart problems, breathing difficulties, coma, and sudden death. Problems related to LCHAD deficiency ... management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ...

  7. Genetics Home Reference: autosomal recessive spastic ataxia of Charlevoix-Saguenay

    Science.gov (United States)

    ... Genetics Home Health Conditions ARSACS autosomal recessive spastic ataxia of Charlevoix-Saguenay Enable Javascript to view the ... Open All Close All Description Autosomal recessive spastic ataxia of Charlevoix-Saguenay , more commonly known as ARSACS , ...

  8. Genetics Home Reference: STING-associated vasculopathy with onset in infancy

    Science.gov (United States)

    ... result from abnormally increased inflammation are known as autoinflammatory diseases. The signs and symptoms of SAVI begin ... management of SAVI: Beth Israel Deaconess Medical Center: Autoinflammatory Disease Center Eurofever Project Genetic Testing Registry: Sting- ...

  9. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... abnormal side-to-side curvature of the spine ( scoliosis ) or thinning of the bones ( osteoporosis ). Adrenal hypoplasia ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  10. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral.

    OpenAIRE

    Riel, E. van; Dulmen, S. van; Ausems, M.G.E.M.

    2012-01-01

    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a 7-month period, we recorded demographic characteristics like gender, personal and family history of cancer, ethnicity and eligibility for genetic testing for 406 consecutive counselees using a speci...

  11. Fundamental Principles of Human Heredity with Reference to Basic Methods Investigating Transmission of Genetic Traits

    Czech Academy of Sciences Publication Activity Database

    Marván, Richard

    Praha: Karolinum, 2007 - (Bláha, P.; Sussane, C.; Rebato, E.), s. 75-95 ISBN 978-80-246-1338-3 R&D Projects: GA MŠk(CZ) 1M06014 Institutional research plan: CEZ:AV0Z10300504 Keywords : history * principles * transmission of traits * karyotype * mutagenesis * polymorphism * pedigree analysis * twin and adoption studies * behavioural genetics Subject RIV: EB - Genetics ; Molecular Biology

  12. Radioprotection of the environment: on the context of biodiversity and evolutionary theory. A reference organism has no genetic properties

    International Nuclear Information System (INIS)

    The recent efforts to define a basis for radioprotection of the environment include some concepts and ideas related to various endpoints which need a clarification. This paper focuses on the biodiversity concept and the context of individuals of a species as well as that of the species as a gene pool. A major problem with the ambition to radioprotect biodiversity is the concept 'reference organism' which has no genetic properties and therefore is in contradiction with a real biological species. Biodiversity and the species (gene pool) concept are, just as any other areas of biology, integral parts of evolutionary theory. With the reference organism as a basis no meaningful reasoning can take place which relates data on radioactivity levels or mutations to potential effects on populations or biodiversity. It is therefore suggested that the national and international bodies involved in radioprotection of the environment take advantage of evolutionary theory as a reference frame. (author)

  13. Development and application of a multi-targeting reference plasmid as calibrator for analysis of five genetically modified soybean events.

    Science.gov (United States)

    Pi, Liqun; Li, Xiang; Cao, Yiwei; Wang, Canhua; Pan, Liangwen; Yang, Litao

    2015-04-01

    Reference materials are important in accurate analysis of genetically modified organism (GMO) contents in food/feeds, and development of novel reference plasmid is a new trend in the research of GMO reference materials. Herein, we constructed a novel multi-targeting plasmid, pSOY, which contained seven event-specific sequences of five GM soybeans (MON89788-5', A2704-12-3', A5547-127-3', DP356043-5', DP305423-3', A2704-12-5', and A5547-127-5') and sequence of soybean endogenous reference gene Lectin. We evaluated the specificity, limit of detection and quantification, and applicability of pSOY in both qualitative and quantitative PCR analyses. The limit of detection (LOD) was as low as 20 copies in qualitative PCR, and the limit of quantification (LOQ) in quantitative PCR was 10 copies. In quantitative real-time PCR analysis, the PCR efficiencies of all event-specific and Lectin assays were higher than 90%, and the squared regression coefficients (R(2)) were more than 0.999. The quantification bias varied from 0.21% to 19.29%, and the relative standard deviations were from 1.08% to 9.84% in simulated samples analysis. All the results demonstrated that the developed multi-targeting plasmid, pSOY, was a credible substitute of matrix reference materials, and could be used as a reliable reference calibrator in the identification and quantification of multiple GM soybean events. PMID:25673245

  14. The Anchoring Concept

    DEFF Research Database (Denmark)

    Simonsen, Jesper

    1998-01-01

    This paper introduces the term 'anchoring' within systems development: Visions, developed through early systems design within an organization, need to be deeply rooted in the organization. A vision's rationale needs to be understood by those who decide if the vision should be implemented as well as...... by those involved in the actual implementation. A model depicting a recent trend within systems development is presented: Organizations rely on purchasing generic software products and/or software development outsourced to external contractors. A contemporary method for participatory design, where...

  15. Genome Sequence of Klebsiella pneumoniae Ecl8, a Reference Strain for Targeted Genetic Manipulation

    OpenAIRE

    Fookes, Maria; Yu, Jing; De Majumdar, Shyamasree; Thomson, Nicholas; Schneiders, Thamarai

    2013-01-01

    We report the genome sequence of Klebsiella pneumoniae subsp. pneumoniae Ecl8, a spontaneous streptomycin-resistant mutant of strain ECL4, derived from NCIB 418. K. pneumoniae Ecl8 has been shown to be genetically tractable for targeted gene deletion strategies and so provides a platform for in-depth analyses of this species.

  16. Systemic lupus erythematosus : Pathogenesis and genetics with special reference to multicase families

    OpenAIRE

    Gröndal, Gerður

    2001-01-01

    Systemic lupus erythematosus (SLE) is a prototype for systemic autoimmune disease. The etiology is largely unknown although valuable knowledge has been accomplished through intensive research in this field in recent years. The aim of this thesis was to achieve increased knowledge of the etiology and pathogenesis, in particular the role of genetic and environmental factors, by the use of a combined epidemiologic and experimental approach. Both Icelandic and Swedish SLE patien...

  17. Daily reference evapotranspiration modeling by using genetic programming approach in the Basque Country (Northern Spain)

    NARCIS (Netherlands)

    Shiri, J.; Kisi, O.; Landeras, G.; Lopez, J.J.; Nazemi, A.H.; Stuyt, L.C.P.M.

    2012-01-01

    Evapotranspiration, as a major component of the hydrological cycle, is of importance for water resources management and development, as well as for estimating the water budget of irrigation schemes. This study presents a Gene Expression Programming (GEP) approach, for estimating daily reference evap

  18. Perceptual anchoring in preschool children: not adultlike, but there.

    Directory of Open Access Journals (Sweden)

    Karen Banai

    Full Text Available BACKGROUND: Recent studies suggest that human auditory perception follows a prolonged developmental trajectory, sometimes continuing well into adolescence. Whereas both sensory and cognitive accounts have been proposed, the development of the ability to base current perceptual decisions on prior information, an ability that strongly benefits adult perception, has not been directly explored. Here we ask whether the auditory frequency discrimination of preschool children also improves when given the opportunity to use previously presented standard stimuli as perceptual anchors, and whether the magnitude of this anchoring effect undergoes developmental changes. METHODOLOGY/PRINCIPAL FINDINGS: Frequency discrimination was tested using two adaptive same/different protocols. In one protocol (with-reference, a repeated 1-kHz standard tone was presented repeatedly across trials. In the other (no-reference, no such repetitions occurred. Verbal memory and early reading skills were also evaluated to determine if the pattern of correlations between frequency discrimination, memory and literacy is similar to that previously reported in older children and adults. Preschool children were significantly more sensitive in the with-reference than in the no-reference condition, but the magnitude of this anchoring effect was smaller than that observed in adults. The pattern of correlations among discrimination thresholds, memory and literacy replicated previous reports in older children. CONCLUSIONS/SIGNIFICANCE: The processes allowing the use of context to form perceptual anchors are already functional among preschool children, albeit to a lesser extent than in adults. Nevertheless, immature anchoring cannot fully account for the poorer frequency discrimination abilities of young children. That anchoring is present among the majority of typically developing preschool children suggests that the anchoring deficits observed among individuals with dyslexia represent a

  19. Systems genetics of liver fibrosis: identification of fibrogenic and expression quantitative trait loci in the BXD murine reference population.

    Directory of Open Access Journals (Sweden)

    Rabea A Hall

    Full Text Available The progression of liver fibrosis in response to chronic injury varies considerably among individual patients. The underlying genetics is highly complex due to large numbers of potential genes, environmental factors and cell types involved. Here, we provide the first toxicogenomic analysis of liver fibrosis induced by carbon tetrachloride in the murine 'genetic reference panel' of recombinant inbred BXD lines. Our aim was to define the core of risk genes and gene interaction networks that control fibrosis progression. Liver fibrosis phenotypes and gene expression profiles were determined in 35 BXD lines. Quantitative trait locus (QTL analysis identified seven genomic loci influencing fibrosis phenotypes (pQTLs with genome-wide significance on chromosomes 4, 5, 7, 12, and 17. Stepwise refinement was based on expression QTL mapping with stringent selection criteria, reducing the number of 1,351 candidate genes located in the pQTLs to a final list of 11 cis-regulated genes. Our findings demonstrate that the BXD reference population represents a powerful experimental resource for shortlisting the genes within a regulatory network that determine the liver's vulnerability to chronic injury.

  20. Systems genetics of liver fibrosis: identification of fibrogenic and expression quantitative trait loci in the BXD murine reference population.

    Science.gov (United States)

    Hall, Rabea A; Liebe, Roman; Hochrath, Katrin; Kazakov, Andrey; Alberts, Rudi; Laufs, Ulrich; Böhm, Michael; Fischer, Hans-Peter; Williams, Robert W; Schughart, Klaus; Weber, Susanne N; Lammert, Frank

    2014-01-01

    The progression of liver fibrosis in response to chronic injury varies considerably among individual patients. The underlying genetics is highly complex due to large numbers of potential genes, environmental factors and cell types involved. Here, we provide the first toxicogenomic analysis of liver fibrosis induced by carbon tetrachloride in the murine 'genetic reference panel' of recombinant inbred BXD lines. Our aim was to define the core of risk genes and gene interaction networks that control fibrosis progression. Liver fibrosis phenotypes and gene expression profiles were determined in 35 BXD lines. Quantitative trait locus (QTL) analysis identified seven genomic loci influencing fibrosis phenotypes (pQTLs) with genome-wide significance on chromosomes 4, 5, 7, 12, and 17. Stepwise refinement was based on expression QTL mapping with stringent selection criteria, reducing the number of 1,351 candidate genes located in the pQTLs to a final list of 11 cis-regulated genes. Our findings demonstrate that the BXD reference population represents a powerful experimental resource for shortlisting the genes within a regulatory network that determine the liver's vulnerability to chronic injury. PMID:24586654

  1. Not all nutrition claims are perceived equal: anchoring effects and moderating mechanisms in food advertising.

    Science.gov (United States)

    Paek, Hye-Jin; Yoon, Hye Jin; Hove, Thomas

    2011-03-01

    Despite the increased use of health claims in food advertising, few studies have investigated how specific nutrition claims have differential effects depending on how they are presented. In this context, the current study tests the anchoring hypothesis. Anchoring refers to a common human tendency to evaluate information differently depending on the presence or absence of a numerical "anchor" or reference point. Two (pilot and main) experimental studies explore anchoring effects on audience response to food advertising both directly and moderated by cognitive, motivational, and message factors. The pilot study finds that food product ads employing nutrition claims with an anchor rather than without an anchor generate two results: First, participants perceive the product to have lower fat/lower calorie contents (anchoring hypothesis); second, they prefer the messages with an anchor over those without an anchor. The main study reports that when anchoring is successfully evoked, it produces favorable attitudes toward the ad, favorable attitudes toward the brand, and purchase intention-but only when moderated by health orientation, claim believability, and nutrition knowledge. Practical implications are provided with respect to regulatory guidelines and effective communication strategies for promoting low-fat and low-calorie products in food advertising. PMID:21308579

  2. Nothing so certain as your anchors? A consumer bias that might lower prices

    OpenAIRE

    Bakó, Barna; Kálecz-Simon, András

    2014-01-01

    Anchoring is a well-known decision-making bias: original guesses for a certain question could act as anchors and could influence our final answers. Reference prices - in a similar fashion - can lead to a bias in consumer valuations, and thus consumer demand will be coherent but not one derived from a utility framework. In our paper we investigate the effect of the existence of anchoring on how oligopolistic firms might change their pricing strategy. More specifically, we analyze the effec...

  3. Role of the "National Reference Centre for Genetically Modified Organisms (GMO) detection" in the official control of food and feed.

    Science.gov (United States)

    Ciabatti, I; Marchesi, U; Froiio, A; Paternò, A; Ruggeri, M; Amaddeo, D

    2005-08-01

    The National Reference Centre for Genetically Modified Organisms (GMO) detection was established in 2002 within the Istituto Zooprofilattico Sperimentale Lazio e Toscana, with the aim of providing scientific and technical support to the National Health System and to the Ministry of Health within the scope of the regulation of GMO use in food and feed.The recently adopted EU legislation on GMOs (Regulation CE no. 1829/2003 and no. 1830/2003) introduced more rigorous procedures for the authorisation, labelling and analytical control of food and feed consisting, containing or derived from GMOs. The National Reference Centre, besides its institutional tasks as one of the laboratories of the Italian National Health System, collects and analyses data and results of the national official control of GMOs; carries out scientific research aimed at developing, improving, validating and harmonising detection and quantification methods, in cooperation with other scientific institutions, the Community Reference Laboratory and within the European Network of GMOs laboratories (ENGL); collaborates with the Ministry of Health in the definition of control programmes and promotes educational and training initiatives. Objectives defined for 2004-2006, activities in progress and goals already achieved are presented. PMID:16244921

  4. Development of a Novel Reference Plasmid for Accurate Quantification of Genetically Modified Kefeng6 Rice DNA in Food and Feed Samples

    OpenAIRE

    Liang Li; Xiujie Zhang; Yusong Wan; Wujun Jin

    2013-01-01

    Reference plasmids are an essential tool for the quantification of genetically modified (GM) events. Quantitative real-time PCR (qPCR) is the most commonly used method to characterize and quantify reference plasmids. However, the precision of this method is often limited by calibration curves, and qPCR data can be affected by matrix differences between the standards and samples. Here, we describe a digital PCR (dPCR) approach that can be used to accurately measure the novel reference plasmid ...

  5. STABILITY IN REAL TIME OF SOME CRYOPRESERVED MICROBIAL STRAINS WITH REFERENCE TO GENETICALLY MODIFIED MICROORGANISMS

    Directory of Open Access Journals (Sweden)

    DANIELA VINTILĂ

    2013-12-01

    Full Text Available The aim of this work is to analyze the viability of microorganisms from Collection of Industrial Microorganisms from Faculty of Animal Science and Biotechnology – Timisoara, during freezing and thawing as part of cryopreservation technique. The stability in real time of 19 strains cryopreserved in 16% glycerol was evaluated during a 6-months period. The strains studied were: Escherichia coli, Lactobacillus acidophilus, Rhizobium meliloti, Saccharomyces cerevisiae, Aspergillus oryzae, Aspergillus niger, Trichoderma viride, Bacillus globigii, Bacillus licheniformis, and 9 strains of Bacillus subtilis. The strains cryopreserved at -20oC and -70oC were activated using the fast thawing protocol. A better cell recovery was achieved with the -70oC protocol reaching an average viability for E. coli of 86,3%, comparing with 78,6% in -20oC protocol. The cell recovery percentages for the other strains were: 92,4% for L. acidophilus, 93,9% for A.niger, 89% for A. oryzae, 86,7% for T. viride, 94,2% for R. meliloti, 82,1% for S. cerevisiae, 89,9% for B. licheniformis. Regarding the viability of genetically modified microorganisms, the values shows a good recovering after freezing and thawing, even after 180 days of cryopreservation. With the -20oC protocol lower viability was observed due probably to the formation of eutectic mixtures and recrystalization processes.

  6. Cross-Reference Benchmarks for Translating the Genetic Soil Classification of China into the Chinese Soil Taxonomy

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Soil classification is the foundation for exchange and extension of research findings in soil science and for modern management of soil resources. This study explained database and research methodology to create a cross-reference system for translating the Genetic Soil Classification of China (GSCC) into the Chinese Soil Taxonomy (CST). With the help of the CST keys, each of the 2 540 soil species in GSCC has been interpreted to its corresponding soil order, suborder,great group, and sub-group in CST. According to the methodology adopted, the assigned soil species have been linked one another to their corresponding polygons in the 1:1000 000 digital soil map of China. Referencibility of each soil species between the GSCC and CST systems was determined statistically on the basis of distribution area of each soil species at a high taxon level of the two systems. The soils were then sorted according to their maximum referencibility and classified into three categories for discussion. There were 19 soil great groups in GSCC with maximum referencibility > 90% and 22great groups between 60%-90%. These soil great groups could serve as cross-reference benchmarks. There were 19 great groups in GSCC with maximum referencibility < 60%, which could be used as cross-reference benchmarks until new and better results were available. For these soils, if the translation was made at a lower soil taxon level or on a regional basis,it would improve their referencibility enabling them to serve as new cross-reference benchmarks.

  7. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... skin to allow removal of some of the soft tissue where the screwlike fixture will be anchored. The ... screen, acting as a hinge. Beneath that the soft tissue consisting of fat and some muscle is removed. ...

  8. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... to allow removal of some of the soft tissue where the screwlike fixture will be anchored. The ... series of slides demonstrates the removal of the tissue beneath the skin flap. You can see in ...

  9. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... The Baha system consists of a bone-anchored titanium fixture that is implanted in the mastoid bone, ... the -- great. I'm going to grab the titanium implant. And what I want you to notice ...

  10. Bone Anchored Hearing Treatment Procedure

    Medline Plus

    Full Text Available ... of the bone oscillator is superficial on the skin, the transference of that energy is less efficient, ... slides, is to mark the location in the skin where the screwlike fixture will be anchored. Subsequent ...

  11. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

    Directory of Open Access Journals (Sweden)

    Stattin Eva-Lena

    2012-10-01

    Full Text Available Abstract Background Long QT syndrome (LQTS is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort. Methods Between March 2006 and October 2009, two hundred, unrelated index cases were referred to the Department of Clinical Genetics, Umeå University Hospital, Sweden, for LQTS genetic testing. We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 for mutations by DHPLC and/or sequencing. We applied MLPA to detect large deletions or duplications in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Furthermore, the gene RYR2 was screened in 36 selected LQTS genotype-negative patients to detect cases with the clinically overlapping disease catecholaminergic polymorphic ventricular tachycardia (CPVT. Results In total, a disease-causing mutation was identified in 103 of the 200 (52% index cases. Of these, altered exon copy numbers in the KCNH2 gene accounted for 2% of the mutations, whereas a RYR2 mutation accounted for 3% of the mutations. The genotype-positive cases stemmed from 64 distinct mutations, of which 28% were novel to this cohort. The majority of the distinct mutations were found in a single case (80%, whereas 20% of the mutations were observed more than once. Two founder mutations, KCNQ1 p.Y111C and KCNQ1 p.R518*, accounted for 25% of the genotype-positive index cases. Genetic cascade screening of 481 relatives to the 103 index cases with an identified mutation revealed 41% mutation carriers who were at risk of cardiac events such as syncope or sudden unexpected death. Conclusion In this cohort of Swedish index cases with suspected LQTS, a disease-causing mutation was identified in 52% of the referred patients. Copy number variations explained 2% of the

  12. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  13. Genetics Home Reference: trichothiodystrophy

    Science.gov (United States)

    ... of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008 ... Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype ...

  14. Genetics Home Reference: erythromelalgia

    Science.gov (United States)

    ... sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord ... normal, increasing the flow of sodium ions into nociceptors. This increase in sodium ions enhances transmission of ...

  15. Genetics Home Reference: anencephaly

    Science.gov (United States)

    ... to close during the first few weeks of embryonic development. The neural tube is a layer of cells ... called vitamin B9). A shortage (deficiency) of this vitamin is an established ... involved in the development of the neural tube have also been studied ...

  16. Genetics Home Reference: bradyopsia

    Science.gov (United States)

    ... such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble ... Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013 Jan;33(1):5- ...

  17. Genetics Home Reference: porphyria

    Science.gov (United States)

    ... Aug 16;143(4):316. Citation on PubMed Badminton MN, Elder GH. Molecular mechanisms of dominant expression ... SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker ...

  18. Genetics Home Reference: pilomatricoma

    Science.gov (United States)

    ... follicles are specialized structures in the skin where hair growth occurs. Pilomatricomas occur most often on the head ... the WNT signaling pathway . This pathway promotes the growth and ... of hair follicles . This protein is active in cells that ...

  19. Genetics Home Reference: monilethrix

    Science.gov (United States)

    ... clinicopathological illustration of a cortical defect. Br J Dermatol. 1993 Mar;128(3):327-31. Citation on ... Zlotogorski A. De novo mutations in monilethrix. Exp Dermatol. 2003 Dec;12(6):882-5. Citation on ...

  20. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... common inherited form of high cholesterol is called familial hypercholesterolemia . This condition affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners ...

  1. Genetics Home Reference: coloboma

    Science.gov (United States)

    ... the optic nerve, vision problems such as nearsightedness ( myopia ), involuntary back-and-forth eye movements (nystagmus), or ... altered gene in each cell is sufficient to cause the disorder. Isolated coloboma can also be inherited ...

  2. Genetics Home Reference: aspartylglucosaminuria

    Science.gov (United States)

    ... 2 or 3, is usually delayed speech. Mild intellectual disability then becomes apparent, and learning occurs at a slowed pace. Intellectual disability progressively worsens in adolescence. Most people with this ...

  3. Genetics Home Reference: hypophosphatasia

    Science.gov (United States)

    ... have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead ...

  4. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... common form of homocystinuria is characterized by nearsightedness ( myopia ), dislocation of the lens at the front of ... mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat. ...

  5. Genetics Home Reference: alkaptonuria

    Science.gov (United States)

    ... Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol. 2013 May;66(5): ... Reviewed : November 2013 Published : August 30, 2016 The resources on this site should not be used as a ... of Health & Human Services National Institutes of Health National Library of ...

  6. Genetics Home Reference: histidinemia

    Science.gov (United States)

    ... by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... shortage (deficiency) of the enzyme that breaks down histidine. Histidinemia typically causes no health problems, and most ...

  7. Genetics Home Reference: polymicrogyria

    Science.gov (United States)

    ... with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria , affects the entire brain. This condition causes severe intellectual disability, problems with ...

  8. Genetics Home Reference: hypochondroplasia

    Science.gov (United States)

    ... Description Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into ... Hypochondroplasia is similar to another skeletal disorder called achondroplasia , but the features tend to be milder. All ...

  9. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... of red blood cells ( anemia ). This type of anemia is called hemolytic anemia. Affected individuals sometimes have abnormally shaped red blood ... membranes stiff and prone to rupture, leading to hemolytic anemia. Changes in the lipid composition of the membranes ...

  10. Genetics Home Reference: neuroblastoma

    Science.gov (United States)

    ... it appears to play an important role in cell proliferation. Mutations in the ALK gene result in an ... Constitutively active anaplastic lymphoma kinase may induce abnormal proliferation of immature nerve cells and lead to neuroblastoma . Several mutations in the ...

  11. Genetics Home Reference: hypochondrogenesis

    Science.gov (United States)

    ... for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that ... is present in the nose and external ears. Type II collagen is essential for the normal development of bones ...

  12. Genetics Home Reference: fibrochondrogenesis

    Science.gov (United States)

    ... these genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure ... that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible ...

  13. Genetics Home Reference: achondrogenesis

    Science.gov (United States)

    ... for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the ... the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues ...

  14. Genetics Home Reference: hemophilia

    Science.gov (United States)

    ... Review. Citation on PubMed Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia ... 6(6):488-501. Review. Citation on PubMed Oldenburg J, El-Maarri O. New insight into the ...

  15. Permanent ground anchors: Nicholson design criteria

    Science.gov (United States)

    Nicholson, P. J.; Uranowski, D. D.; Wycliffe-Jones, P. T.

    1982-09-01

    The methods used by Nicholson Construction Company in the design of permanent ground anchors specifically as related to retaining walls are discussed. Basic soil parameters, design concepts, drilling and grouting methods for ground anchors are discussed. Particular emphasis is placed on anchors founded in soil rather than rock formations. Also, soil properties necessary for the proper design of anchored retaining walls are detailed. The second chapter of the report is devoted to a general discussion of retaining wall and anchor design. In addition, a design example of an anchored retaining wall is presented in a step by step manner.

  16. Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.

    Directory of Open Access Journals (Sweden)

    Martin Mascher

    Full Text Available The rapid development of next-generation sequencing platforms has enabled the use of sequencing for routine genotyping across a range of genetics studies and breeding applications. Genotyping-by-sequencing (GBS, a low-cost, reduced representation sequencing method, is becoming a common approach for whole-genome marker profiling in many species. With quickly developing sequencing technologies, adapting current GBS methodologies to new platforms will leverage these advancements for future studies. To test new semiconductor sequencing platforms for GBS, we genotyped a barley recombinant inbred line (RIL population. Based on a previous GBS approach, we designed bar code and adapter sets for the Ion Torrent platforms. Four sets of 24-plex libraries were constructed consisting of 94 RILs and the two parents and sequenced on two Ion platforms. In parallel, a 96-plex library of the same RILs was sequenced on the Illumina HiSeq 2000. We applied two different computational pipelines to analyze sequencing data; the reference-independent TASSEL pipeline and a reference-based pipeline using SAMtools. Sequence contigs positioned on the integrated physical and genetic map were used for read mapping and variant calling. We found high agreement in genotype calls between the different platforms and high concordance between genetic and reference-based marker order. There was, however, paucity in the number of SNP that were jointly discovered by the different pipelines indicating a strong effect of alignment and filtering parameters on SNP discovery. We show the utility of the current barley genome assembly as a framework for developing very low-cost genetic maps, facilitating high resolution genetic mapping and negating the need for developing de novo genetic maps for future studies in barley. Through demonstration of GBS on semiconductor sequencing platforms, we conclude that the GBS approach is amenable to a range of platforms and can easily be modified as new

  17. El “Anclaje y Ajuste”, una herramienta de Marketing para analizar el poder de las referencias en el Arte, el Diseño y la Arquitectura = "Anchoring and Adjustment", a Marketing tool to analyse references in Art, Design and Architecture

    Directory of Open Access Journals (Sweden)

    Guillermo García-Badell

    2014-12-01

    , it is taken for granted that artistic and creative works' judgments are also influenced by references. However, there is a big lack of study in the way those judgments are made. From an economic point of view, we would like to describe how a product would be sold only knowing how it has been designed. However, in terms of Marketing it seems nonsensical to think about the selling consequences without studying the Consumer Behaviour before the definitive choice. The “Anchoring and Adjustment” effect describes, from a Marketing point of view, how references are needed to judge any product. Therefore, the purpose of this paper is to explain how “Anchoring and Adjustment” effect works and how it could be used to further Art, Design, and Architecture analyses.

  18. DEX-1 and DYF-7 establish sensory dendrite length by anchoring dendritic tips during cell migration

    OpenAIRE

    Heiman, Maxwell G.; Shaham, Shai

    2009-01-01

    Cells are devices whose structures delimit function. For example, in the nervous system, neuronal and glial shapes dictate paths of information flow. To understand how cells acquire their shapes, we examined the formation of a sense organ in C. elegans. Using time-lapse imaging, we found that sensory dendrites form by stationary anchoring of dendritic tips during cell-body migration. A genetic screen identified DEX-1 and DYF-7, extracellular proteins required for dendritic tip anchoring, whic...

  19. Anchoring in numeric judgments of visual stimuli

    Directory of Open Access Journals (Sweden)

    Linda eLangeborg

    2016-02-01

    Full Text Available This article investigates effects of anchoring in age estimation and estimation of quantities, two tasks which to different extents are based on visual stimuli. The results are compared to anchoring in answers to classic general knowledge questions that rely on semantic knowledge. Cognitive load was manipulated to explore possible differences between domains. Effects of source credibility, manipulated by differing instructions regarding the selection of anchor values (no information regarding anchor selection, information that the anchors are randomly generated or information that the anchors are answers from an expert on anchoring were also investigated. Effects of anchoring were large for all types of judgments but were not affected by cognitive load or by source credibility in either one of the researched domains. A main effect of cognitive load on quantity estimations and main effects of source credibility in the two visually based domains indicate that the manipulations were efficient. Implications for theoretical explanations of anchoring are discussed. In particular, because anchoring did not interact with source credibility or cognitive load, the results imply that the process behind anchoring in visual tasks is predominantly automatic and unconscious.

  20. Inconspicuous anchoring effects generated by false information

    Institute of Scientific and Technical Information of China (English)

    Chen Qu; Jun Wang; Yuejia Luo

    2008-01-01

    The impact of false information on numerical judgments was examined on young normal subjects by an event-related potential (ERP) experiment. To imitate the judgments in real world, we ensured the subjects acknowledged of the target task. The behavioral results found that both uncertain information and false information assimilated the final estimates: higher after higher anchors and lower after lower anchors; and false information caused a weaker anchoring bias than uncertain information. ERP results provided further electrophysiological evidence for the mechanism of anchoring. In the early phrase, it was an accessibility-dominated process in which two kinds of anchors elicited an N300 component related to the accessibility of anchors propositions. The knowledge relevant to targets joined the process in the late phrase, which caused a larger amplitude of late positive component (LPC) for implausible lower anchors than that for plausible higher anchors. Source analysis showed that medial frontal gyrus, whose activity was suggested to signal the need of adjustment, was more reliable to explain the LPC elicited by implausible lower anchors. Therefore, we suggest that accessibility is facilitated when the external anchor is consistent with the world knowledge, and adjustment is initiated when the external anchor is inconsistent.

  1. Anchoring in Numeric Judgments of Visual Stimuli.

    Science.gov (United States)

    Langeborg, Linda; Eriksson, Mårten

    2016-01-01

    This article investigates effects of anchoring in age estimation and estimation of quantities, two tasks which to different extents are based on visual stimuli. The results are compared to anchoring in answers to classic general knowledge questions that rely on semantic knowledge. Cognitive load was manipulated to explore possible differences between domains. Effects of source credibility, manipulated by differing instructions regarding the selection of anchor values (no information regarding anchor selection, information that the anchors are randomly generated or information that the anchors are answers from an expert) on anchoring were also investigated. Effects of anchoring were large for all types of judgments but were not affected by cognitive load or by source credibility in either one of the researched domains. A main effect of cognitive load on quantity estimations and main effects of source credibility in the two visually based domains indicate that the manipulations were efficient. Implications for theoretical explanations of anchoring are discussed. In particular, because anchoring did not interact with cognitive load, the results imply that the process behind anchoring in visual tasks is predominantly automatic and unconscious. PMID:26941684

  2. Unintended anchors: Building rating systems and energy performance goals for U.S. buildings

    International Nuclear Information System (INIS)

    In the U.S., where buildings account for 40% of energy use, commercial buildings use more energy per unit area than ever before. However, exemplary buildings demonstrate the feasibility of much better energy performance at no additional first cost. This research examines one possible explanation for this inconsistency. The aim is to investigate whether the anchoring bias, which refers to our tendency to gravitate towards a pre-defined standard regardless of its relevance, influences energy performance goals in building design. The scope examines professionals who help set energy performance goals for U.S. buildings. Prior to being asked to set an energy performance goal, these professionals were randomly directed to one of three series of questions. One series set an anchor of 90% energy reduction beyond standard practice, one set a 30% anchor, and one set no anchor. Respondents exposed to the 90% anchor, and respondents exposed to no anchor at all, set higher energy performance goals than respondents exposed to the 30% anchor. These results suggest that building rating systems that only reward incremental energy improvements may inadvertently create anchors, thereby discouraging more advanced energy performance goals and inhibiting energy performance that is technically and economically feasible.

  3. Characterizing the flow of stirred vessels with anchor type impellers

    Directory of Open Access Journals (Sweden)

    Peixoto S.M.C.

    2000-01-01

    Full Text Available Despite its importance in chemical industries, there are few works which studies anchor type impellers and only a fraction of the works investigate these systems under a computational approach. The great majority refers to turbine impellers, specially Rushton turbines, under turbulent flow. Anchor impellers are used specially for highly viscous flow, typical of polymer reactions. The viscosity is normally in the range 1000-10000 cp. Since this range of viscosity describe highly viscous flows, the reactions for anchor agitated systems are normally carried out under laminar flow. This work presents a detailed computational fluid dynamics (CFD approach to study the behaviour of stirred vessels using anchor impellers. The axial plane of the tank, which is being modelled, is divided into small control volumes, which collectively is referred to as the mesh, or grid. In each of these cells the momentum balance, energy and mass conservation, which describes the model, are rewritten algebraically using the finite volumes method to relate such variables as velocity, pressure and temperature to values in neighbouring cells. The equations are then solved numerically, and the results yield the flow corresponding to the model. Since the geometry of a vessel with anchor impellers strictly calls for a three dimensional method, an approximation is made to account for the effect of the blades (Kuncewics, 1992. The main objective of this work is to give a detailed description of the flow generated by this axial impeller with a view to indicate ways in which the design and operation of these systems can be improved.

  4. Anchors and their use in offshore petroleum operations

    Energy Technology Data Exchange (ETDEWEB)

    1984-01-01

    Holding a ship or vessel in a fixed position over specific spots is essential in drilling subsea wells. Conventional anchors and holding systems have thus been transformed into permanent mooring points capable of withstanding enormous stresses. This book specifies the parameters directly governing behavior of these new anchors, studies the mechanisms involved in anchor/seabed interaction and interprets these in the context of soil mechanics, and draws practical conclusions in the form of methods for predicting holding capacity in different types of subsea soils. Contents are: history of anchors; high-capacity anchoring systems; kinetics of anchors; holding power of anchors; anchoring site survey; choice of an anchor; and anchoring tests.

  5. Shifting Nominal Anchors: The Experience of Mexico

    OpenAIRE

    Leonardo Leiderman; Nissan Liviatan; Alfredo Thorne

    1995-01-01

    In the mid-1980’s Mexico successfully brought down its high rate of inflation by using the exchange rate as nominal anchor in combination with strict fiscal discipline, tight monetary policy, and incomes policy. This paper discusses the role of exchange rate policy as nominal anchor in Mexico and develops the inflation target as the monetary framework for anchoring prices. It also describes how Mexico is applying this frame work while shifting to a more flexible exchange regime and discusses ...

  6. Capital Asset Pricing Model Adjusted for Anchoring

    OpenAIRE

    Hammad, Siddiqi

    2015-01-01

    I show that adjusting CAPM for anchoring provides a unified explanation for the size, value, and momentum effects. Anchoring adjusted CAPM (ACAPM) predicts that stock splits are associated with positive abnormal returns and an increase in return volatility, whereas the reverse stock-splits are associated with negative abnormal returns and a fall in return volatility. Existing empirical evidence strongly supports these predictions. Anchoring has the effect of pushing up the equity premium, a ...

  7. A specific endogenous reference for genetically modified common bean (Phaseolus vulgaris L.) DNA quantification by real-time PCR targeting lectin gene.

    Science.gov (United States)

    Venturelli, Gustavo L; Brod, Fábio C A; Rossi, Gabriela B; Zimmermann, Naíra F; Oliveira, Jaison P; Faria, Josias C; Arisi, Ana C M

    2014-11-01

    The Embrapa 5.1 genetically modified (GM) common bean was approved for commercialization in Brazil. Methods for the quantification of this new genetically modified organism (GMO) are necessary. The development of a suitable endogenous reference is essential for GMO quantification by real-time PCR. Based on this, a new taxon-specific endogenous reference quantification assay was developed for Phaseolus vulgaris L. Three genes encoding common bean proteins (phaseolin, arcelin, and lectin) were selected as candidates for endogenous reference. Primers targeting these candidate genes were designed and the detection was evaluated using the SYBR Green chemistry. The assay targeting lectin gene showed higher specificity than the remaining assays, and a hydrolysis probe was then designed. This assay showed high specificity for 50 common bean samples from two gene pools, Andean and Mesoamerican. For GM common bean varieties, the results were similar to those obtained for non-GM isogenic varieties with PCR efficiency values ranging from 92 to 101 %. Moreover, this assay presented a limit of detection of ten haploid genome copies. The primers and probe developed in this work are suitable to detect and quantify either GM or non-GM common bean. PMID:25078400

  8. Method of fabrication of anchored nanostructure materials

    Science.gov (United States)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2013-11-26

    Methods for fabricating anchored nanostructure materials are described. The methods include heating a nano-catalyst under a protective atmosphere to a temperature ranging from about 450.degree. C. to about 1500.degree. C. and contacting the heated nano-catalysts with an organic vapor to affix carbon nanostructures to the nano-catalysts and form the anchored nanostructure material.

  9. Suction anchors for floating production systems

    Energy Technology Data Exchange (ETDEWEB)

    Tjelta, T.I.; Rusas, P. [Statoil a.s. (Norway); Edvardsen, G. [HEX a.s. (Norway)

    1996-12-31

    Since the suction anchor is a recent development in its current use, this work provides a brief historical background. It is shown that the suction anchor throughout evolution today is a competitive foundation solution for many applications. Examples from these categories are included in this paper. Also several installation methods are discussed. 3 refs., 7 figs., 2 tabs.

  10. Development and Integration of Genome-Wide Polymorphic Microsatellite Markers onto a Reference Linkage Map for Constructing a High-Density Genetic Map of Chickpea.

    Directory of Open Access Journals (Sweden)

    Yash Paul Khajuria

    Full Text Available The identification of informative in silico polymorphic genomic and genic microsatellite markers by comparing the genome and transcriptome sequences of crop genotypes is a rapid, cost-effective and non-laborious approach for large-scale marker validation and genotyping applications, including construction of high-density genetic maps. We designed 1494 markers, including 1016 genomic and 478 transcript-derived microsatellite markers showing in-silico fragment length polymorphism between two parental genotypes (Cicer arietinum ICC4958 and C. reticulatum PI489777 of an inter-specific reference mapping population. High amplification efficiency (87%, experimental validation success rate (81% and polymorphic potential (55% of these microsatellite markers suggest their effective use in various applications of chickpea genetics and breeding. Intra-specific polymorphic potential (48% detected by microsatellite markers in 22 desi and kabuli chickpea genotypes was lower than inter-specific polymorphic potential (59%. An advanced, high-density, integrated and inter-specific chickpea genetic map (ICC4958 x PI489777 having 1697 map positions spanning 1061.16 cM with an average inter-marker distance of 0.625 cM was constructed by assigning 634 novel informative transcript-derived and genomic microsatellite markers on eight linkage groups (LGs of our prior documented, 1063 marker-based genetic map. The constructed genome map identified 88, including four major (7-23 cM longest high-resolution genomic regions on LGs 3, 5 and 8, where the maximum number of novel genomic and genic microsatellite markers were specifically clustered within 1 cM genetic distance. It was for the first time in chickpea that in silico FLP analysis at genome-wide level was carried out and such a large number of microsatellite markers were identified, experimentally validated and further used in genetic mapping. To best of our knowledge, in the presently constructed genetic map, we mapped

  11. Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.

    Science.gov (United States)

    Gallego, Carlos J; Perez, Matthew L; Burt, Amber; Amendola, Laura M; Shirts, Brian H; Pritchard, Colin C; Hisama, Fuki M; Bennett, Robin L; Veenstra, David L; Jarvik, Gail P

    2016-06-01

    Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population. PMID:26637299

  12. Development of a Novel Reference Plasmid for Accurate Quantification of Genetically Modified Kefeng6 Rice DNA in Food and Feed Samples

    Directory of Open Access Journals (Sweden)

    Liang Li

    2013-01-01

    Full Text Available Reference plasmids are an essential tool for the quantification of genetically modified (GM events. Quantitative real-time PCR (qPCR is the most commonly used method to characterize and quantify reference plasmids. However, the precision of this method is often limited by calibration curves, and qPCR data can be affected by matrix differences between the standards and samples. Here, we describe a digital PCR (dPCR approach that can be used to accurately measure the novel reference plasmid pKefeng6 and quantify the unauthorized variety of GM rice Kefeng6, eliminating the issues associated with matrix effects in calibration curves. The pKefeng6 plasmid was used as a calibrant for the quantification of Kefeng6 rice by determining the copy numbers of event- (77 bp and taxon-specific (68 bp fragments, their ratios, and their concentrations. The plasmid was diluted to five different concentrations. The third sample (S3 was optimized for the quantification range of dPCR according to previous reports. The ratio between the two fragments was 1.005, which closely approximated the value certified by sequencing, and the concentration was found to be 792 copies/μL. This method was precise, with an RSD of ~3%. These findings demonstrate the advantages of using the dPCR method to characterize reference materials.

  13. Anchored boundary conditions for locally isostatic networks

    Science.gov (United States)

    Theran, Louis; Nixon, Anthony; Ross, Elissa; Sadjadi, Mahdi; Servatius, Brigitte; Thorpe, M. F.

    2015-11-01

    Finite pieces of locally isostatic networks have a large number of floppy modes because of missing constraints at the surface. Here we show that by imposing suitable boundary conditions at the surface the network can be rendered effectively isostatic. We refer to these as anchored boundary conditions. An important example is formed by a two-dimensional network of corner sharing triangles, which is the focus of this paper. Another way of rendering such networks isostatic is by adding an external wire along which all unpinned vertices can slide (sliding boundary conditions). This approach also allows for the incorporation of boundaries associated with internal holes and complex sample geometries, which are illustrated with examples. The recent synthesis of bilayers of vitreous silica has provided impetus for this work. Experimental results from the imaging of finite pieces at the atomic level need such boundary conditions, if the observed structure is to be computer refined so that the interior atoms have the perception of being in an infinite isostatic environment.

  14. DEX-1 and DYF-7 establish sensory dendrite length by anchoring dendritic tips during cell migration.

    Science.gov (United States)

    Heiman, Maxwell G; Shaham, Shai

    2009-04-17

    Cells are devices whose structures delimit function. For example, in the nervous system, neuronal and glial shapes dictate paths of information flow. To understand how cells acquire their shapes, we examined the formation of a sense organ in C. elegans. Using time-lapse imaging, we found that sensory dendrites form by stationary anchoring of dendritic tips during cell-body migration. A genetic screen identified DEX-1 and DYF-7, extracellular proteins required for dendritic tip anchoring, which act cooperatively at the time and place of anchoring. DEX-1 and DYF-7 contain, respectively, zonadhesin and zona pellucida domains, and DYF-7 self-associates into multimers important for anchoring. Thus, unlike other dendrites, amphid dendritic tips are positioned by DEX-1 and DYF-7 without the need for long-range guidance cues. In sequence and function, DEX-1 and DYF-7 resemble tectorins, which anchor stereocilia in the inner ear, suggesting that a sensory dendrite anchor may have evolved into part of a mechanosensor. PMID:19344940

  15. Construction and characterization of secreted and chimeric transmembrane forms of Drosophila acetylcholinesterase: a large truncation of the C-terminal signal peptide does not eliminate glycoinositol phospholipid anchoring.

    OpenAIRE

    Incardona, J P; Rosenberry, T. L.

    1996-01-01

    Despite advances in understanding the cell biology of glycoinositol phospholipid (GPI)-anchored proteins in cultured cells, the in vivo functions of GPI anchors have remained elusive. We have focused on Drosophila acetylcholinesterase (AChE) as a model GPI-anchored protein that can be manipulated in vivo with sophisticated genetic techniques. In Drosophila, AChE is found only as a GPI-anchored G2 form encoded by the Ace locus on the third chromosome. To pursue our goal of replacing wild-type ...

  16. High-throughput physical map anchoring via BAC-pool sequencing

    Czech Academy of Sciences Publication Activity Database

    Cviková, Kateřina; Cattonaro, F.; Alaux, M.; Stein, N.; Mayer, K.F.X.; Doležel, Jaroslav; Bartoš, Jan

    2015-01-01

    Roč. 15, APR 11 (2015). ISSN 1471-2229 R&D Projects: GA ČR GA13-08786S; GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : Physical map * Contig anchoring * Next generation sequencing Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.813, year: 2014

  17. Anchored nanostructure materials and method of fabrication

    Science.gov (United States)

    Seals, Roland D; Menchhofer, Paul A; Howe, Jane Y; Wang, Wei

    2012-11-27

    Anchored nanostructure materials and methods for their fabrication are described. The anchored nanostructure materials may utilize nano-catalysts that include powder-based or solid-based support materials. The support material may comprise metal, such as NiAl, ceramic, a cermet, or silicon or other metalloid. Typically, nanoparticles are disposed adjacent a surface of the support material. Nanostructures may be formed as anchored to nanoparticles that are adjacent the surface of the support material by heating the nano-catalysts and then exposing the nano-catalysts to an organic vapor. The nanostructures are typically single wall or multi-wall carbon nanotubes.

  18. Pash 2.0: scaleable sequence anchoring for next-generation sequencing technologies.

    Science.gov (United States)

    Coarfa, Cristian; Milosavljevic, Aleksandar

    2008-01-01

    Many applications of next-generation sequencing technologies involve anchoring of a sequence fragment or a tag onto a corresponding position on a reference genome assembly. Positional Hashing method, implemented in the Pash 2.0 program, is specifically designed for the task of high-volume anchoring. In this article we present multi-diagonal gapped kmer collation and other improvements introduced in Pash 2.0 that further improve accuracy and speed of Positional Hashing. The goal of this article is to show that gapped kmer matching with cross-diagonal collation suffices for anchoring across close evolutionary distances and for the purpose of human resequencing. We propose a benchmark for evaluating the performance of anchoring programs that captures key parameters in specific applications, including duplicative structure of genomes of humans and other species. We demonstrate speedups of up to tenfold in large-scale anchoring experiments achieved by PASH 2.0 when compared to BLAT, another similarity search program frequently used for anchoring. PMID:18229679

  19. Mooring Anchors for Marine Renewable Energy Foundations

    OpenAIRE

    Stevens, Robert F.; Rahim, Amir

    2014-01-01

    With the increasing use of offshore wind turbines, it has become necessary to explore deep-water sites for locating wind farms. Floating turbines are an ideal choice for these locations. Such turbines are anchored with mooring chains to the sea floor using suction anchors, driven piles or gravity foundations. This paper presents design methods for these types of foundations. Moored gravity foundations have been used for the much larger floating oil and gas installations. These concrete founda...

  20. Anchoring Adjusted Capital Asset Pricing Model

    OpenAIRE

    Hammad, Siddiqi

    2015-01-01

    An anchoring adjusted Capital Asset Pricing Model (ACAPM) is developed in which the payoff volatilities of well-established stocks are used as starting points that are adjusted to form volatility judgments about other stocks. Anchoring heuristic implies that such adjustments are typically insufficient. ACAPM converges to CAPM with correct adjustment, so CAPM is a special case of ACAPM. The model provides a unified explanation for the size, value, and momentum effects in the stock market. A ke...

  1. Quantification of genetically modified soybeans using a combination of a capillary-type real-time PCR system and a plasmid reference standard.

    Science.gov (United States)

    Toyota, Akie; Akiyama, Hiroshi; Sugimura, Mitsunori; Watanabe, Takahiro; Kikuchi, Hiroyuki; Kanamori, Hisayuki; Hino, Akihiro; Esaka, Muneharu; Maitani, Tamio

    2006-04-01

    Because the labeling of grains and feed- and foodstuffs is mandatory if the genetically modified organism (GMO) content exceeds a certain level of approved genetically modified varieties in many countries, there is a need for a rapid and useful method of GMO quantification in food samples. In this study, a rapid detection system was developed for Roundup Ready Soybean (RRS) quantification using a combination of a capillary-type real-time PCR system, a LightCycler real-time PCR system, and plasmid DNA as the reference standard. In addition, we showed for the first time that the plasmid and genomic DNA should be similar in the established detection system because the PCR efficiencies of using plasmid DNA and using genomic DNA were not significantly different. The conversion factor (Cf) to calculate RRS content (%) was further determined from the average value analyzed in three laboratories. The accuracy and reproducibility of this system for RRS quantification at a level of 5.0% were within a range from 4.46 to 5.07% for RRS content and within a range from 2.0% to 7.0% for the relative standard deviation (RSD) value, respectively. This system rapidly monitored the labeling system and had allowable levels of accuracy and precision. PMID:16636447

  2. Construction of a reference linkage map of Vitis amurensis and genetic mapping of Rpv8, a locus conferring resistance to grapevine downy mildew.

    Science.gov (United States)

    Blasi, Paule; Blanc, Sophie; Wiedemann-Merdinoglu, Sabine; Prado, Emilce; Rühl, Ernst H; Mestre, Pere; Merdinoglu, Didier

    2011-06-01

    Downy mildew, caused by the oomycete Plasmopara viticola, is one of the major threats to grapevine. All traditional cultivars of grapevine (Vitis vinifera) are susceptible to downy mildew, the control of which requires regular application of fungicides. In contrast, many sources of resistance to P. viticola have been described in the Vitis wild species, among which is V. amurensis Rupr. (Vitaceae), a species originating from East Asia. A genetic linkage map of V. amurensis, based on 122 simple sequence repeat and 6 resistance gene analogue markers, was established using S1 progeny. This map covers 975 cM on 19 linkage groups, which represent 82% of the physical coverage of the V. vinifera reference genetic map. To measure the general level of resistance, the sporulation of P. viticola and the necrosis produced in response to infection, five quantitative and semi-quantitative parameters were scored 6 days post-inoculation on the S1 progeny. A quantitative trait locus (QTL) analysis allowed us to identify on linkage group 14 a major QTL controlling the resistance to downy mildew found in V. amurensis, which explained up to 86.3% of the total phenotypic variance. This QTL was named 'Resistance to Plasmopara viticola 8' (Rpv8). PMID:21404060

  3. A reference genetic map of Muscadinia rotundifolia and identification of Ren5, a new major locus for resistance to grapevine powdery mildew.

    Science.gov (United States)

    Blanc, Sophie; Wiedemann-Merdinoglu, Sabine; Dumas, Vincent; Mestre, Pere; Merdinoglu, Didier

    2012-12-01

    Muscadinia rotundifolia, a species closely related to cultivated grapevine Vitis vinifera, is a major source of resistance to grapevine downy and powdery mildew, two major threats to cultivated traditional cultivars of V. vinifera respectively caused by the oomycete Plasmopara viticola and the ascomycete Erisyphe necator. The aim of the present work was to develop a reference genetic linkage map based on simple sequence repeat (SSR) markers for M. rotundifolia. This map was created using S1 M. rotundifolia cv. Regale progeny, and covers 948 cM on 20 linkage groups, which corresponds to the expected chromosome number for muscadine. The comparison of the genetic maps of V. vinifera and M. rotundifolia revealed a high macrosynteny between the genomes of both species. The S1 progeny was used to assess the general level of resistance of M. rotundifolia to P. viticola and E. necator, by scoring different parameters of pathogen development. A quantitative trait locus (QTL) analysis allowed us to highlight a major QTL on linkage group 14 controlling resistance to powdery mildew, which explained up to 58 % of the total phenotypic variance. This QTL was named 'Resistance to Erysiphe Necator 5' (Ren5). A microscopic evaluation E. necator mycelium development on resistant and susceptible genotypes of the S1 progeny showed that Ren5 exerts its action after the formation of the first appressorium, and acts by delaying, and then stopping, mycelium development. PMID:22865124

  4. Examining the genetic variation of reference microbial cultures used within food and environmental laboratories using fluorescent amplified fragment length polymorphism analysis.

    Science.gov (United States)

    Cross, Lisa Jane; Russell, Julie Elizabeth; Desai, Meeta

    2011-08-01

    Fluorescent amplified fragment length polymorphism (FAFLP) analysis was applied to genetically fingerprint 'working culture control strains' used by accredited food microbiology laboratories. A working culture control strain is defined as a subculture from a strain initially obtained from an authenticated source [such as the National Collection of Type Cultures (NCTC)] that is maintained for use with routine testing within the laboratory. Working culture control strains from eight food examination laboratories, representing four bacterial species, were analysed by FAFLP; these were Salmonella Nottingham, Staphylococcus aureus, Listeria monocytogenes and Bacillus cereus. The resultant FAFLP profiles of the eight working culture control strains for each of these species were compared against the appropriate freeze-dried ampoules obtained directly from NCTC. FAFLP results demonstrated that within 50% of working cultures analysed, several laboratories were routinely using working cultures that were genetically different from the original reference NCTC strains. This study highlights the need for laboratories to review the protocols used to process and maintain control strains and working cultures, with a potential view to utilize single-use quality control materials. PMID:21623896

  5. Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

    Science.gov (United States)

    Tester, David J.; Medeiros-Domingo, Argelia; Will, Melissa L.; Haglund, Carla M.; Ackerman, Michael J.

    2012-01-01

    Objective To perform long QT syndrome and catecholaminergic polymorphic ventricular tachycardia cardiac channel postmortem genetic testing (molecular autopsy) for a large cohort of cases of autopsy-negative sudden unexplained death (SUD). Methods From September 1, 1998, through October 31, 2010, 173 cases of SUD (106 males; mean ± SD age, 18.4±12.9 years; age range, 1-69 years; 89% white) were referred by medical examiners or coroners for a cardiac channel molecular autopsy. Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, a comprehensive mutational analysis of the long QT syndrome susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) and a targeted analysis of the catecholaminergic polymorphic ventricular tachycardia type 1–associated gene (RYR2) were conducted. Results Overall, 45 putative pathogenic mutations absent in 400 to 700 controls were identified in 45 autopsy-negative SUD cases (26.0%). Females had a higher yield (26/67 [38.8%]) than males (19/106 [17.9%]; P<.005). Among SUD cases with exercise-induced death, the yield trended higher among the 1- to 10-year-olds (8/12 [66.7%]) compared with the 11- to 20-year-olds (4/27 [14.8%]; P=.002). In contrast, for those who died during a period of sleep, the 11- to 20-year-olds had a higher yield (9/25 [36.0%]) than the 1- to 10-year-olds (1/24 [4.2%]; P=.01). Conclusion Cardiac channel molecular autopsy should be considered in the evaluation of autopsy-negative SUD. Several interesting genotype-phenotype observations may provide insight into the expected yields of postmortem genetic testing for SUD and assist in selecting cases with the greatest potential for mutation discovery and directing genetic testing efforts. PMID:22677073

  6. Anchors as Semantic Primes in Value Construction: An EEG Study of the Anchoring Effect.

    Directory of Open Access Journals (Sweden)

    Qingguo Ma

    Full Text Available Previous research regarding anchoring effects has demonstrated that human judgments are often assimilated to irrelevant information. Studies have demonstrated that anchors influence the economic valuation of various products and experiences; however, the cognitive explanations of this effect remain controversial, and its neural mechanisms have rarely been explored. In the current study, we conducted an electroencephalography (EEG experiment to investigate the anchoring effect on willingness to accept (WTA for an aversive hedonic experience and the role of anchors in this judgment heuristic. The behavioral results demonstrated that random numbers affect participants' WTA for listening to pieces of noise. The participants asked for higher pay after comparing their WTA with higher numbers. The EEG results indicated that anchors also influenced the neural underpinnings of the valuation process. Specifically, when a higher anchor number was drawn, larger P2 and late positive potential amplitudes were elicited, reflecting the anticipation of more intensive pain from the subsequent noise. Moreover, higher anchors induced a stronger theta band power increase compared with lower anchors when subjects listened to the noises, indicating that the participants felt more unpleasant during the actual experience of the noise. The levels of unpleasantness during both anticipation and experience were consistent with the semantic information implied by the anchors. Therefore, these data suggest that a semantic priming process underlies the anchoring effect in WTA. This study provides proof for the robustness of the anchoring effect and neural evidence of the semantic priming model. Our findings indicate that activated contextual information, even seemingly irrelevant, can be embedded in the construction of economic value in the brain.

  7. Monitoring ground anchor using non-destructive ground anchor integrity test (NDT-GRANIT)

    International Nuclear Information System (INIS)

    Monitoring at ground anchor commonly uses a pull out test method, therefor we developing a non-destructive ground anchor integrity testing (NDT-GRANIT). NDT-GRANIT using the principle of seismic waves that have been modified into form of sweep signal, the signal will be demodulated, filtered, and Fourier transformation (inverse discrete Fourier transform) so the data can be interpreted reflected wave from the ground anchor. The method was applied to determine whether the ground anchor still gripped in the subsurface by looking the attenuation of the wave generated sources. From the result we can see that ground anchor does not grip. To validate the results of the comparison method of measurement used pile integrity test

  8. Determination of azimuthal anchoring strength in twisted nematic liquid crystal cells using heterodyne polarimeter.

    Science.gov (United States)

    Yu, Tsung-Chih; Lo, Yu-Lung; Huang, Rei-Rong

    2010-09-27

    Two external-field-free methods are presented for measuring the azimuthal anchoring strength in twisted nematic liquid crystal (TNLC) cells. For asymmetrical TNLC samples, the twist angle is derived from the phase of the detected signal in a phase-sensitive heterodyne polarimeter and is then used to calculate the weak anchoring strength directly. The measurement resolution which is found to be about 0.01 μJ/m(2) makes the present method sensitive enough for the LC-based bio-sensing application. Using the proposed method, the weak azimuthal anchoring strength of a composite liquid crystal mixture (40% LCT-061153 + 60% MJO-42761) in contact with a plasma-alignment layer is found to be 7.19 μJ/m(2). For symmetrical TNLC samples, the liquid crystals are injected into a wedge cell, and the two-dimensional distributions of the twist angle and cell gap are extracted from the detected phase distribution using a genetic algorithm (GA). The azimuthal anchoring strength is then obtained by applying a fitting technique to the twist angle vs. cell gap curve. Utilizing the proposed approach, it is shown that the strong anchoring strength between a rubbed polyimide (PI) alignment layer and E7 liquid crystal is around 160 μJ/m(2) while that between a rubbed PI alignment layer and MLC-7023 liquid crystal is approximately 32 μJ/m(2). PMID:20941014

  9. ANCHORING EFFECT ANALYSIS OF TENSIONED BOLTS

    Institute of Scientific and Technical Information of China (English)

    夏建中

    1997-01-01

    The paper analyses quantitatively the anchoring effect of tensioned bolts on surrounding rock strength, and defines two concepts: one is the surrounding rock strength increased amount △τ13 and the other is the strength influence factor k. The anchoring effect of tensioned bolts is considered to increase a strength increased amount △τ13 where △τ13 is the product k and tensioned load p, i. e. △τ13= kp, where k is a function of two variables x and y. The distributive properties both △τ13 and k are also discussed in the paper, obtaining some useful results for designing bolting support parameters.

  10. Analysis of Cracking Mode of Anchor Structure of Underground Engineering Induced by Reinforcement Corrosion

    Directory of Open Access Journals (Sweden)

    Wantao Ding

    2014-02-01

    Full Text Available Based on elastic theory and assumption of maximum tensile-stress failure criterion, together with construction process of anchor structure and rust expansion critical process, this study proposed a simplified reinforcement rust expansion mechanical model of anchor structure system. Elastic criterion of different initial cracking mode was rewarded under different stress ratios. According to analysis of critical cracking mode of different medium, cracking order of mortar and surrounding rock depended on their material parameters, in-situ stress and thickness of mortar cover. Critical cracking conditions of different medium without effect of in-situ stress was the same as that of considering in-situ stress while k is equal to 3 or 1/3. And engineering example shows that three different cracking modes exist under different stress ratios. The result provides a useful reference for analysis of mechanical deterioration mechanism of anchor structure and design of support structure of underground engineering.

  11. Genetics Home Reference: Carpenter syndrome

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    ... two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect ... is often required for an accurate diagnosis. Related Information What does it mean if a disorder seems ...

  12. Genetics Home Reference: CHARGE syndrome

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    ... right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. Related Information What does it mean if a disorder seems ...

  13. Genetics Home Reference: Poland syndrome

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    ... not be evident until puberty, when the differences (asymmetry) between the two sides of the chest become ... of Poland syndrome or a different disorder. Related Information What does it mean if a disorder seems ...

  14. Genetics Home Reference: craniofacial microsomia

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    ... right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides ... to have Goldenhar syndrome or oculoauricular dysplasia. Related Information What does it mean if a disorder seems ...

  15. Genetics Home Reference: Horner syndrome

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    ... of congenital Horner syndrome result from damage to nerves called the cervical sympathetics. These nerves belong to the part of ... is under the control of the cervical sympathetic nerves. Damage to the cervical sympathetic nerves can be caused by a direct ...

  16. Genetics Home Reference: prostate cancer

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    ... 2012 Dec;110(11 Pt C):E809-18. doi: 10.1111/j.1464-410X.2012.11450.x. ... Eur Urol. 2013 Oct;64(4):567-76. doi: 10.1016/j.eururo.2013.05.029. Epub ... Oncol. 2014 Jan;32(1):53.e15-22. doi: 10.1016/j.urolonc.2013.08.025. Epub ...

  17. Genetics Home Reference: hidradenitis suppurativa

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    ... Apr;60(4):539-61; quiz 562-3. doi: 10.1016/j.jaad.2008.11.911. Review. ... Acad Dermatol. 2009 Jul;61(1):51-7. doi: 10.1016/j.jaad.2009.02.013. Epub ... Dermatol Clin. 2010 Oct;28(4):779-93. doi: 10.1016/j.det.2010.07.003. Review. ...

  18. Genetics Home Reference: Nager syndrome

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    ... The pharyngeal arches are five paired structures that form on each side of the head and neck ... cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why ... K, Hukki J, Arte S, Hurmerinta K. Craniofacial structures and dental development in three patients with Nager syndrome. J ...

  19. Genetics Home Reference: essential thrombocythemia

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    ... 2013 Dec 10. Majka M, Ratajczak J, Villaire G, Kubiczek K, Marquez LA, Janowska-Wieczorek A, Ratajczak MZ. Thrombopoietin, but not cytokines binding to gp130 protein-coupled receptors, activates MAPKp42/44, AKT, and STAT proteins in ...

  20. Genetics Home Reference: lung cancer

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    ... on PubMed (1 link) PubMed OMIM (1 link) LUNG CANCER Sources for This Page Berger AH, Imielinski M, Duke F, Wala J, Kaplan N, Shi GX, Andres DA, Meyerson M. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene. 2014 Aug 28;33(35):4418- ...

  1. Genetics Home Reference: nonsyndromic holoprosencephaly

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    ... the disorder is unknown in these individuals. The brain normally divides into right and left hemispheres during the third to fourth week of ... signaling proteins, which instruct the cells within the brain to form the right and left hemispheres. Signaling proteins are also important for the ...

  2. Genetics Home Reference: Miyoshi myopathy

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    ... phenotype variability in muscular dystrophy caused by ANO5. Neurology. 2012 Mar 20;78(12):897-903. doi: ... WNL.0b013e31824c4682. Epub 2012 Mar 7. Erratum in: Neurology. 2013 Jan 8;80(2):226. Takahashi T, ...

  3. Genetics Home Reference: Marfan syndrome

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    ... Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels ... Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey ...

  4. Genetics Home Reference: allergic asthma

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    ... another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of ... the Symptoms of an Allergy? Centers for Disease Control and Prevention Disease InfoSearch: Asthma Johns Hopkins Medicine: ...

  5. Genetics Home Reference: transthyretin amyloidosis

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    ... and weakness in the hands and fingers. The leptomeningeal form of transthyretin amyloidosis primarily affects the central ... neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are ...

  6. Genetics Home Reference: periventricular heterotopia

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    ... that cannot perform this function, disrupting the normal migration patterns of neurons during brain development. Periventricular heterotopia ... cell. Vesicle trafficking is important in controlling the migration of neurons during the development of the brain. ...

  7. Genetics Home Reference: Pompe disease

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    ... M, Yong F, Corzo D; Infantile-Onset Pompe Disease Natural History Study Group. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148(5):671-676. ...

  8. Genetics Home Reference: oculocutaneous albinism

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    ... make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems ... oculocutaneous albinism type 2. This gene helps regulate melanin production ... however, they typically have red hair instead of the usual yellow, blond, or light ...

  9. Genetics Home Reference: Tietz syndrome

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    ... cells, this protein controls production of the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found ... the inner ear leads to hearing loss. Decreased melanin production ... light skin and hair color and the retinal pigment epithelium changes that ...

  10. Genetics Home Reference: Crohn disease

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    ... McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium, Cardon L, Mathew CG. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to ...

  11. Genetics Home Reference: Mabry syndrome

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    ... 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Citation on PubMed ... 2010 Mar-Apr;53(2):85-8. doi: 10.1016/j.ejmg.2010.01.002. Epub 2010 Jan ... 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun ...

  12. Genetics Home Reference: Perrault syndrome

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    ... 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar ... 2013 Apr 4;92(4):614-20. doi: 10.1016/j.ajhg.2013.03.007. Epub 2013 Mar ... 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub 2010 Jul ...

  13. Genetics Home Reference: familial erythrocytosis

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    ... instructions for making a protein known as the erythropoietin receptor, which is found on the surface of certain blood-forming cells in the bone marrow. Erythropoietin is a hormone that directs the production of ...

  14. Genetics Home Reference: bladder cancer

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    ... ND, Rubenstein JN, Eggener SE, Kozlowski JM. The p53 tumor suppressor gene and nuclear protein: basic science review and relevance in the management of bladder cancer. J Urol. 2003 Apr;169(4):1219-28. ...

  15. Genetics Home Reference: Kallmann syndrome

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    ... PROK2 genes also play a role in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones ...

  16. Genetics Home Reference: spina bifida

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    ... close completely during the first few weeks of embryonic development. As a result, when the spine forms, the ... called vitamin B9). A shortage (deficiency) of this vitamin is an established ... involved in the development of the neural tube have also been studied ...

  17. Genetics Home Reference: Barth syndrome

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    ... becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers ... of the muscle and impairs its ability to pump blood. In people with Barth syndrome , the heart problems ...

  18. Genetics Home Reference: dentinogenesis imperfecta

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    ... type II Dentinogenesis imperfecta - Shield's type III Scientific articles on PubMed (1 link) PubMed OMIM (3 links) DENTIN DYSPLASIA, TYPE II DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA, ...

  19. Genetics Home Reference: warfarin sensitivity

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    ... SA, Patel M, Martis S, Lubitz SA, van der Zee S, Yoo C, Edelmann L, Halperin JL, Desnick RJ. ... or Free article on PubMed Central van der Zee SA, Halperin JL. Anticoagulant therapy: warfarin sensitivity genotyping ...

  20. Genetics Home Reference: Laron syndrome

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    ... in my area? Other Names for This Condition GH-R deficiency growth hormone insensitivity syndrome growth hormone receptor defect growth hormone ... Laron-type short stature pituitary dwarfism II primary GH resistance primary growth hormone resistance severe GH insensitivity Related Information How are ...

  1. Genetics Home Reference: pseudoxanthoma elasticum

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    ... Terry P. Pseudoxanthoma elasticum 2004. J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. Review. ... inhibitor of matrix calcification in Pseudoxanthoma elasticum. J Dermatol Sci. 2014 Aug;75(2):109-20. doi: ...

  2. Genetics Home Reference: Schindler disease

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    ... N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. Citation ... in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub ...

  3. Genetics Home Reference: epidermolytic hyperkeratosis

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    ... Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994 Aug;130(8):1026-35. Citation on ... keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Jan;102(1):17-23. Citation on ...

  4. Genetics Home Reference: familial cylindromatosis

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    ... CYLD is essential for deubiquitinase activity. J Invest Dermatol. 2008 Mar;128(3):587-93. Epub 2007 ... trichoepithelioma: lack of genotype-phenotype correlation. J Invest Dermatol. 2005 May;124(5):919-20. Citation on ...

  5. Genetics Home Reference: Cole disease

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    ... disease: guttate hypopigmentation and punctate palmoplantar keratoderma. Arch Dermatol. 2009 Apr;145(4):495-7. doi: 10. ... punctate keratosis of the palms and soles. Pediatr Dermatol. 2002 Jul-Aug;19(4):302-6. Citation ...

  6. Genetics Home Reference: Vohwinkel syndrome

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    ... M. Inherited disorders of corneocyte proteins. Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. ... family and review of the literature. Br J Dermatol. 2006 Jan;154(1):167-71. Review. Citation ...

  7. Genetics Home Reference: harlequin ichthyosis

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    ... harlequin ichthyosis with moderate clinical severity. J Invest Dermatol. 2006 Jul;126(7):1518-23. Epub 2006 ... of severe congenital ichthyosis of the neonate. J Dermatol Sci. 1999 Sep;21(2):96-104. Review. ...

  8. Genetics Home Reference: Wagner syndrome

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    ... eye ( cataract ). Affected individuals may also experience nearsightedness ( myopia ), progressive night blindness, or a narrowing of their ... syndrome is a rare disorder, although its exact prevalence is unknown. Approximately 300 affected individuals have been ...

  9. Genetics Home Reference: malignant hyperthermia

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    ... on PubMed GeneReview: Malignant Hyperthermia Susceptibility Litman RS, Rosenberg H. Malignant hyperthermia: update on susceptibility testing. JAMA. ... 27(10):977-89. Review. Citation on PubMed Rosenberg H, Davis M, James D, Pollock N, Stowell ...

  10. Genetics Home Reference: epidermal nevus

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    ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ... Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations ...

  11. Genetics Home Reference: Blau syndrome

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    ... by playing several essential roles in the immune response, including inflammatory reactions. An inflammatory reaction occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate ...

  12. Genetics Home Reference: amelogenesis imperfecta

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    ... and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. Mutations in the ... area? Other Names for This Condition AI congenital enamel ... of Dental and Craniofacial Research Educational Resources (5 links) Disease ...

  13. Genetics Home Reference: familial hyperaldosteronism

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    ... glands are enlarged up to six times their normal size. These affected individuals have severe hypertension that starts in childhood. The hypertension is difficult to treat and often results in damage to organs such as the heart and kidneys. Rarely, individuals with type III have milder symptoms ...

  14. Genetics Home Reference: lamellar ichthyosis

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    ... Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu ... Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu ...

  15. Genetics Home Reference: ovarian cancer

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    ... that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, ... that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one ...

  16. Genetics Home Reference: Knobloch syndrome

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    ... Knobloch syndrome is a skull defect called an occipital encephalocele , which is a sac-like protrusion of ... the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with ...

  17. Genetics Home Reference: Menkes syndrome

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    ... In rare cases, symptoms begin later in childhood. Occipital horn syndrome (sometimes called X-linked cutis laxa ) ... bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints. ...

  18. Genetics Home Reference: cutis laxa

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    ... linked form of cutis laxa is often called occipital horn syndrome. This form of the disorder is ... body . In addition to sagging and inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium ...

  19. Genetics Home Reference: prion disease

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    ... as bovine spongiform encephalopathy (BSE) or, more commonly, "mad cow disease." Another example of an acquired human prion disease ... forms of prion disease , including kuru and variant Creutzfeldt-Jakob disease, are not inherited. Related Information What does it ...

  20. Genetics Home Reference: celiac disease

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    ... chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been ... North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide University of Chicago Celiac ...

  1. Genetics Home Reference: ulcerative colitis

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    ... my area? Other Names for This Condition colitis gravis idiopathic proctocolitis inflammatory bowel disease, ulcerative colitis type ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  2. Genetics Home Reference: neuromyelitis optica

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    ... symptoms of another autoimmune disorder such as myasthenia gravis , systemic lupus erythematosus , or Sjögren syndrome . Some scientists ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  3. Genetics Home Reference: Fabry disease

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    ... Foundation National Organization for Rare Disorders (NORD) National Tay-Sachs & Allied Diseases Association, ... Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry ...

  4. Genetics Home Reference: frontonasal dysplasia

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    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Palate Foundation FACES: The National Craniofacial Association National Organization for Rare Disorders ... PubMed OMIM (3 links) ...

  5. Genetics Home Reference: mycosis fungoides

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    ... Co-Pay Assistance Program Lymphoma Research Foundation National Organization for Rare Disorders ... JJ, Clark RA, Watanabe R, Kupper TS. Sezary syndrome and mycosis fungoides arise from distinct T-cell subsets: a biologic rationale for their distinct clinical ...

  6. Genetics Home Reference: primary hyperoxaluria

    Science.gov (United States)

    ... worldwide. Type 1 is the most common form, accounting for approximately 80 percent of cases. Types 2 ... III ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific articles on PubMed (1 link) PubMed OMIM (3 links) ...

  7. Genetics Home Reference: Fraser syndrome

    Science.gov (United States)

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome . ... syndrome ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  8. Genetics Home Reference: Timothy syndrome

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    ... and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of ... Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 ...

  9. Genetics Home Reference: surfactant dysfunction

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    ... and decreased surfactant function. The loss of functional surfactant raises surface tension in the alveoli, causing severe breathing problems. The combination of SP-B and SP-C dysfunction may explain why the signs and symptoms of SP-B deficiency ... dysfunction sometimes called SP-C dysfunction. These mutations ...

  10. Genetics Home Reference: tetrahydrobiopterin deficiency

    Science.gov (United States)

    ... condition also alters the levels of chemicals called neurotransmitters , which transmit signals between nerve cells in the ... It is also involved in the production of neurotransmitters . If one of the enzymes fails to function ...

  11. Genetics Home Reference: Moebius syndrome

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    ... may also be risk factors for Moebius syndrome . Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII . These nerves, which emerge from ...

  12. Genetics Home Reference: Lujan syndrome

    Science.gov (United States)

    ... Description Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and certain physical features. It occurs almost exclusively in males. The intellectual disability associated with Lujan syndrome is usually mild to ...

  13. Genetics Home Reference: renal hypouricemia

    Science.gov (United States)

    ... hypouricemia , they have an increased risk of developing kidney stones (nephrolithiasis) formed from uric acid crystals. These uric acid ... of the mutated gene will develop uric acid kidney stones. Related Information What does it mean if a ...

  14. Genetics Home Reference: RAPADILINO syndrome

    Science.gov (United States)

    ... 3 links) Health Topic: Bone Diseases Health Topic: Cleft Lip and Palate Health Topic: Hand Injuries and Disorders Additional NIH ... Anomaly MalaCards: rapadilino syndrome March of Dimes: Cleft Lip and Cleft Palate Orphanet: RAPADILINO syndrome Patient Support and Advocacy Resources ( ...

  15. Genetics Home Reference: oculodentodigital dysplasia

    Science.gov (United States)

    ... Webbing of the fingers or toes Health Topic: Cleft Lip and Palate Health Topic: Tooth Disorders Educational Resources (6 links) ... Dysplasia MalaCards: oculodentodigital dysplasia March of Dimes: Cleft Lip and Cleft ... Oculodentodigital dysplasia Washington University, St. Louis: Neuromuscular ...

  16. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Levin N, Andrade CA, Andreoli L, Chighizola CB, Porter TF, Salmon J, Silver RM, Tincani A, Branch DW. 14th International Congress on Antiphospholipid Antibodies Task Force report on obstetric antiphospholipid syndrome. Autoimmun Rev. 2014 ...

  17. Genetics Home Reference: Noonan syndrome

    Science.gov (United States)

    ... article on PubMed Central Rohrer T. Noonan syndrome: introduction and basic clinical features. Horm Res. 2009 Dec; ... Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA ...

  18. Genetics Home Reference: Larsen syndrome

    Science.gov (United States)

    ... with Larsen syndrome can survive into adulthood and intelligence is unaffected. Related Information What does it mean ... cartilage that continues to cover and protect the ends of bones and is present in the nose, ...

  19. Genetics Home Reference: Brugada syndrome

    Science.gov (United States)

    ... sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart's normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of ...

  20. Genetics Home Reference: Feingold syndrome

    Science.gov (United States)

    ... in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is ... to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of ...

  1. Genetics Home Reference: CHOPS syndrome

    Science.gov (United States)

    ... complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called ... reproductive cells (eggs or sperm) or in early embryonic development. Affected individuals have no history of the disorder ...

  2. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in ... the Notch signaling pathway, which is important in embryonic development. One of the functions of Notch signaling is ...

  3. Genetics Home Reference: Christianson syndrome

    Science.gov (United States)

    ... L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am ...

  4. Genetics Home Reference: methylmalonic acidemia

    Science.gov (United States)

    ... This enzyme works with vitamin B12 (also called cobalamin) to break down several protein building blocks ( amino ... of methylmalonic acidemia: Baby's First Test: Methylmalonic Acidemia (Cobalamin Disorders) Baby's First Test: Methylmalonic Acidemia (Methymalonyl-CoA ...

  5. Genetics Home Reference: multiple sclerosis

    Science.gov (United States)

    ... factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The HLA-DRB1 gene belongs ...

  6. Genetics Home Reference: biotinidase deficiency

    Science.gov (United States)

    ... the body is unable to recycle the vitamin biotin. If this condition is not recognized and treated, ... making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as ...

  7. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name ... channel . The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. ...

  8. Genetics Home Reference: Hirschsprung disease

    Science.gov (United States)

    ... not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood. Enteric nerves trigger the muscle contractions that move ...

  9. Genetics Home Reference: Cohen syndrome

    Science.gov (United States)

    ... muscle tone (hypotonia). Other features include progressive nearsightedness ( myopia ), degeneration of the light-sensitive tissue at the ... and Rare Diseases Information Center Frequency The exact incidence of Cohen syndrome is unknown. It has been ...

  10. Genetics Home Reference: cerebrotendinous xanthomatosis

    Science.gov (United States)

    ... down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27- ... WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover, and tissue deposition. J Lipid Res. 2007 ...

  11. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision ... can be caused by mutations in several different genes. Mutations in at least six genes can cause ...

  12. Genetics Home Reference: Myhre syndrome

    Science.gov (United States)

    ... of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth ...

  13. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in ...

  14. Genetics Home Reference: Tourette syndrome

    Science.gov (United States)

    ... Tourette syndrome is a complex disorder characterized by repetitive, sudden, and involuntary movements or noises called tics. Tics usually appear in ... involves both motor tics, which are uncontrolled body movements, and vocal or ... blinking, shoulder shrugging, or nose twitching, are usually the first ...

  15. Genetics Home Reference: vibratory urticaria

    Science.gov (United States)

    ... Torsten]. Citation on PubMed Aloyouny A, Stoopler ET. Vibrational angioedema: considerations for oral health care providers. Spec ... Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 ...

  16. Genetics Home Reference: KBG syndrome

    Science.gov (United States)

    ... are shorter than average from birth. Development of mental and movement abilities is also delayed in KBG syndrome . Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Some people with this ...

  17. Genetics Home Reference: prolidase deficiency

    Science.gov (United States)

    ... on PubMed Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Inborn errors of proline metabolism. J Nutr. 2008 Oct;138(10):2016S-2020S. Citation on PubMed Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, ...

  18. Genetics Home Reference: Asperger syndrome

    Science.gov (United States)

    ... This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might ...

  19. Genetics Home Reference: Danon disease

    Science.gov (United States)

    ... found in the membrane of cellular structures called lysosomes . Lysosomes are compartments in the cell that digest and ... role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 ...

  20. Genetics Home Reference: Lynch syndrome

    Science.gov (United States)

    ... in preparation for cell division (a process called DNA replication ). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, ...