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Sample records for links home referring

  1. Genetics Home Reference: X-linked thrombocytopenia

    ... Benson EM. Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

  2. Genetics Home Reference: X-linked creatine deficiency

    ... Health Conditions X-linked creatine deficiency X-linked creatine deficiency Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description X-linked creatine deficiency is an inherited disorder that primarily affects ...

  3. Genetics Home Reference: X-linked sideroblastic anemia

    ... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

  4. Genetics Home Reference: X-linked sideroblastic anemia and ataxia

    ... linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open All Close All ... the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare condition characterized by ...

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

    ... Cleft Lip and Palate MalaCards: x-linked intellectual disability, siderius type March of Dimes: Cleft Lip and Cleft Palate Merck Manual Consumer Version: Intellectual Disability Orphanet: X-linked intellectual disability, Siderius type Patient ...

  6. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  7. Genetics Home Reference: X-linked dilated cardiomyopathy

    ... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

  8. Genetics Home Reference: X-linked congenital stationary night blindness

    ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

  9. Genetics Home Reference: X-linked juvenile retinoschisis

    ... in a decrease in or complete loss of functional retinoschisin, which disrupts the maintenance and organization of ... sides of the retina, resulting in impaired peripheral vision. Some individuals with X-linked juvenile retinoschisis do ...

  10. Genetics Home Reference: X-linked severe combined immunodeficiency

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  11. Genetics Home Reference: X-linked lymphoproliferative disease

    ... my area? Other Names for This Condition Duncan disease Epstein-Barr virus-induced lymphoproliferative disease in males familial fatal ... the proapoptotic SAP function in X-linked lymphoproliferative disease aggravates Epstein-Barr virus (EBV) induced mononucleosis and promotes lymphoma development. ...

  12. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    ... Alpha thalassemia X-linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open ... to view the expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited ...

  13. Genetics Home Reference

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  14. Genetics Home Reference: PURA syndrome

    ... TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets ... article on PubMed Central More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  15. Genetics Home Reference: hypochondroplasia

    ... the elbows, a sway of the lower back ( lordosis ), and bowed legs. These signs are generally less ... Management Resources (2 links) GeneReview: Hypochondroplasia MedlinePlus Encyclopedia: Lordosis General Information from MedlinePlus (5 links) Diagnostic Tests ...

  16. Genetics Home Reference: porphyria

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... PubMed Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005; ...

  17. Genetics Home Reference: osteopetrosis

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  18. Genetics Home Reference: hypophosphatasia

    ... by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and ... Management Resources (2 links) GeneReview: Hypophosphatasia MedlinePlus Encyclopedia: Osteomalacia General Information from MedlinePlus (5 links) Diagnostic Tests ...

  19. Genetics Home Reference: achondroplasia

    ... Share: Email Facebook Twitter Home Health Conditions Achondroplasia Achondroplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Achondroplasia is a form of short-limbed dwarfism. The ...

  20. Genetics Home Reference: phenylketonuria

    ... Share: Email Facebook Twitter Home Health Conditions Phenylketonuria Phenylketonuria Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Phenylketonuria (commonly known as PKU) is an inherited disorder ...

  1. Genetics Home Reference: schizophrenia

    ... Share: Email Facebook Twitter Home Health Conditions Schizophrenia Schizophrenia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Schizophrenia is a brain disorder classified as a psychosis, ...

  2. Genetics Home Reference: depression

    ... Share: Email Facebook Twitter Home Health Conditions Depression Depression Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Depression (also known as major depression or major depressive ...

  3. Genetics Home Reference: alkaptonuria

    ... Share: Email Facebook Twitter Home Health Conditions Alkaptonuria Alkaptonuria Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alkaptonuria is an inherited condition that causes urine to ...

  4. Genetics Home Reference: preeclampsia

    ... Share: Email Facebook Twitter Home Health Conditions Preeclampsia Preeclampsia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Preeclampsia is a complication of pregnancy in which affected ...

  5. Genetics Home Reference: lung cancer

    ... Share: Email Facebook Twitter Home Health Conditions Lung cancer Lung cancer Printable PDF Open All Close All Enable Javascript ... cancer, childhood Additional NIH Resources (3 links) National Cancer Institute: Lung Cancer Overview National Cancer Institute: Lung Cancer Prevention ...

  6. Genetics Home Reference: sialuria

    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  7. Genetics Home Reference: adermatoglyphia

    ... a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/ ... and Advocacy Resources (2 links) National Foundation for Ectodermal Dysplasias Resource List from the University of Kansas Medical ...

  8. Genetics Home Reference: SADDAN

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  9. Genetics Home Reference: hypochondrogenesis

    ... Achondrogenesis Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Additional NIH Resources (1 link) National Institute of ... T, Nishimura G, Watanabe H, Arisaka O. Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. ...

  10. Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

    ... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

  11. Genetics Home Reference: glutaric acidemia type I

    ... Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ... 825-8. Review. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  12. Genetics Home Reference: Blau syndrome

    ... and Advocacy Resources (3 links) Autoinflammatory Alliance Ocular Immunology and Uveitis Foundation Stop Childhood Auto Inflammatory Diseases (CAID) Now Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  13. Genetics Home Reference: osteoglophonic dysplasia

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  14. Genetics Home Reference: Moebius syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (5 links) Children's Craniofacial Association: A Guide to Understanding Moebius Syndrome ( ...

  15. Genetics Home Reference: congenital hyperinsulinism

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  16. Genetics Home Reference: geleophysic dysplasia

    ... my area? Other Names for This Condition geleophysic dwarfism Related Information How are genetic conditions and genes ... and Rare Diseases Information Center (1 link) Geleophysic dwarfism Educational Resources (8 links) American Heart Association: Atrial ...

  17. Genetics Home Reference: diastrophic dysplasia

    ... my area? Other Names for This Condition Diastrophic dwarfism DTD Related Information How are genetic conditions and ... 2 links) Health Topic: Bone Diseases Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  18. Genetics Home Reference: retinitis pigmentosa

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008; ...

  19. Genetics Home Reference: Alport syndrome

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... is characterized by hematuria. Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People ...

  20. Genetics Home Reference: Cockayne syndrome

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  1. Genetics Home Reference: Pfeiffer syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (7 links) Boston Children's Hospital Cincinnati Children's Hospital Medical Center: Craniosynostosis Collaboration ...

  2. Genetics Home Reference: Crouzon syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (7 links) Boston Children's Hospital Collaboration for Craniofacial Development and Disorders, Johns ...

  3. Genetics Home Reference: Apert syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (9 links) Boston Children's Hospital Collaboration for Craniofacial Development and Disorders, Johns ...

  4. Genetics Home Reference: bladder cancer

    ... Testing Registry: Malignant tumor of urinary bladder Other Diagnosis and Management Resources (1 link) MedlinePlus Encyclopedia: Bladder Cancer General Information from MedlinePlus (5 links) Diagnostic Tests ...

  5. Genetics Home Reference: Peters anomaly

    ... Disease Patient Support and Advocacy Resources (3 links) Children's Eye Foundation Contact a Family Resource List from the University of Kansas Medical Center: Blind/Visual Impairment ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles ...

  6. Genetics Home Reference: Parkinson disease

    ... Email Facebook Twitter Home Health Conditions Parkinson disease Parkinson disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Parkinson disease is a progressive disorder of the nervous ...

  7. Genetics Home Reference: Waardenburg syndrome

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  8. Genetics Home Reference: Cole disease

    ... Email Facebook Twitter Home Health Conditions Cole disease Cole disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Cole disease is a disorder that affects the skin. People ...

  9. Genetics Home Reference: boomerang dysplasia

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  10. Genetics Home Reference: hereditary pancreatitis

    ... Facebook Twitter Home Health Conditions Hereditary pancreatitis Hereditary pancreatitis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hereditary pancreatitis is a genetic condition characterized by recurrent episodes ...

  11. Genetics Home Reference: bipolar disorder

    ... Email Facebook Twitter Home Health Conditions Bipolar disorder Bipolar disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bipolar disorder is a mental health condition that causes extreme ...

  12. Genetics Home Reference: rheumatoid arthritis

    ... Share: Email Facebook Twitter Home Health Conditions Rheumatoid arthritis Rheumatoid arthritis Printable PDF Open All Close All Enable ... in my area? Other Names for This Condition arthritis, rheumatoid RA Related Information How are genetic conditions and ...

  13. Genetics Home Reference: clopidogrel resistance

    ... Facebook Twitter Home Health Conditions Clopidogrel resistance Clopidogrel resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Clopidogrel resistance is a condition in which the drug clopidogrel ...

  14. Genetics Home Reference: familial candidiasis

    ... Facebook Twitter Home Health Conditions Familial candidiasis Familial candidiasis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial candidiasis is an inherited tendency to develop infections caused ...

  15. Genetics Home Reference: Turner syndrome

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  16. Genetics Home Reference: essential tremor

    ... Facebook Twitter Home Health Conditions Essential tremor Essential tremor Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Essential tremor is a movement disorder that causes involuntary, rhythmic ...

  17. Genetics Home Reference: gestational diabetes

    ... Email Facebook Twitter Home Health Conditions Gestational diabetes Gestational diabetes Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Gestational diabetes is a disorder characterized by abnormally high blood ...

  18. Genetics Home Reference: beta thalassemia

    ... Facebook Twitter Home Health Conditions Beta thalassemia Beta thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Beta thalassemia is a blood disorder that reduces the production ...

  19. Genetics Home Reference: alpha thalassemia

    ... Facebook Twitter Home Health Conditions Alpha thalassemia Alpha thalassemia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alpha thalassemia is a blood disorder that reduces the production ...

  20. Genetics Home Reference: antiphospholipid syndrome

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  1. Genetics Home Reference: opioid addiction

    ... Facebook Twitter Home Health Conditions Opioid addiction Opioid addiction Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Opioid addiction is a long-lasting (chronic) disease that can ...

  2. Genetics Home Reference: systemic scleroderma

    ... Facebook Twitter Home Health Conditions Systemic scleroderma Systemic scleroderma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic scleroderma is an autoimmune disorder that affects the skin ...

  3. Genetics Home Reference: polycythemia vera

    ... Email Facebook Twitter Home Health Conditions Polycythemia vera Polycythemia vera Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Polycythemia vera is a condition characterized by an increased ...

  4. Genetics Home Reference: Usher syndrome

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  5. Genetics Home Reference: Alzheimer disease

    ... Email Facebook Twitter Home Health Conditions Alzheimer disease Alzheimer disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Alzheimer disease is a degenerative disease of the brain ...

  6. Genetics Home Reference: myasthenia gravis

    ... increase the risk of myasthenia gravis , but the identity of these genes is unknown. Many factors likely ... Myasthenia Gravis Fact Sheet MalaCards: myasthenia gravis Merck Manual Home Health Handbook for Patients and Caregivers Myasthenia ...

  7. Genetics Home Reference: congenital hypothyroidism

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  8. Genetics Home Reference: breast cancer

    ... Email Facebook Twitter Home Health Conditions Breast cancer Breast cancer Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Breast cancer is a disease in which certain cells in ...

  9. Genetics Home Reference: Norrie disease

    ... Email Facebook Twitter Home Health Conditions Norrie disease Norrie disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Norrie disease is an inherited eye disorder that leads to ...

  10. Genetics Home Reference: Bartter syndrome

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  11. Genetics Home Reference: Hashimoto thyroiditis

    ... Facebook Twitter Home Health Conditions Hashimoto thyroiditis Hashimoto thyroiditis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Hashimoto thyroiditis is a condition that affects the function of ...

  12. Genetics Home Reference: warfarin sensitivity

    ... Email Facebook Twitter Home Health Conditions Warfarin sensitivity Warfarin sensitivity Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Warfarin sensitivity is a condition in which individuals have ...

  13. Genetics Home Reference: warfarin resistance

    ... Email Facebook Twitter Home Health Conditions Warfarin resistance Warfarin resistance Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Warfarin resistance is a condition in which individuals have ...

  14. Genetics Home Reference: amelogenesis imperfecta

    ... Email Facebook Twitter Home Health Conditions Amelogenesis imperfecta Amelogenesis imperfecta Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Amelogenesis imperfecta is a disorder of tooth development. This ...

  15. Genetics Home Reference: Graves disease

    ... Email Facebook Twitter Home Health Conditions Graves disease Graves disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Graves disease is a condition that affects the function of ...

  16. Genetics Home Reference: allergic asthma

    ... links) Health Topic: Allergy Health Topic: Asthma Health Topic: Asthma in Children Additional NIH Resources (1 link) National Heart, Lung, and Blood Institute Educational Resources (12 links) American Academy of Allergy Asthma and Immunology: Allergies Asthma and Allergy Foundation of America: What ...

  17. Genetics Home Reference: motion sickness

    ... motion, particularly traveling in a car, bus, train, airplane, or boat. Amusement park rides, skiing, and virtual ... Association ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  18. Genetics Home Reference: Kabuki syndrome

    ... also have seizures, an unusually small head size ( microcephaly ), or weak muscle tone (hypotonia). Some have eye ... Syndrome ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (2 links) ...

  19. Genetics Home Reference: myotonia congenita

    ... Manual Consumer Version: Congenital Myopathies Orphanet: Thomsen and Becker disease Patient Support and Advocacy Resources (3 links) Muscular Dystrophy Association National Organization for Rare Disorders (NORD) Resource ...

  20. Genetics Home Reference: Miyoshi myopathy

    ... links) Centers for Disease Control and Prevention: Muscular Dystrophy Cincinnati Children's Hospital: Molkentin Lab: Mechanisms of Duchenne and Miyoshi Myopathy Disease InfoSearch: Miyoshi myopathy Jain ...

  1. Genetics Home Reference: cerebrotendinous xanthomatosis

    ... links) National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Information Page Rare Diseases Clinical Research Network: Sterol & Isopernoid Research Consortium Educational Resources (5 ...

  2. Genetics Home Reference: periventricular heterotopia

    ... of the two sex chromosomes . The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ...

  3. Genetics Home Reference: dyskeratosis congenita

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one ...

  4. Genetics Home Reference: Rett syndrome

    ... Genetic Testing Registry: Rett syndrome Other Diagnosis and Management Resources (4 links) Boston Children's Hospital GeneReview: MECP2-Related Disorders MedlinePlus Encyclopedia: Rett Syndrome RettSyndrome.org: Rett Syndrome Clinics General Information from MedlinePlus (5 links) Diagnostic Tests ...

  5. Genetics Home Reference: Marfan syndrome

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  6. Genetics Home Reference: UV-sensitive syndrome

    ... rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can ... Resources (2 links) Merck Manual Home Health Edition: Sunburn World Health Organization: Sun Protection General Information from ...

  7. Genetics Home Reference: atopic dermatitis

    ... adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Consumer Version The University of Chicago Medicine World ...

  8. Genetics Home Reference: Netherton syndrome

    ... skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013 Feb;351(2):289- ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  9. Genetics Home Reference: Kleefstra syndrome

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...

  10. Genetics Home Reference: Williams syndrome

    ... do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals ... Resources (5 links) Disease InfoSearch: Williams syndrome Genetic Science Learning Center, University of Utah MalaCards: williams-beuren ...

  11. Genetics Home Reference: spondylothoracic dysostosis

    ... normal-length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities, which are present ... Additional Information & Resources MedlinePlus (2 links) Health Topic: Dwarfism Health Topic: Spine Injuries and Disorders Genetic and ...

  12. Genetics Home Reference: argininosuccinic aciduria

    ... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... and potential links to arginine and nitric oxide metabolism. J Nutr. 2004 Oct;134(10 Suppl):2775S- ...

  13. Genetics Home Reference: Carney complex

    ... cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face ... Institute of Diabetes and Digestive and Kidney Diseases: Cushing's Syndrome Educational Resources (6 links) Disease InfoSearch: Carney Complex ...

  14. Genetics Home Reference: multiple sclerosis

    ... closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 ... personal health condition should consult with a qualified healthcare professional . About Selection Criteria for Links Data Files & ...

  15. Genetics Home Reference: Fabry disease

    ... Stroke: Fabry's Disease Information Page National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet Educational Resources (8 links) Children Living With Inherited Metabolic Diseases (CLIMB) (UK): Fabry ...

  16. Genetics Home Reference: Knobloch syndrome

    ... Institute: Facts About Retinal Detachment National Institute of Neurological Disorders and Stroke: Encephaloceles Educational Resources (6 links) Boston Children's Hospital: Retinal Disorders Q&A Disease InfoSearch: Knobloch ...

  17. Genetics Home Reference: Hirschsprung disease

    ... occur in combination with other conditions, such as Waardenburg syndrome , type IV; Mowat-Wilson syndrome ; or congenital central ... Disease MalaCards: hirschsprung disease 1 Orphanet: Hirschsprung disease Patient Support and Advocacy Resources (4 links) Bowel Group ...

  18. Genetics Home Reference: Farber lipogranulomatosis

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  19. Genetics Home Reference: ulcerative colitis

    ... are some genetic conditions more common in particular ethnic groups? Genetic Changes A variety of genetic and environmental factors are likely involved in the development of ulcerative colitis . Recent studies have identified variations in dozens of genes that may be linked ...

  20. Genetics Home Reference: arginase deficiency

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... links) Baby's First Test GeneReview: Arginase Deficiency GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary urea cycle abnormality National ...

  1. Genetics Home Reference: Gorlin syndrome

    ... for This Condition basal cell nevus syndrome BCNS Gorlin-Goltz syndrome NBCCS nevoid basal cell carcinoma syndrome Related Information ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Basal Cell Nevus Syndrome Health Topic: Skin Cancer Genetic and Rare Diseases ...

  2. Genetics Home Reference: Perry syndrome

    ... Advocacy Resources (5 links) American Parkinson Disease Association Michael J. Fox Foundation for Parkinson's Research National Alliance on ... Apr;20(4):388-93. doi: 10.1016/j.parkreldis.2014.01.010. Epub 2014 Jan 22. ... C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in ...

  3. Genetics Home Reference: Tourette syndrome

    ... and Vocal Tic Disorder Gilles de la Tourette Syndrome Gilles de la Tourette's syndrome GTS TD Tourette Disorder Tourette's Disease TS Related ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Gilles de la Tourette syndrome Health Topic: Tourette Syndrome Genetic and Rare Diseases ...

  4. Genetics Home Reference: alcohol use disorder

    ... use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others ... Available from http://www.ncbi.nlm.nih.gov/books/NBK424857/ Citation on PubMed Zhu EC, Soundy TJ, ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  5. Genetics Home Reference: nonsyndromic hearing loss

    ... Centre for Genetics Education (Australia) Disease InfoSearch: Deafness Harvard Medical School Center for Hereditary Deafness Hereditary Hearing ... Available from http://www.ncbi.nlm.nih.gov/books/NBK1434/ Citation on ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  6. Genetics Home Reference: X-linked agammaglobulinemia

    ... 5 [updated 2016 Aug 4]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Genetics Home Reference: X-linked adrenoleukodystrophy

    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  8. Genetics Home Reference: X-linked acrogigantism

    ... that is caused by pituitary gland abnormalities (pituitary gigantism). Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  9. Genetics Home Reference: benign familial neonatal seizures

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Epilepsy Educational Resources (7 links) Boston Children's Hospital: My Child Has...Seizures and Epilepsy Centers ...

  10. Genetics Home Reference: Klippel-Trenaunay syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (6 links) Cincinnati Children's Hospital Medical Center: Capillary Lymphatic Venous Malformation Disease ...

  11. Genetics Home Reference: cerebral cavernous malformation

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

  12. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... EDARADD gene. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD ...

  13. Genetics Home Reference: Aarskog-Scott syndrome

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Evidence suggests that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although ...

  14. Genetics Home Reference: severe congenital neutropenia

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  15. Genetics Home Reference: hereditary hypophosphatemic rickets

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... families, hereditary hypophosphatemic rickets has had an autosomal dominant inheritance pattern, which means one copy of an ...

  16. Genetics Home Reference: Manitoba oculotrichoanal syndrome

    ... opening in the wall of the abdomen (an omphalocele ) that allows the abdominal organs to protrude through ... 2 links) GeneReview: Manitoba Oculotrichoanal Syndrome MedlinePlus Encyclopedia: Omphalocele Repair General Information from MedlinePlus (5 links) Diagnostic ...

  17. Genetics Home Reference: adult polyglucosan body disease

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Spasticity Information Page Educational Resources (6 links) Boston Children's Hospital: Neurogenic Bladder Disease InfoSearch: Polyglucosan body disease, ...

  18. Genetics Home Reference: Bohring-Opitz syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (9 links) Boston Children's Hospital: Metopic Synostosis (Trigonocephaly) Symptoms & Causes Centers for ...

  19. Genetics Home Reference: Saethre-Chotzen syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Craniosynostosis Information Page Educational Resources (6 links) Boston Children's Hospital Disease InfoSearch: Saethre-Chotzen syndrome Johns Hopkins ...

  20. Genetics Home Reference: succinic semialdehyde dehydrogenase deficiency

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Epilepsy Information Page Educational Resources (5 links) Boston Children's Hospital: Seizures and Epilepsy Disease InfoSearch: Succinic semialdehyde ...

  1. Genetics Home Reference: Meier-Gorlin syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (10 links) Boston Children's Hospital: Growth Problems Disease InfoSearch: Meier-Gorlin syndrome ...

  2. Genetics Home Reference: complement component 2 deficiency

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  3. Genetics Home Reference: autosomal dominant vitreoretinochoroidopathy

    ... Vitreoretinochoroidopathy Patient Support and Advocacy Resources (2 links) Foundation Fighting Blindness Prevent Blindness: Living Well with Low Vision Scientific Articles on PubMed (1 link) PubMed OMIM ( ...

  4. Genetics Home Reference: isolated sulfite oxidase deficiency

    ... and Management Resources (1 link) GeneReview: Isolated Sulfite Oxidase Deficiency General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  5. Genetics Home Reference: thrombotic thrombocytopenic purpura

    ... Home Health Conditions Thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots ( ...

  6. Genetics Home Reference: autism spectrum disorder

    ... Share: Email Facebook Twitter Home Health Conditions ASD Autism spectrum disorder Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Autism spectrum disorder ( ASD ) is a condition that appears very early ...

  7. Genetics Home Reference: factor VII deficiency

    ... Facebook Twitter Home Health Conditions Factor VII deficiency Factor VII deficiency Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Factor VII deficiency is a rare bleeding disorder that varies ...

  8. Genetics Home Reference: systemic lupus erythematosus

    ... Twitter Home Health Conditions Systemic lupus erythematosus Systemic lupus erythematosus Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation ...

  9. Genetics Home Reference: white sponge nevus

    ... Twitter Home Health Conditions White sponge nevus White sponge nevus Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description White sponge nevus is a condition characterized by the formation ...

  10. Genetics Home Reference: Dandy-Walker malformation

    ... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

  11. Genetics Home Reference: SOX2 anophthalmia syndrome

    ... Twitter Home Health Conditions SOX2 anophthalmia syndrome SOX2 anophthalmia syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal ...

  12. Genetics Home Reference: pyridoxine-dependent epilepsy

    ... Home Health Conditions Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in ...

  13. Genetics Home Reference: familial atrial fibrillation

    ... Twitter Home Health Conditions Familial atrial fibrillation Familial atrial fibrillation Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial atrial fibrillation is an inherited abnormality of the heart's normal ...

  14. Genetics Home Reference: CDKL5 deficiency disorder

    ... Facebook Twitter Home Health Conditions CDKL5 deficiency disorder CDKL5 deficiency disorder Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description CDKL5 deficiency disorder is characterized by seizures that begin ...

  15. Genetics Home Reference: hereditary fructose intolerance

    ... Twitter Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ...

  16. Genetics Home Reference: adolescent idiopathic scoliosis

    ... Facebook Twitter Home Health Conditions Adolescent idiopathic scoliosis Adolescent idiopathic scoliosis Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Adolescent idiopathic scoliosis is an abnormal curvature of the ...

  17. Genetics Home Reference: primary spontaneous pneumothorax

    ... Home Health Conditions Primary spontaneous pneumothorax Primary spontaneous pneumothorax Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Primary spontaneous pneumothorax is an abnormal accumulation of air in the ...

  18. Genetics Home Reference: generalized pustular psoriasis

    ... Home Health Conditions Generalized pustular psoriasis Generalized pustular psoriasis Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Generalized pustular psoriasis (GPP) is a severe form of a skin ...

  19. Genetics Home Reference: erythrokeratodermia variabilis et progressiva

    ... Facebook Twitter Home Health Conditions EKVP Erythrokeratodermia variabilis et progressiva Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Erythrokeratodermia variabilis et progressiva ( EKVP ) is a skin disorder that is ...

  20. Genetics Home Reference: sporadic hemiplegic migraine

    ... Home Health Conditions Sporadic hemiplegic migraine Sporadic hemiplegic migraine Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines ...

  1. Genetics Home Reference: Coffin-Siris syndrome

    ... Facebook Twitter Home Health Conditions Coffin-Siris syndrome Coffin-Siris syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Coffin-Siris syndrome is a condition that affects several body ...

  2. Genetics Home Reference: tyrosine hydroxylase deficiency

    ... Email Facebook Twitter Home Health Conditions TH deficiency Tyrosine hydroxylase deficiency Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description Tyrosine hydroxylase (TH) deficiency is a disorder that primarily ...

  3. Genetics Home Reference: primary macronodular adrenal hyperplasia

    ... Support and Research Foundation: Genetic Changes Found in Cushing's Disease, Adrenal Tumors, and Adrenal Hyperplasia MalaCards: acth-independent ... macronodular adrenal hyperplasia 2 Merck Manual (Home Edition): Cushing ... Adrenal Diseases Foundation: Cushing's Syndrome Orphanet: Cushing syndrome due to ...

  4. Genetics Home Reference: Diamond-Blackfan anemia

    ... Home Health Conditions Diamond-Blackfan anemia Diamond-Blackfan anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Diamond-Blackfan anemia is a disorder of the bone marrow . The ...

  5. Genetics Home Reference: congenital dyserythropoietic anemia

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

  6. Genetics Home Reference: pulmonary arterial hypertension

    ... Home Health Conditions Pulmonary arterial hypertension Pulmonary arterial hypertension Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high ...

  7. Genetics Home Reference: acral peeling skin syndrome

    ... Home Health Conditions Acral peeling skin syndrome Acral peeling skin syndrome Printable PDF Open All Close All ... to view the expand/collapse boxes. Description Acral peeling skin syndrome is a skin disorder characterized by ...

  8. Genetics Home Reference: fragile X syndrome

    ... Facebook Twitter Home Health Conditions Fragile X syndrome Fragile X syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Fragile X syndrome is a genetic condition that causes a ...

  9. Genetics Home Reference: familial exudative vitreoretinopathy

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Resources (2 links) GeneReview: Familial Exudative Vitreoretinopathy, Autosomal Dominant GeneReview: NDP-Related Retinopathies General Information from MedlinePlus ( ...

  10. Genetics Home Reference: multiple pterygium syndrome

    ... cleft palate ); and an unusually small head size ( microcephaly ). Affected individuals may also develop a hole in ... Arthrogryposis ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (2 links) ...

  11. Genetics Home Reference: isolated growth hormone deficiency

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  12. Genetics Home Reference: Tay-Sachs disease

    ... NIH Resources (4 links) GeneEd National Human Genome Research Institute National Institute of Neurological Disorders and Stroke: Lipid Storage Diseases Fact Sheet National Institute of Neurological ...

  13. Genetics Home Reference: Parkes Weber syndrome

    ... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (6 links) Boston Children's Hospital Cincinnati Children's Hospital Medical Center: Arteriovenous Malformations ...

  14. Genetics Home Reference: adenosine deaminase deficiency

    ... Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia (PDF) Genetic Testing (1 link) Genetic Testing Registry: Severe ... Diseases Immune Deficiency Foundation Jeffrey Modell Foundation National Organization for Rare ... OMIM (1 link) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE ...

  15. Genetics Home Reference: intestinal pseudo-obstruction

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Intestinal pseudo-obstruction caused by ACTG2 gene mutations is inherited in an autosomal dominant pattern , which means one copy of the altered ...

  16. Genetics Home Reference: Pitt-Hopkins syndrome

    ... 1 link) PubMed OMIM (1 link) PITT-HOPKINS SYNDROME Sources for This Page Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Mutations in TCF4, ... a severe epileptic encephalopathy associated with autonomic dysfunction. ...

  17. Genetics Home Reference: Ehlers-Danlos syndrome

    ... Facebook Twitter Home Health Conditions Ehlers-Danlos syndrome Ehlers-Danlos syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Ehlers-Danlos syndrome is a group of disorders that affect connective ...

  18. Genetics Home Reference: critical congenital heart disease

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  19. Genetics Home Reference: spastic paraplegia type 3A

    ... bladder control, an abnormal curvature of the spine ( scoliosis ), loss of sensation in the feet (peripheral neuropathy), ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Home Edition National Health Service (UK) Orphanet: Hereditary ...

  20. Genetics Home Reference: hereditary paraganglioma-pheochromocytoma

    ... 295(6):628. Citation on PubMed Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  1. Genetics Home Reference: White-Sutton syndrome

    ... Disorder National Institute of Neurological Disorders and Stroke: Autism Spectrum Disorder Fact Sheet Educational Resources (7 links) American Academy of Child and Adolescent Psychiatry: Intellectual Disabilities American Academy of Family Physicians: Caring for a Person Who Has Intellectual ...

  2. Genetics Home Reference: spastic paraplegia type 8

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  3. Genetics Home Reference: spastic paraplegia type 31

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  4. Genetics Home Reference: chylomicron retention disease

    ... reflexes (hyporeflexia) and a decreased ability to feel vibrations. Related Information What does it mean if a ... Encyclopedia: Malabsorption General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  5. Genetics Home Reference: familial cold autoinflammatory syndrome

    ... inflammatory response. Monarch-1 is involved in the inhibition of the inflammatory response. Mutations in the NLRP12 ... cold autoinflammatory syndrome Orphanet: Familial cold urticaria Patient Support and Advocacy Resources (3 links) Autoinflammatory Alliance National ...

  6. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  7. Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

    ... slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  8. Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

    ... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...

  9. Genetics Home Reference: Meesmann corneal dystrophy

    ... was first described in a large, multi-generational German family with more than 100 affected members. Since ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  10. Genetics Home Reference: progressive external ophthalmoplegia

    ... and can affect both males and females, but fathers do not pass traits associated with changes in ... Genetic Testing (4 links) Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ...

  11. Genetics Home Reference: nephrogenic diabetes insipidus

    ... with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). ... gene have features of nephrogenic diabetes insipidus , including polyuria and polydipsia. A characteristic of X-linked inheritance ...

  12. Genetics Home Reference: focal dermal hypoplasia

    ... in people with focal dermal hypoplasia is an omphalocele , which is an opening in the wall of ... Dermal Hypoplasia MedlinePlus Encyclopedia: Ectodermal dysplasia MedlinePlus Encyclopedia: Omphalocele General Information from MedlinePlus (5 links) Diagnostic Tests ...

  13. Genetics Home Reference: congenital generalized lipodystrophy

    ... an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) ... links) Encyclopedia: Acanthosis Nigricans Encyclopedia: Chronic ... Hypertrophic Cardiomypathy Encyclopedia: Polycystic Ovary Syndrome ...

  14. Genetics Home Reference: MECP2 duplication syndrome

    ... and Stroke: Seizures and Epilepsy National Institute of Neurological Disorders and Stroke: Spasticity Information Page Educational Resources (6 links) Boston Children's Hospital: Respiratory Distress Boston Children's Hospital: Seizures Centers ...

  15. Genetics Home Reference: hypomyelination and congenital cataract

    ... Eye Institute: Facts About Cataract National Institute of Neurological Disorders and Stroke: Peripheral Neuropathy Fact Sheet Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Boston Children's Hospital: Nervous ...

  16. Genetics Home Reference: triple A syndrome

    ... Adrenal Insufficiency and Addison's Disease National Institute of Neurological Disorders and Stroke: Dysautonomia Educational Resources (5 links) Boston Children's Hospital: Achalasia Disease InfoSearch: Achalasia Addisonianism Alacrimia Syndrome ...

  17. Genetics Home Reference: microvillus inclusion disease

    ... moving components from the cell membrane to the interior of the cell for recycling. MYO5B gene mutations ... atrophy Other Diagnosis and Management Resources (3 links) Children's Hospital of Pittsburgh Great Ormond Street Hospital for ...

  18. Genetics Home Reference: Sturge-Weber syndrome

    ... Testing Registry: Sturge-Weber syndrome Other Diagnosis and Management Resources (7 links) Boston Children's Hospital: Sturge-Weber Syndrome Clinic Children's Hospital of Philadelphia: Capillary Vascular Malformations: Port ...

  19. Genetics Home Reference: familial isolated pituitary adenoma

    ... children or adolescents can lead to increased height (gigantism), because the long bones of their arms and ... Information & Resources MedlinePlus (6 links) Encyclopedia: Acromegaly Encyclopedia: Gigantism Encyclopedia: Pituitary Tumor Encyclopedia: Prolactinoma Health Topic: Endocrine ...

  20. Genetics Home Reference: familial glucocorticoid deficiency

    ... deficiency Patient Support and Advocacy Resources (5 links) Australian Pituitary Foundation: An Introduction to Adrenal Insufficiency in ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

  1. Genetics Home Reference: deafness and myopia syndrome

    ... Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. Gene. ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  2. Genetics Home Reference: branchiootorenal/branchiootic syndrome

    ... branchiootorenal spectrum disorders). "Branchio-" refers to the second branchial arch, which is a structure in the developing ... BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses ...

  3. Genetics Home Reference: autosomal dominant hypocalcemia

    ... individuals have features of a kidney disorder called Bartter syndrome in addition to hypocalcemia. These features can include ... sometimes referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V. There are two ...

  4. Genetics Home Reference: Andersen-Tawil syndrome

    ... abnormal side-to-side curvature of the spine ( scoliosis ). The signs and symptoms of Andersen-Tawil syndrome ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... from the Nemours Foundation: Arrhythmias Merck Manual Consumer Version: Long QT Syndrome and Torsades de ...

  5. Genetics Home Reference: Beckwith-Wiedemann syndrome

    ... opening in the wall of the abdomen (an omphalocele ) that allows the abdominal organs to protrude through ... Beckwith-Wiedemann syndrome MedlinePlus Encyclopedia: Macroglossia MedlinePlus Encyclopedia: Omphalocele General Information from MedlinePlus (5 links) Diagnostic Tests ...

  6. PhysLink Physics and Astronomy online education and reference

    The PhysLink.com is a comprehensive physics and astronomy online education, research and reference web site. In addition to providing high-quality content, PhysLink.com is a meeting place for professionals, students and other curious minds.

  7. Inhibited attachment behaviour and disinhibited social engagement behaviour as relevant concepts in referred home reared children.

    Scheper, F Y; Abrahamse, M E; Jonkman, C S; Schuengel, C; Lindauer, R J L; de Vries, A L C; Doreleijers, T A H; Jansen, L M C

    2016-07-01

    Disorders of attachment and social engagement have mainly been studied in children, reared in institutions and foster care. There are few studies amongst home reared children living with biological parents. The aim of this study was to test the clinical significance of inhibited attachment behaviour and disinhibited social engagement behaviour in young home reared children, referred for treatment of emotional and behavioural problems, compared with young children in treatment foster care. The Disturbances of Attachment Interview, Maltreatment Classification System, the Child Behaviour Checklist and Parenting Stress Index were used in 141 referred home reared children and 59 referred foster children, aged 2.0-7.9 years (M = 4.7, SE = 1.3), 71% boys. Inhibited attachment behaviour was less prevalent in the referred home reared group (9%) than in the foster care group (27%). Disinhibited social engagement behaviour was found in 42% of the home reared group, similar to the foster care group. Inhibited attachment behaviour and disinhibited social engagement behaviour were not associated with child maltreatment. More inhibited attachment behaviour was associated with clinical levels of child internalizing and externalizing behaviour in the home reared group, not in the foster care group. In both groups, more disinhibited social engagement behaviour was associated with clinical levels of externalizing behaviour and with more parenting stress. Even without evident links to maltreatment, results of this study suggest clinical significance of inhibited attachment behaviour and disinhibited social engagement behaviour in young home reared children referred for treatment of emotional and behavioural problems. © 2016 John Wiley & Sons Ltd.

  8. Home-School Links: Networking the Learning Community.

    1996

    The topic of networking the learning community with home-school links is addressed in four papers: "Internet Access via School: Expectations of Students and Parents" (Roy Crotty); "The School Library as Community Information Gateway" (Megan Perry); "Rural Access to the Internet" (Ken Eustace); and "NetDay '96:…

  9. Space-time reference with an optical link

    Berceau, P; Hollberg, L; Taylor, M; Kahn, J

    2016-01-01

    We describe a concept for realizing a high performance space-time reference using a stable atomic clock in a precisely defined orbit and synchronizing the orbiting clock to high-accuracy atomic clocks on the ground. The synchronization would be accomplished using a two-way lasercom link between ground and space. The basic approach is to take advantage of the highest-performance cold-atom atomic clocks at national standards laboratories on the ground and to transfer that performance to an orbiting clock that has good stability and that serves as a ‘frequency-flywheel’ over time-scales of a few hours. The two-way lasercom link would also provide precise range information and thus precise orbit determination. With a well-defined orbit and a synchronized clock, the satellite could serve as a high-accuracy space-time reference, providing precise time worldwide, a valuable reference frame for geodesy, and independent high-accuracy measurements of GNSS clocks. Under reasonable assumptions, a practical system would be able to deliver picosecond timing worldwide and millimeter orbit determination, and could serve as an enabling subsystem for other proposed space-gravity missions, which are briefly reviewed. (paper)

  10. Genetics Home Reference: X-linked myotubular myopathy

    ... 25 [updated 2011 Oct 6]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  11. Genetics Home Reference: X-linked infantile nystagmus

    ... 12 [updated 2011 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

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

    ... 13 [updated 2015 Apr 23]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  13. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    ... 20 [updated 2013 Oct 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

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

    ... 22 [updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  15. Genetics Home Reference: X-linked cardiac valvular dysplasia

    ... my area? Other Names for This Condition congenital valvular heart disease CVD1 filamin-A-associated myxomatous mitral valve disease ... Valves (image) Encyclopedia: Mitral Valve Prolapse Health Topic: Heart Valve Diseases Health Topic: Mitral Valve Prolapse Genetic and Rare ...

  16. Genetics Home Reference: X-linked chondrodysplasia punctata 2

    ... thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine ( ... tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. ...

  17. Genetics Home Reference: microphthalmia with linear skin defects syndrome

    ... Additional NIH Resources (1 link) National Eye Institute: Anophthalmia and Microphthalmia Educational Resources (2 links) Disease InfoSearch: ... Foundation for the Blind Foundation Fighting Blindness Microphthalmia, Anophthalmia and Coloboma Support GeneReviews (1 link) Microphthalmia with ...

  18. Genetics Home Reference: combined malonic and methylmalonic aciduria

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  19. Genetics Home Reference: CASK-related intellectual disability

    ... Disorders ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (2 links) FG SYNDROME 4 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA Sources for This ...

  20. Genetics Home Reference: PDGFRA-associated chronic eosinophilic leukemia

    ... link) Genetic Testing Registry: Idiopathic hypereosinophilic syndrome Other Diagnosis and Management Resources (3 links) Cancer.Net: Leukemia - Eosinophilic: Treatment MedlinePlus Encyclopedia: Eosinophil Count - Absolute Seattle ...

  1. Genetics Home Reference: malignant migrating partial seizures of infancy

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Epilepsy Educational Resources (7 links) Boston Children's Hospital: Seizures Centers for Disease Control and Prevention: ...

  2. Genetics Home Reference: RNAse T2-deficient leukoencephalopathy

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Leukodystrophy Information Page Educational Resources (4 links) Children's Hospital of Philadelphia: Leukodystrophy Kennedy Krieger Institute: Leukodystrophy ...

  3. Genetics Home Reference: megalencephaly-capillary malformation syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

  4. Legionnaires' Disease acquired within the homes of two patients: link to the home water supply

    Stout, J.E.; Yu, V.L.; Muraca, P.

    1987-01-01

    Two patients with sporadic community-acquired legionnaires' disease are described. Legionella pneumophila was isolated from sputum specimens, and seroconversion of antibody titers was demonstrated for both patients. Legionella pneumophila was also recovered from the residential water supply of both patients. In each case, the serogroup of the environmental organism matched that of the infecting organism. In one patient, serogroup 3 was isolated - a rare cause of legionnaires' disease, and in the second case, monoclonal antibody testing confirmed that the serogroup 1 organisms isolated from sputum and residential water supply samples were identical. The incubation period of legionnaires' disease is presumed to be up to two weeks. Because of medical problems, both patients had been confined to their homes for the entire two weeks before the onset of symptoms. This is the first report that links acquisition of community-acquired legionnaires' disease to contaminated water supplies within the homes of susceptible patients

  5. Genetics Home Reference: cytogenetically normal acute myeloid leukemia

    ... Testing (1 link) Genetic Testing Registry: Acute myeloid leukemia Other Diagnosis and Management Resources (3 links) Fred Hutchinson Cancer Research Center National Cancer Institute: Acute Myeloid Leukemia Treatment St. Jude Children's Research Hospital General Information ...

  6. Genetics Home Reference: lacrimo-auriculo-dento-digital syndrome

    ... Resources (2 links) National Eye Institute: Facts About Dry Eye National Institute of Dental and Craniofacial Research: Dry Mouth Educational Resources (11 links) American Optometric Association: Dry Eye Boston Children's Hospital: Thumb Duplication Pre-Axial Polydactyly ...

  7. Genetics Home Reference: platyspondylic lethal skeletal dysplasia, Torrance type

    ... and an exaggerated curvature of the lower back ( lordosis ). Infants with this condition are born with a ... Diagnosis and Management Resources (1 link) MedlinePlus Encyclopedia: Lordosis General Information from MedlinePlus (5 links) Diagnostic Tests ...

  8. Genetics Home Reference: Opitz G/BBB syndrome

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Rarely, Opitz G/BBB syndrome is inherited in an autosomal dominant pattern , which means one copy of the altered ...

  9. Genetics Home Reference: Emery-Dreifuss muscular dystrophy

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... the LMNA gene, this condition has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...

  10. Genetics Home Reference: McCune-Albright syndrome

    ... while other cells have the mutated version. This phenomenon is called mosaicism . The severity of this disorder ... 1 link) Eunice Kennedy Shriver National Institute for Child Health and Human Development Educational Resources (3 links) ...

  11. Genetics Home Reference: activated PI3K-delta syndrome

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Immunodeficiency 14 Other Diagnosis and Management Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking to Your Doctor ...

  12. Genetics Home Reference: early infantile epileptic encephalopathy 1

    ... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

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

    ... Twitter Home Health Conditions NARP Neuropathy, ataxia, and retinitis pigmentosa Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description Neuropathy, ataxia, and retinitis pigmentosa ( NARP ) is a condition that causes a variety ...

  14. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    ... in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of ... Home Edition for Patients and Caregivers: Dilated Cardiomyopathy Neuromuscular Disease Center, Washington University Orphanet: Early-onset myopathy ...

  15. Genetics Home Reference: carnitine-acylcarnitine translocase deficiency

    ... Email Facebook Twitter Home Health Conditions CACT deficiency Carnitine-acylcarnitine translocase deficiency Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that ...

  16. Genetics Home Reference: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

    ... Facebook Twitter Home Health Conditions APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy Printable PDF Open All Close All ... view the expand/collapse boxes. Description Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy ( APECED ) is an inherited condition that ...

  17. Genetics Home Reference: myostatin-related muscle hypertrophy

    ... Twitter Home Health Conditions Myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Myostatin-related muscle hypertrophy is a rare condition characterized ...

  18. Genetics Home Reference: Smith-Lemli-Opitz syndrome

    ... Twitter Home Health Conditions Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Smith-Lemli-Opitz syndrome is a developmental disorder that ...

  19. Genetics Home Reference: familial encephalopathy with neuroserpin inclusion bodies

    ... Home Health Conditions FENIB Familial encephalopathy with neuroserpin inclusion bodies Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Familial encephalopathy with neuroserpin inclusion bodies ( FENIB ) is a disorder that causes progressive ...

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

    ... Home Edition for Patients and Caregivers: Long QT Syndrome and Torsades de Pointes Ventricular Tachycardia Orphanet: Familial long QT syndrome Orphanet: Jervell and Lange-Nielsen syndrome Patient Support ...

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

    ... Home Health Conditions HLRCC Hereditary leiomyomatosis and renal cell cancer Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Hereditary leiomyomatosis and renal cell cancer ( HLRCC ) is a disorder in which affected individuals ...

  2. Genetics Home Reference: glycogen storage disease type VII

    ... Home Health Conditions Glycogen storage disease type VII Glycogen storage disease type VII Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type VII (GSDVII) is an inherited ...

  3. Genetics Home Reference: glycogen storage disease type IV

    ... Home Health Conditions Glycogen storage disease type IV Glycogen storage disease type IV Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Glycogen storage disease type IV (GSD IV) is an ...

  4. Genetics Home Reference: hyperparathyroidism-jaw tumor syndrome

    ... Twitter Home Health Conditions Hyperparathyroidism-jaw tumor syndrome Hyperparathyroidism-jaw tumor syndrome Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Hyperparathyroidism-jaw tumor syndrome is a condition characterized by ...

  5. Genetics Home Reference: fragile X-associated primary ovarian insufficiency

    ... Share: Email Facebook Twitter Home Health Conditions FXPOI Fragile X-associated primary ovarian insufficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated primary ovarian insufficiency ( FXPOI ) is a condition ...

  6. Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

    ... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

  7. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    ... Eye Institute: Facts About Cataracts National Institute of Neurological Disorders and Stroke: Hereditary Neuropathies Educational Resources (5 links) Boston Children's Hospital: Cataracts in Children Centers for Disease Control ...

  8. Genetics Home Reference: microcephaly-capillary malformation syndrome

    ... and Stroke: Epilepsy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Educational Resources (7 links) Boston Children's Hospital: Capillary Malformation Boston Children's Hospital: Microcephaly Centers ...

  9. Genetics Home Reference: familial acute myeloid leukemia with mutated CEBPA

    ... Familial acute myeloid leukemia with mutated CEBPA Familial acute myeloid leukemia with mutated CEBPA Printable PDF Open All Close ... on PubMed (1 link) PubMed OMIM (1 link) LEUKEMIA, ACUTE MYELOID Sources for This Page Carmichael CL, Wilkins EJ, ...

  10. Genetics Home Reference: core binding factor acute myeloid leukemia

    ... binding factor acute myeloid leukemia Core binding factor acute myeloid leukemia Printable PDF Open All Close All Enable Javascript ... on PubMed (1 link) PubMed OMIM (1 link) LEUKEMIA, ACUTE MYELOID Sources for This Page Goyama S, Mulloy JC. Molecular ...

  11. Genetics Home Reference: anhidrotic ectodermal dysplasia with immune deficiency

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When EDA-ID is caused by mutations in the NFKBIA gene, the condition is inherited in an autosomal dominant pattern , which means one copy of the altered ...

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

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 links) ... AB variant Activator Deficiency/GM2 Gangliosidosis Activator-deficient Tay-Sachs disease GM2 Activator Deficiency Disease GM2 gangliosidosis, type AB ...

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

    ... Home Health Conditions Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder ...

  14. Genetics Home Reference: Sjögren-Larsson syndrome

    ... Email Facebook Twitter Home Health Conditions Sjögren-Larsson syndrome Sjögren-Larsson syndrome Printable PDF Open All Close All ... FALDH deficiency fatty aldehyde dehydrogenase deficiency ichthyosis oligophrenia syndrome Sjogren-Larsson syndrome SLS Related Information How are genetic ...

  15. Genetics Home Reference: Müllerian aplasia and hyperandrogenism

    ... do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. ... Encyclopedia: Ovarian Overproduction of Androgens MedlinePlus Encyclopedia: Primary Amenorrhea General Information from MedlinePlus (5 links) Diagnostic Tests ...

  16. Genetics Home Reference: congenital bile acid synthesis defect type 1

    ... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

  17. Genetics Home Reference: lattice corneal dystrophy type II

    ... leading to muscle weakness, clumsiness, and difficulty sensing vibrations. The skin is also commonly affected in people ... Lamp Examination General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  18. Genetics Home Reference: frontotemporal dementia with parkinsonism-17

    ... FTDP-17 . These changes include a loss of inhibition, inappropriate emotional responses, restlessness, neglect of personal hygiene, ... California, San Fransisco Memory and Aging Center Patient Support and Advocacy Resources (4 links) Association for Frontotemporal ...

  19. Genetics Home Reference: bare lymphocyte syndrome type I

    ... R. ABC proteins in antigen translocation and viral inhibition. Nat Chem Biol. 2010 Aug;6(8):572- ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  20. Genetics Home Reference: tarsal-carpal coalition syndrome

    ... Belmonte JC, Choe S. Structural basis of BMP signalling inhibition by the cystine knot protein Noggin. Nature. 2002 ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  1. Genetics Home Reference: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

    ... feelings of intense happiness (euphoria), a loss of inhibition, and poor concentration. These neurologic changes cause significant ... with sclerosing leukoencephalopathy Orphanet: Nasu-Hakola disease Patient Support and Advocacy Resources (3 links) Alzheimer's Association Family ...

  2. Genetics Home Reference: scalp-ear-nipple syndrome

    ... of the tissues that arise from the ectoderm (ectodermal dysplasia) and leads to the signs and symptoms of ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Ectodermal dysplasia Health Topic: Skin Conditions Genetic and Rare Diseases ...

  3. Genetics Home Reference: neutral lipid storage disease with myopathy

    ... named? Additional Information & Resources MedlinePlus (6 links) Encyclopedia: Hypothyroidism Encyclopedia: Type 2 Diabetes Health Topic: Cardiomyopathy Health Topic: Lipid Metabolism Disorders Health Topic: Muscle Disorders Health Topic: Pancreatitis Genetic and Rare Diseases ...

  4. Genetics Home Reference: Ellis-van Creveld syndrome

    ... bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms ... Ellis-van Creveld Syndrome Encyclopedia: Polydactyly Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  5. Genetics Home Reference: GRN-related frontotemporal dementia

    ... making a protein called granulin (also known as progranulin). Granulin is active in many different tissues in ... Boeve B, Feldman H, Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome ...

  6. Genetics Home Reference: autosomal dominant nocturnal frontal lobe epilepsy

    ... with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear ... Epilepsy Society Citizens United for Research in Epilepsy (CURE) GeneReviews (1 link) Autosomal Dominant Nocturnal Frontal Lobe ...

  7. Genetics Home Reference: familial focal epilepsy with variable foci

    ... with FFEVF have developed psychiatric disorders (such as schizophrenia ), behavioral problems, or intellectual disability. It is unclear ... 5 links) American Epilepsy Society Brain Foundation (Australia) CURE: Citizens United for Research in Epilepsy Epilepsy Foundation ...

  8. Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency

    ... deficiency Encyclopedia: Glucose-6-phosphate dehydrogenase test Encyclopedia: Hemolytic anemia Encyclopedia: Newborn jaundice Health Topic: Anemia Health Topic: G6PD Deficiency Health Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 link) Glucose-6-phosphate dehydrogenase ...

  9. Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

    ... blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type BMRS, MKB type Ohdo syndrome, MKB type X-linked ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

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

    ... cells in the developing brain. This hormone, called triiodothyronine or T3, is produced by a butterfly-shaped ... with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab. 2007 Jun;92(6): ...

  11. Genetics Home Reference: REN-related kidney disease

    ... 2 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (5 links) Encyclopedia: Hyperkalemia Encyclopedia: Renin Health Topic: Anemia Health Topic: Gout Health Topic: Kidney Diseases Additional NIH Resources (2 ...

  12. Genetics Home Reference: uromodulin-associated kidney disease

    ... disease Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Health Topic: Gout Health Topic: Kidney Diseases Health Topic: Kidney Failure ...

  13. Genetics Home Reference: Weissenbacher-Zweymüller syndrome

    ... Dev Med Child Neurol. 1991 Dec;33(12):1104-9. Citation on PubMed Harel T, Rabinowitz R, ... professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright ...

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

    ... Acad Child Adolesc Psychiatry. 2006 Sep;45(9):1104-13. Citation on PubMed Yagi H, Furutani Y, ... professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright ...

  15. Genetics Home Reference: non-alcoholic fatty liver disease

    ... individual is considered to have a fatty liver (hepatic steatosis) if the liver contains more than 5 to ... Resources Genetic Testing (2 links) Genetic Testing Registry: Fatty liver disease, nonalcoholic 1 Genetic Testing Registry: Fatty liver ...

  16. Genetics Home Reference: MECP2-related severe neonatal encephalopathy

    ... and Stroke: Encephalopathy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (8 links) Boston Children's Hospital: Seizures Centers for Disease Control and Prevention: ...

  17. Genetics Home Reference: STXBP1 encephalopathy with epilepsy

    ... Resources (8 links) Boston Children's Hospital: Epilepsy and Seizure Disorder in Children Centers for Disease Control and Prevention: ... stxbp1 encephalopathy with epilepsy Merck Manual Consumer Version: Seizure Disorders Orphanet: Early infantile epileptic encephalopathy Patient Support and ...

  18. Genetics Home Reference: branchio-oculo-facial syndrome

    ... face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo ...

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

    ... 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 ...

  20. Genetics Home Reference: Stevens-Johnson syndrome/toxic epidermal necrolysis

    ... Hung SI. Recent advances in the genetics and immunology of Stevens-Johnson syndrome and toxic epidermal necrosis. ... 2012 May 29. Citation on PubMed or Free article on PubMed Central More from Genetics Home Reference ...

  1. Which cancer patients are referred to hospital at home for palliative care?

    Grande, G. E.; McKerral, A.; Todd, C. J.

    2002-01-01

    Previous research has shown that palliative home care use is influenced by variables such as age, socioeconomic status, presence of an informal carer, diagnosis, and care dependency. However, there is little information on its association with other health service use. This study compared 121 cancer patients referred to Hospital at Home (HAH) for palliative care with a sample of 206 cancer patients not referred who died within the same period. Electronic record linkage of NHS databases enable...

  2. Genetics Home Reference: carbamoyl phosphate synthetase I deficiency

    ... belongs to a class of genetic diseases called urea cycle disorders. In this condition, the carbamoyl phosphate synthetase I ... Management Resources (4 links) Baby's First Test GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  3. Genetics Home Reference: N-acetylglutamate synthase deficiency

    ... belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions ... Other Diagnosis and Management Resources (3 links) GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  4. Genetics Home Reference: 22q13.3 deletion syndrome

    ... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q ... L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of ...

  5. Genetics Home Reference: atypical hemolytic-uremic syndrome

    ... Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You Educational Resources (6 links) Disease InfoSearch: Hemolytic uremic syndrome, atypical MalaCards: genetic atypical hemolytic-uremic syndrome Merck Manual Consumer Version: Overview of Anemia Merck Manual Consumer Version: ...

  6. Genetics Home Reference: Duane-radial ray syndrome

    ... it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from ... Additional Information & Resources MedlinePlus (3 links) Encyclopedia: ... Human Genome Research Institute: Duane Syndrome Educational Resources (5 ...

  7. Student, Home, and School Socio-Demographic Factors: Links to School, Home, and Community Arts Participation

    Mansour, Marianne; Martin, Andrew J.; Anderson, Michael; Gibson, Robyn; Liem, Gregory Arief D.; Sudmalis, David

    2016-01-01

    This study explored the role of student (e.g., age, language background, gender), home (e.g., parent/caregiver education), and school (e.g., school type, size) socio-demographic factors in students' school (e.g., in-school arts tuition, arts engagement), home (e.g., parent/caregiver-child arts interaction), and community (e.g., arts attendance,…

  8. Linking mortgage finance incentives to a voluntary home energy rating system: Insight into consensus building

    Jenior, M.-M.

    1994-01-01

    A collaborative consensus process was created to implement a program linking voluntary home energy rating systems (HERS) to mortgage incentives. The participants involved many of the stakeholders or interest groups who have a role in implementing and who will be affected by energy efficiency mortgate incentive programs linked to HERS. The participants included representatives from the primary and secondary mortgage market; real estate, home building, and remodeling industries; utilities; state, local, consumer, and environmental organizations; and home energy rating providers. The participants defined the actions required to implement as well as the technical requirements of a program linking home energy ratings and mortgage finance. Building on the recommendations of the collaborative process, members of the collaborative continue to take initiatives to put a Home Energy Rating Systems Council into place, in planning pilot programs for developing and testing ways to link HERS and mortgage programs, and in making home buyers and owners aware of existing mortgage incentives. At the same time, mortgage providers are working to develop uniformity among mortgage incentive programs and with the US Department of Energy to develop procedures to verify the relative accuracy of HERS calculation tools and their application, and with the emerging HERS Council to develop the guidelines for voluntary HERS required under the Energy Policy Act of 1992

  9. Data Link Test and Analysis System/ATCRBS Transponder Test System Technical Reference

    1990-05-01

    This document references material for personnel using or making software changes : to the Data Link Test and Analysis System (DATAS) for Air Traffic Control Radar : Beacon System (ATCRBS) transponder testing and data collection. This is one of : a se...

  10. Home

    AF Branding & Trademark Licensing Join the Air Force Home About Us The Air Force Symbol Display Resources Document Library TM Connect Search AF Branding and Trademark Licensing Program: important links Legal Documents 10 U.S.C. § 2260 15 U.S.C. § 167;167; 1114-1125 DODI 5535.12, DoD Branding and

  11. Linking seasonal home range size with habitat selection and movement in a mountain ungulate.

    Viana, Duarte S; Granados, José Enrique; Fandos, Paulino; Pérez, Jesús M; Cano-Manuel, Francisco Javier; Burón, Daniel; Fandos, Guillermo; Aguado, María Ángeles Párraga; Figuerola, Jordi; Soriguer, Ramón C

    2018-01-01

    and account for process dependencies, here the interdependence of movement and habitat selection, to understand how animals use space. This study contributes to understand how movement links environmental and geographical space use and determines home range behaviour in large herbivores.

  12. The company objects keep: Linking referents together during cross-situational word learning.

    Zettersten, Martin; Wojcik, Erica; Benitez, Viridiana L; Saffran, Jenny

    2018-04-01

    Learning the meanings of words involves not only linking individual words to referents but also building a network of connections among entities in the world, concepts, and words. Previous studies reveal that infants and adults track the statistical co-occurrence of labels and objects across multiple ambiguous training instances to learn words. However, it is less clear whether, given distributional or attentional cues, learners also encode associations amongst the novel objects. We investigated the consequences of two types of cues that highlighted object-object links in a cross-situational word learning task: distributional structure - how frequently the referents of novel words occurred together - and visual context - whether the referents were seen on matching backgrounds. Across three experiments, we found that in addition to learning novel words, adults formed connections between frequently co-occurring objects. These findings indicate that learners exploit statistical regularities to form multiple types of associations during word learning.

  13. An age-related deficit in spatial-feature reference memory in homing pigeons (Columba livia).

    Coppola, Vincent J; Flaim, Mary E; Carney, Samantha N; Bingman, Verner P

    2015-03-01

    Age-related memory decline in mammals has been well documented. By contrast, very little is known about memory decline in birds as they age. In the current study we trained younger and older homing pigeons on a reference memory task in which a goal location could be encoded by spatial and feature cues. Consistent with a previous working memory study, the results revealed impaired acquisition of combined spatial-feature reference memory in older compared to younger pigeons. Following memory acquisition, we used cue-conflict probe trials to provide an initial assessment of possible age-related differences in cue preference. Both younger and older pigeons displayed a similarly modest preference for feature over spatial cues. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. Toward a Dexter-based model for open hypermedia: Unifying embedded references and link objects

    Grønbæk, Kaj; Trigg, Randall Hagner

    1996-01-01

    Nominated for the Doug Engelbart best paper award. This paper discusses experiences and lessons learned from the design of an open hypermedia system, one that integrates applications and data not ''owned'' by the hypermedia. The Dexter Hypertext Reference Model was used as the basis for the design....... Though our experiences were generally positive, we found the model constraining in certain ways and underdeveloped in others. For instance, Dexter argues against dangling links, but we found several situations where permitting and supporting dangling links was advisable. In Dexter, the data objects...

  15. A Longitudianl Study of the Link Between Broken Homes and Criminality.

    McCord, Joan

    Possible explanatory theories of the relationship between broken homes and crime include the following: (1) broken homes lead to crimes if there are "catalytic agents"; (2) broken homes lead to crime if these homes fail to provide certain conditions which promote socialization; and (3) broken homes and crime have a common source, but not…

  16. Nursing home staff members' subjective frames of reference on residents' achievement of ego integrity: A Q-methodology study.

    Lim, Sun-Young; Chang, Sung-Ok

    2018-01-01

    To discover the structure of the frames of reference for nursing home staff members' subjective judgment of residents' achievement of ego integrity. Q-methodology was applied. Twenty-eight staff members who were working in a nursing home sorted 34 Q-statements into the shape of a normal distribution. A centroid factor analysis and varimax rotation, using the PQ-method program, revealed four factors: identifying clues to residents' positive acceptance of their whole life span, identifying residents' ways of enjoying their current life, referencing residents' attitudes and competencies toward harmonious relationships, and identifying residents' integrated efforts to establish self-esteem. These subjective frames of reference need to be investigated in order to improve the relationships with nursing home residents and their quality of life. Consequently, the fundamental monitoring tools to help staff members make subjective judgments can be formed. © 2017 Japan Academy of Nursing Science.

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    Military Commission Seal VWAP Login Home Go ABOUT US Organization Overview Organizational Chart Families VWAP Login CCTV Sites Travel Media MC News CCTV Sites Travel Today at OMC Home Today at OMC Daily

  18. Genetics Home Reference: X-linked hyper IgM syndrome

    ... it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production ...

  19. Lower back pain in nurses working in home care: linked to work-family conflict, emotional dissonance, and appreciation?

    Elfering, Achim; Häfliger, Evelyne; Celik, Zehra; Grebner, Simone

    2018-07-01

    In industrial countries home care services for elderly people living in the community are growing rapidly. Home care nursing is intensive and the nurses often suffer from musculoskeletal pain. Time pressure and job control are job-related factors linked to the risk of experiencing lower back pain (LBP) and LBP-related work impairment. This survey investigated whether work-family conflict (WFC), emotional dissonance and being appreciated at work have incremental predictive value. Responses were obtained from 125 home care nurses (63% response rate). Multiple linear regression showed that emotional dissonance and being appreciated at work predicted LBP intensity and LBP-related disability independently of time pressure and job control. WFC was not a predictor of LBP-related disability in multiple regression analyses despite a zero-order correlation with it. Redesigning the working pattern of home care nurses to reduce the emotional demands and improve appreciation of their work might reduce the incidence of LBP in this group.

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

    ... Management Resources Formal Diagnostic Criteria (1 link) ACT Sheet: Elevated C16-OH +/- C18:1-OH and Other Long Chain Acylcarnitines (PDF) Formal Treatment/Management Guidelines (1 link) New England Consortium of Metabolic ...

  1. Genetics Home Reference: very long-chain acyl-CoA dehydrogenase deficiency

    ... Management Resources Formal Diagnostic Criteria (1 link) ACT Sheet: Elevated C14:1 +/- other long-chain acylcarnitines (PDF) Formal Treatment/Management Guidelines (1 link) New England Consortium of Metabolic ...

  2. Genetics Home Reference: medium-chain acyl-CoA dehydrogenase deficiency

    ... Management Resources Formal Diagnostic Criteria (1 link) ACT Sheet: Elevated C8 with Lesser Elevations of C6 and C10 Acylcarnitine (PDF) Formal Treatment/Management Guidelines (2 links) British Inherited Metabolic Disease Group: ...

  3. Genetics Home Reference: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal ...

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Mitochondrial Myopathy Information Page Educational Resources (7 links) Cincinnati Children's Hospital: Mitochondrial Diseases Disease InfoSearch: Mitochondrial DNA depletion ...

  4. Genetics Home Reference: FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Mitochondrial Myopathy Information Page Educational Resources (3 links) Cincinnati Children's Hospital: Mitochondrial Diseases Kennedy Krieger Institute: Mitochondrial Disorders ...

  5. Genetics Home Reference: TK2-related mitochondrial DNA depletion syndrome, myopathic form

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Mitochondrial Myopathies Information Page Educational Resources (10 links) Boston Children's Hospital: Muscle Weakness Cincinnati Children's Hospital: Mitochondrial Diseases ...

  6. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

    ... Share: Email Facebook Twitter Home Health Conditions IBMPFD Inclusion body myopathy with early-onset Paget disease and ... Javascript to view the expand/collapse boxes. Description Inclusion body myopathy with early-onset Paget disease and ...

  7. Early Steps to School Success (ESSS): Examining Pathways Linking Home Visiting and Language Outcomes

    Iruka, Iheoma U.; Brown, Deborah; Jerald, Judith; Blitch, Kimberly

    2018-01-01

    Background: Improving the home environment and parenting practices to support children's early development and learning is a key focus of many. Home visiting is one potential strategy to improve the home environment and parenting; however, more data about current programmatic efforts is needed, especially for children with multiple risks living in…

  8. Research on the model of home networking

    Yun, Xiang; Feng, Xiancheng

    2007-11-01

    It is the research hotspot of current broadband network to combine voice service, data service and broadband audio-video service by IP protocol to transport various real time and mutual services to terminal users (home). Home Networking is a new kind of network and application technology which can provide various services. Home networking is called as Digital Home Network. It means that PC, home entertainment equipment, home appliances, Home wirings, security, illumination system were communicated with each other by some composing network technology, constitute a networking internal home, and connect with WAN by home gateway. It is a new network technology and application technology, and can provide many kinds of services inside home or between homes. Currently, home networking can be divided into three kinds: Information equipment, Home appliances, Communication equipment. Equipment inside home networking can exchange information with outer networking by home gateway, this information communication is bidirectional, user can get information and service which provided by public networking by using home networking internal equipment through home gateway connecting public network, meantime, also can get information and resource to control the internal equipment which provided by home networking internal equipment. Based on the general network model of home networking, there are four functional entities inside home networking: HA, HB, HC, and HD. (1) HA (Home Access) - home networking connects function entity; (2) HB (Home Bridge) Home networking bridge connects function entity; (3) HC (Home Client) - Home networking client function entity; (4) HD (Home Device) - decoder function entity. There are many physical ways to implement four function entities. Based on theses four functional entities, there are reference model of physical layer, reference model of link layer, reference model of IP layer and application reference model of high layer. In the future home network

  9. Genetics Home Reference: fragile X-associated tremor/ataxia syndrome

    ... Share: Email Facebook Twitter Home Health Conditions FXTAS Fragile X-associated tremor/ataxia syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Fragile X-associated tremor/ataxia syndrome ( FXTAS ) is characterized by ...

  10. Linking Structure, Process, and Outcome to Improve Group Home Services for Foster Youth in California

    Green, Rex S.; Ellis, Peter T.

    2007-01-01

    The California Youth Connection obtained funding from two foundations to evaluate the performance of group homes serving foster youth in Alameda County, California, in order to inform state policy-making. The evaluation team initially included 14 foster youth that personally experienced group home living. Three inter-related aspects of service…

  11. Investigating the Link between Home-School Dissonance and Academic Cheating among High School Students

    Brown-Wright, Lynda; Tyler, Kenneth M.; Stevens-Watkins, Danelle; Thomas, Deneia; Mulder, Shambra; Hughes, Travonia; Stevens-Morgan, Ruby; Roan-Belle, Clarissa; Gadson, Nadia; Smith, La Toya

    2013-01-01

    The current study examined the association between home-school dissonance and academic cheating among 344 high school juniors and seniors at two urban high schools. Students completed two subscales of the Patterns of Adaptive Learning Scale (PALS) and one subscale of the Academic Motivation Scale (AMS). Analyses revealed that home-school…

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

    ... difference in gene activation is caused by a phenomenon called genomic imprinting. When genomic imprinting reduces the ... 2 links) Eunice Kennedy Shriver National Institute of Child Health and Human Development: Adrenal Gland Disorders National ...

  13. Genetics Home Reference: SCN8A-related epilepsy with encephalopathy

    ... Resources (6 links) Boston Children's Hospital: Epilepsy and Seizure Disorder in Children Centers for Disease Control and Prevention: ... related epilepsy with encephalopathy Merck Manual Consumer Version: Seizure Disorders Orphanet: Early infantile epileptic encephalopathy Patient Support and ...

  14. Quick Reference: Cyber Attacks Awareness and Prevention Method for Home Users

    Haydar Teymourlouei

    2015-01-01

    It is important to take security measures to protect your computer information, reduce identify theft, and prevent from malicious cyber-attacks. With cyber-attacks on the continuous rise, people need to understand and learn ways to prevent from these attacks. Cyber-attack is an important factor to be considered if one is to be able to protect oneself from malicious attacks. Without proper security measures, most computer technology would hinder home users more than such t...

  15. Linking home ranges to protected area size: The case study of the Mediterranean Sea

    Di Franco, Antonio; Plass-Johnson, Jeremiah Grahm; Di Lorenzo, Manfredi

    2018-01-01

    in the Mediterranean Sea, and related this to the size of 184 Mediterranean fully protected areas. We also investigated the influence of fully protected areas size on fish density in contrast to fished areas with respect to home ranges. Home range estimations were available for 11 species (10 fishes and 1 lobster......). The European spiny lobster Palinurus elephas had the smallest home range (0.0039 ± 0.0014 km2; mean ± 1 SE), while the painted comber Serranus scriba (1.1075 ± 0.2040 km2) had the largest. Approximately 25% of Mediterranean fully protected areas are larger than 2 times the size of the largest home range...

  16. Direct and indirect links between organizational work-home culture and employee well-being

    Beauregard, T. Alexandra

    2011-01-01

    The extent to which an organization's culture exhibits support for its employees' efforts to balance work and personal responsibilities has been shown to influence a number of work- and home-related outcomes. This study tests a model with a mix of mediated and moderated relationships to investigate direct and indirect routes by which work-home culture may affect employee well-being. Sex differences in these relationships are also explored. Data collected from public sector employees in the UK...

  17. The link between individual expectations and savings: Do nursing home expectations matter?

    Kleinjans, Kristin J.; Lee, Jinkook

    these expectations and savings behavior, using data from the Health and Retirement Study. We find a clear relation between subjective expectations and probability of future nursing home entry, and a positive effect of these expectations on savings behavior. Surprisingly, we find no difference of this effect...... by wealth group, so it seems that Medicaid eligibility in the context of nursing home entry plays no factor in the decision to save....

  18. Reference values for peak flow and FEV1 variation in healthy schoolchildren using home spirometry

    Brouwer, A. F. J.; Duiverman, E. J.; Brand, P. L. P.

    2008-01-01

    Current reference values for diurnal peak flow variation in healthy children (median 8.2%; 95th percentile 31%) are so high that considerable overlap exists with those of asthmatic children. These values have been obtained using written peak flow diaries, which are unreliable. The aim of the present

  19. Home

    intersect as Attack Wing leaders change roles The 112th COS postured as cyber shield for Pa. infrastructure 111th Attack Wing 111th Attack Wing 21st Century Guard Airmen Home News Photos Art Video Resources - The Balance Search 111th Attack Wing: COMMUNITY/ENVIRO May 16, 2018; Pa. Department of Health update

  20. How can we better capture food away from Home? Lessons from India's linking person-level meal and household-level food data.

    Fiedler, John L; Yadav, Suryakant

    2017-10-01

    Despite acknowledged shortcomings, household consumption and expenditure surveys (HCES) are increasingly being used to proxy food consumption because they are relatively more available and affordable than surveys using more precise dietary assessment methods. One of the most common, significant sources of HCES measurement error is their under-estimation of food away from home (FAFH). In 2011, India's National Survey Sample Organization introduced revisions in its HCES questionnaire that included replacing "cooked meals"-the single item in the food consumption module designed to capture FAFH at the household level-with five more detailed and explicitly FAFH sub-categories. The survey also contained a section with seven, household member-specific questions about meal patterns during the reference period and included three sources of meals away from home (MAFH) that overlapped three of the new FAFH categories. By providing a conceptual framework with which to organize and consider each household member's meal pattern throughout the reference period, and breaking down the recalling (or estimating) process into household member-specific responses, we assume the MAFH approach makes the key respondent's task less memory- and arithmetically-demanding, and thus more accurate than the FAFH household level approach. We use the MAFH estimates as a reference point, and approximate one portion of FAFH measurement error as the differences in MAFH and FAFH estimates. The MAFH estimates reveal marked heterogeneity in intra-household meal patterns, reflecting the complexity of the HCES's key informant task of reporting household level data, and underscoring its importance as a source of measurement error. We find the household level-based estimates of FAFH increase from just 60.4% of the individual-based estimates in the round prior to the questionnaire modifications to 96.7% after the changes. We conclude that the MFAH-FAFH linked approach substantially reduced FAFH measurement

  1. Coherence in consciousness: paralimbic gamma synchrony of self-reference links conscious experiences

    Lou, Hans C; Gross, Joachim; Biermann-Ruben, Katja

    2010-01-01

    . In minimal self-reference subjective experiences are self-aware in the weak sense that there is something it feels like for the subject to experience something. In autonoetic consciousness, consciousness emerges, by definition, by retrieval of memories of personally experienced events (episodic memory...

  2. Stream invertebrate productivity linked to forest subsidies: 37 stream-years of reference and experimental data

    J. Bruce Wallace; Susan L Eggert; Judy L. Meyer; Jackson R. Webster

    2015-01-01

    Riparian habitats provide detrital subsidies of varying quantities and qualities to recipient ecosystems. We used long-term data from three reference streams (covering 24 stream-years) and 13-year whole-stream organic matter manipulations to investigate the influence of terrestrial detrital quantity and quality on benthic invertebrate community structure, abundance,...

  3. Stream invertebrate productivity linked to forest subsidies: 37 stream-years of reference and experimental data.

    Wallace, J Bruce; Eggert, Susan L; Meyer, Judy L; Webster, Jackson R

    2015-05-01

    Riparian habitats provide detrital subsidies of varying quantities and qualities to recipient ecosystems. We used long-term data from three reference streams (covering 24 stream-years) and 13-year whole-stream organic matter manipulations to investigate the influence of terrestrial detrital quantity and quality on benthic invertebrate community structure, abundance, biomass, and secondary production in rockface (RF) and mixed substrates (MS) of forested headwater streams. Using a mesh canopy covering the entire treatment stream, we examined effects of litter ex'clusion, small- and large-wood removal, and addition of artificial wood (PVC) and leaves of varying quality on organic matter standing crops and invertebrate community structure and function. We assessed differences in functional feeding group distribution between substrate types as influenced by organic matter manipulations and long-term patterns of predator and prey production in manipulated vs. reference years. Particulate organic matter standing crops in MS of the treatment stream declined drastically with each successive year of litter exclusion, approaching zero after three years. Monthly invertebrate biomass and annual secondary production was positively related to benthic organic matter in the MS habitats. Rockface habitats exhibited fewer changes than MS habitats across all organic matter manipulations. With leaf addition, the patterns of functional group distribution among MS and RF habitats returned to patterns seen in reference streams. Secondary production per unit organic matter standing crop was greatest for the leaf addition period, followed by the reference streams, and significantly less for the litter exclusion and wood removal periods. These data indicate that the limited organic matter remaining in the stream following litter exclusion and wood removal was more refractory than that in the reference streams, whereas the added leaf material was more labile and readily converted into

  4. Variability of extragalactic sources: its contribution to the link between ICRF and the future Gaia Celestial Reference Frame

    Taris, F.; Damljanovic, G.; Andrei, A.; Souchay, J.; Klotz, A.; Vachier, F.

    2018-03-01

    Context. The first release of the Gaia catalog is available since 14 September 2016. It is a first step in the realization of the future Gaia reference frame. This reference frame will be materialized by the optical positions of the sources and will be compared with and linked to the International Celestial Reference Frame, materialized by the radio position of extragalactic sources. Aim. As in the radio domain, it can be reasonably postulated that quasar optical flux variations can alert us to potential changes in the source structure. These changes could have important implications for the position of the target photocenters (together with the evolution in time of these centers) and in parallel have consequences for the link of the reference systems. Methods: A set of nine optical telescopes was used to monitor the magnitude variations, often at the same time as Gaia, thanks to the Gaia Observation Forecast Tool. The Allan variances, which are statistical tools widely used in the atomic time and frequency community, are introduced. Results: This work describes the magnitude variations of 47 targets that are suitable for the link between reference systems. We also report on some implications for the Gaia catalog. For 95% of the observed targets, new information about their variability is reported. In the case of some targets that are well observed by the TAROT telescopes, the Allan time variance shows that the longest averaging period of the magnitudes is in the range 20-70 d. The observation period by Gaia for a single target largely exceeds these values, which might be a problem when the magnitude variations exhibit flicker or random walk noises. Preliminary computations show that if the coordinates of the targets studied in this paper were affected by a white-phase noise with a formal uncertainty of about 1 mas (due to astrophysical processes that are put in evidence by the magnitude variations of the sources), it would affect the precision of the link at the

  5. Exploring the link between organizational climate and the use of psychotropic medicines in nursing homes: A qualitative study.

    Sawan, Mouna; Jeon, Yun-Hee; Fois, Romano A; Chen, Timothy F

    Research concerning the overprescribing of psychotropic medicines in nursing homes suggests that organizational climate plays a significant role in the use of psychotropic medicines. Organizational climate refers to how members of the organization perceive their work environment as well as interactions with each other or outsiders. This study aimed to explore the key dimensions of organizational climate and their subsequent influence on the use of psychotropic medicines. Semi-structured interviews were conducted with 40 on-site and visiting staff from eight nursing homes in Sydney, Australia. Purposive sampling was used to recruit participants representing a broad range of health disciplines and roles. Transcripts were content coded for participants' perceptions related to the work environment and descriptions of psychotropic medicines use. Thematic analysis was used to derive key concepts. Three salient dimensions of organizational climate were linked to the use of psychotropic medicines in nursing homes: staffing, managerial expectations and teamwork among visiting and on-site staff. Inadequate staffing levels were perceived to influence on-site staff requests for initiation of psychotropic medicines to cope with high workload. Participants reported managers that prioritized the non-pharmacological management of behavioral disturbances led other on-site staff to have a reduced preference for psychotropic medicines. In addition, trust and open communication among on-site and visiting staff facilitated the cessation of psychotropic medicines. This study illustrates that organizational climate is an important factor influencing the use of psychotropic medicines. Furthermore, the study highlights what aspects of organizational climate need to be addressed to reduce the inappropriate prescribing of psychotropic medicines. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Medium-sized Universities Connect to Their Libraries: Links on University Home Pages and User Group Pages

    Pamela Harpel-Burk

    2006-03-01

    Full Text Available From major tasks—such as recruitment of new students and staff—to the more mundane but equally important tasks—such as providing directions to campus—college and university Web sites perform a wide range of tasks for a varied assortment of users. Overlapping functions and user needs meld to create the need for a Web site with three major functions: promotion and marketing, access to online services, and providing a means of communication between individuals and groups. In turn, college and university Web sites that provide links to their library home page can be valuable assets for recruitment, public relations, and for helping users locate online services.

  7. Genetics Home Reference: keratoconus

    ... we stand? J Ophthalmol. 2014;2014:641708. doi: 10.1155/2014/641708. Epub 2014 Aug 28. Review. Citation ... keratoconus. Biomed Res Int. 2015;2015:795738. doi: 10.1155/2015/795738. Epub 2015 May 17. Review. Citation ...

  8. Genetics Home Reference: pilomatricoma

    ... before birth, as well as the maintenance and repair of adult tissues. Among its many activities, beta-catenin appears to be necessary for the normal function of hair follicles . This protein is active in cells that make up a part of the hair ...

  9. Genetics Home Reference: citrullinemia

    ... belongs to a class of genetic diseases called urea cycle disorders. Learn more about the genes associated with citrullinemia ... GeneReview: Citrin Deficiency GeneReview: Citrullinemia Type I GeneReview: Urea Cycle Disorders Overview MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality National ...

  10. Genetics Home Reference: piebaldism

    ... 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 ...

  11. Genetics Home Reference: histidinemia

    ... Changes Histidinemia is caused by mutations in the HAL gene, which provides instructions for making an enzyme ... expressed) primarily in the liver and the skin . HAL gene mutations lead to the production of a ...

  12. Genetics Home Reference: microphthalmia

    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...

  13. Genetics Home Reference: coloboma

    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...

  14. Genetics Home Reference: achromatopsia

    ... 24 [updated 2016 Feb 25]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  15. Genetics Home Reference: galactosemia

    ... 4 [updated 2017 Mar 9]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  16. Genetics Home Reference: choroideremia

    ... out its protein escort function. This lack of functional REP-1 prevents Rab proteins from reaching and ... the cells of the retina causes the progressive vision loss characteristic of choroideremia . Learn more about the ...

  17. Genetics Home Reference: pseudoachondroplasia

    ... R, Susic M, Montufar-Solis D, Duke PJ, Cole WG. Chondrocyte cell death and intracellular distribution of ... a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides ...

  18. Genetics Home Reference: vitiligo

    ... SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  19. Genetics Home Reference: abetalipoproteinemia

    ... condition may also develop an eye disorder called retinitis pigmentosa , in which breakdown of the light-sensitive layer ( ... cause vision loss. In individuals with abetalipoproteinemia , the retinitis pigmentosa can result in complete vision loss. People with ...

  20. Genetics Home Reference: fibrochondrogenesis

    ... 2013 Oct 10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038. Epub 2013 Jul ... 2012 Dec 15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069. Epub 2012 Sep ... 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct ...

  1. Genetics Home Reference: neuroblastoma

    ... 2008 Oct 16;455(7215):967-70. doi: 10.1038/nature07398. Citation on PubMed Maris JM. Recent advances ... 2008 Oct 16;455(7215):930-5. doi: 10.1038/nature07261. Epub 2008 Aug 24. Citation on PubMed ...

  2. Genetics Home Reference: galactosialidosis

    ... Other symptoms seen in some individuals with this type include intellectual disability, hearing loss, and a cherry-red spot. Children ... somewhat different than those of the other two types. This form is ... intellectual disability. People with this form typically also have dark ...

  3. Genetics Home Reference: trimethylaminuria

    ... also be caused by other factors. The strong body odor may result from an excess of certain proteins ... of trimethylaminuria or experience temporary episodes of strong body odor. Related Information What does it mean if a ...

  4. Genetics Home Reference: neuroferritinopathy

    ... individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Related ...

  5. Genetics Home Reference: hemophilia

    ... 6(9):1517-24. Review. Citation on PubMed Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl ... Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of ...

  6. Genetics Home Reference: cholangiocarcinoma

    ... year in the United States. This type of cancer occurs much more frequently in Southeast Asian countries such as Thailand, where it is related to infection with a parasite that is common there. For unknown reasons, cholangiocarcinoma ...

  7. Genetics Home Reference: leprosy

    ... condition occurs worldwide, but is most common in India, Brazil, and other areas with warm climates. Between ... the differential clinical outcomes of leprosy. Infect Dis Poverty. 2017 Feb 6;6(1):5. doi: 10. ...

  8. Genetics Home Reference: sitosterolemia

    ... also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  9. Genetics Home Reference: aspartylglucosaminuria

    ... Sources for This Page Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim Biophys Acta. 1999 Oct ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  10. Genetics Home Reference: otulipenia

    ... Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, Mullikin JC, Güzel F, Milner JD, Boehm M, Rosenzweig SD, Gadina M, Welch SB, Özen S, Topaloglu R, Abinun M, Kastner DL, Aksentijevich I. Biallelic hypomorphic ...

  11. Genetics Home Reference: osteoarthritis

    ... damage is caused as the body attempts to repair and rebuild these tissues. The immune system, which plays a role in ... the result of the body's failed attempts to repair this damage. In healthy ... of the tissue. This balance is lost in osteoarthritis , leading to ...

  12. Genetics Home Reference: melorheostosis

    ... how do mutations occur? How can gene mutations affect health and development? More about Mutations and Health Inheritance Pattern This condition is not inherited from a parent, and it cannot be passed down to children. It arises from somatic mutations in bone cells ...

  13. Genetics Home Reference: trichothiodystrophy

    ... that affects many parts of the body. The hallmark of this condition is brittle hair that is ... the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do ...

  14. Genetics Home Reference: cystinosis

    ... is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. ... adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability ...

  15. Genetics Home Reference: acatalasemia

    ... and 1 in 25,000 people in Switzerland. The prevalence of acatalasemia in other populations is unknown. Related Information What information about a ... A new type of inherited catalase deficiencies: its characterization and comparison ... and Swiss type of acatalasemia. Blood Cells Mol Dis. 2001 Mar-Apr; ...

  16. Genetics Home Reference: narcolepsy

    ... brain called the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which have many important functions in the body. In particular, hypocretins regulate the daily sleep-wake cycle. It is unclear what triggers the death of ...

  17. Genetics Home Reference: bradyopsia

    ... 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- ...

  18. Genetics Home Reference: polymicrogyria

    ... the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and ...

  19. Genetics Home Reference: tyrosinemia

    ... individuals with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination ( ...

  20. Genetics Home Reference: homocystinuria

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  1. Genetics Home Reference: sialidosis

    ... called neuraminidase 1 (NEU1), which is found in lysosomes . Lysosomes are compartments within the cell that use enzymes ... is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to ...

  2. Genetics Home Reference: hyperprolinemia

    ... converting it to the amino acid glutamate. The conversion between proline and glutamate, and the reverse reaction ... Related Information What does it mean if a disorder seems to run in my family? What are ...

  3. Genetics Home Reference: desmosterolosis

    ... 2001 Aug 22. Citation on PubMed or Free article on PubMed Central Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and ...

  4. Genetics Home Reference: retinoblastoma

    ... Some studies suggest that additional genetic changes can influence the development of retinoblastoma ; these changes may help explain variations ... usually occurs in childhood, typically leading to the development of ... and there is no family history of the disease. Affected individuals are born ...

  5. Genetics Home Reference: erythromelalgia

    ... These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering ... legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, ...

  6. Genetics Home Reference: hypercholesterolemia

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  7. The Devil Is in the Details: Linking Home Buyout Policy, Practice, and Experience After Hurricane Sandy

    Sherri Brokopp Binder

    2016-12-01

    Full Text Available Federal housing recovery policy bounds many of the decisions made by households after a disaster. Within this policy domain, home buyout programs are increasingly used to encourage residents to permanently relocate out of areas considered at risk for future hazards. While buyouts offer homeowners and governments potential benefits, research exploring the impacts of these policies is limited. In this paper, we present an in-depth examination of the community experience of buyouts, a perspective that is noticeably lacking in the literature. Using data from two mixed-method empirical studies, we explored the implications of buyout program design and implementation for Oakwood Beach, New York, a community offered a buyout after Hurricane Sandy. We found that  design decisions made at program conception significantly impacted participants’ experience of the buyout, including their understanding of program goals and their progression through the buyout and relocation process. We conclude with recommendations for future buyouts, including increased inclusion of affected communities in the process of and pre-event planning for recovery, along with recommendations for future research.

  8. 77 FR 26183 - Technical Revisions To Update Reference to the Required Assessment Tool for State Nursing Homes...

    2012-05-03

    ... annual effect on the economy of $100 million or more or adversely affect in a material way the economy, a sector of the economy, productivity, competition, jobs, the environment, public health or safety, or..., Veterans State Nursing Home Care; 64.018, Sharing Specialized Medical Resources; 64.019, Veterans...

  9. Estimating length of stay in publicly-funded residential and nursing care homes: a retrospective analysis using linked administrative data sets.

    Steventon, Adam; Roberts, Adam

    2012-10-31

    Information about how long people stay in care homes is needed to plan services, as length of stay is a determinant of future demand for care. As length of stay is proportional to cost, estimates are also needed to inform analysis of the long-term cost effectiveness of interventions aimed at preventing admissions to care homes. But estimates are rarely available due to the cost of repeatedly surveying individuals. We used administrative data from three local authorities in England to estimate the length of publicly-funded care homes stays beginning in 2005 and 2006. Stays were classified into nursing home, permanent residential and temporary residential. We aggregated successive placements in different care home providers and, by linking to health data, across periods in hospital. The largest group of stays (38.9%) were those intended to be temporary, such as for rehabilitation, and typically lasted 4 weeks. For people admitted to permanent residential care, median length of stay was 17.9 months. Women stayed longer than men, while stays were shorter if preceded by other forms of social care. There was significant variation in length of stay between the three local authorities. The typical person admitted to a permanent residential care home will cost a local authority over £38,000, less payments due from individuals under the means test. These figures are not apparent from existing data sets. The large cost of care home placements suggests significant scope for preventive approaches. The administrative data revealed complexity in patterns of service use, which should be further explored as it may challenge the assumptions that are often made.

  10. Estimating length of stay in publicly-funded residential and nursing care homes: a retrospective analysis using linked administrative data sets

    Steventon Adam

    2012-10-01

    Full Text Available Abstract Background Information about how long people stay in care homes is needed to plan services, as length of stay is a determinant of future demand for care. As length of stay is proportional to cost, estimates are also needed to inform analysis of the long-term cost effectiveness of interventions aimed at preventing admissions to care homes. But estimates are rarely available due to the cost of repeatedly surveying individuals. Methods We used administrative data from three local authorities in England to estimate the length of publicly-funded care homes stays beginning in 2005 and 2006. Stays were classified into nursing home, permanent residential and temporary residential. We aggregated successive placements in different care home providers and, by linking to health data, across periods in hospital. Results The largest group of stays (38.9% were those intended to be temporary, such as for rehabilitation, and typically lasted 4 weeks. For people admitted to permanent residential care, median length of stay was 17.9 months. Women stayed longer than men, while stays were shorter if preceded by other forms of social care. There was significant variation in length of stay between the three local authorities. The typical person admitted to a permanent residential care home will cost a local authority over £38,000, less payments due from individuals under the means test. Conclusions These figures are not apparent from existing data sets. The large cost of care home placements suggests significant scope for preventive approaches. The administrative data revealed complexity in patterns of service use, which should be further explored as it may challenge the assumptions that are often made.

  11. Phonological loop affects children's interpretations of explicit but not ambiguous questions: Research on links between working memory and referent assignment.

    Meng, Xianwei; Murakami, Taro; Hashiya, Kazuhide

    2017-01-01

    Understanding the referent of other's utterance by referring the contextual information helps in smooth communication. Although this pragmatic referential process can be observed even in infants, its underlying mechanism and relative abilities remain unclear. This study aimed to comprehend the background of the referential process by investigating whether the phonological loop affected the referent assignment. A total of 76 children (43 girls) aged 3-5 years participated in a reference assignment task in which an experimenter asked them to answer explicit (e.g., "What color is this?") and ambiguous (e.g., "What about this?") questions about colorful objects. The phonological loop capacity was measured by using the forward digit span task in which children were required to repeat the numbers as an experimenter uttered them. The results showed that the scores of the forward digit span task positively predicted correct response to explicit questions and part of the ambiguous questions. That is, the phonological loop capacity did not have effects on referent assignment in response to ambiguous questions that were asked after a topic shift of the explicit questions and thus required a backward reference to the preceding explicit questions to detect the intent of the current ambiguous questions. These results suggest that although the phonological loop capacity could overtly enhance the storage of verbal information, it does not seem to directly contribute to the pragmatic referential process, which might require further social cognitive processes.

  12. Phonological loop affects children's interpretations of explicit but not ambiguous questions: Research on links between working memory and referent assignment.

    Xianwei Meng

    Full Text Available Understanding the referent of other's utterance by referring the contextual information helps in smooth communication. Although this pragmatic referential process can be observed even in infants, its underlying mechanism and relative abilities remain unclear. This study aimed to comprehend the background of the referential process by investigating whether the phonological loop affected the referent assignment. A total of 76 children (43 girls aged 3-5 years participated in a reference assignment task in which an experimenter asked them to answer explicit (e.g., "What color is this?" and ambiguous (e.g., "What about this?" questions about colorful objects. The phonological loop capacity was measured by using the forward digit span task in which children were required to repeat the numbers as an experimenter uttered them. The results showed that the scores of the forward digit span task positively predicted correct response to explicit questions and part of the ambiguous questions. That is, the phonological loop capacity did not have effects on referent assignment in response to ambiguous questions that were asked after a topic shift of the explicit questions and thus required a backward reference to the preceding explicit questions to detect the intent of the current ambiguous questions. These results suggest that although the phonological loop capacity could overtly enhance the storage of verbal information, it does not seem to directly contribute to the pragmatic referential process, which might require further social cognitive processes.

  13. How to keep a reference ontology relevant to the industry: A case study from the smart home

    Daniele, L.; Hartog, F. den; Roes, J.

    2016-01-01

    The Smart Appliance REFerence ontology (SAREF) is a shared model of consensus developed in close interaction with the industry to enable semantic interoperability for smart appliances. Smart appliances are intelligent and networked devices that accomplish some household functions, such as cleaning

  14. Reference quality assembly of the 3.5 Gb genome of Capsicum annuum form a single linked-read library

    Linked-Read sequencing technology has recently been employed successfully for de novo assembly of multiple human genomes, however the utility of this technology for complex plant genomes is unproven. We evaluated the technology for this purpose by sequencing the 3.5 gigabase (Gb) diploid pepper (Cap...

  15. Developing a System of Protection for Young Children in Uruguay: Understanding the Link between the Home Environment and Child Development

    Lopez Boo, Florencia; Cubides Mateus, Mayaris; Sorio, Rita; Garibotto, Giorgina; Berón, Christian

    2018-01-01

    Uruguay is making great progress in improving the lives of its youngest children. A national longitudinal early childhood-focused household survey has been, and will continue to be, an important tool for identifying concerns and targeting interventions. In a study of the home environment, the authors found that children from lower income…

  16. Home birth and barriers to referring women with obstetric complications to hospitals: a mixed-methods study in Zahedan, southeastern Iran

    Ghazi Tabatabaie Mahmoud

    2012-03-01

    Full Text Available Abstract Background One factor that contributes to high maternal mortality in developing countries is the delayed use of Emergency Obstetric-Care (EmOC facilities. The objective of this study was to determine the factors that hinder midwives and parturient women from using hospitals when complications occur during home birth in Sistan and Baluchestan province, Iran, where 23% of all deliveries take place in non- hospital settings. Methods In the study and data management, a mixed-methods approach was used. In the quantitative phase, we compared the existing health-sector data with World Health Organization (WHO standards for the availability and use of EmOC services. The qualitative phase included collection and analysis of interviews with midwives and traditional birth attendants and twenty-one in-depth interviews with mothers. The data collected in this phase were managed according to the principles of qualitative data analysis. Results The findings demonstrate that three distinct factors lead to indecisiveness and delay in the use of EmOC by the midwives and mothers studied. Socio-cultural and familial reasons compel some women to choose to give birth at home and to hesitate seeking professional emergency care for delivery complications. Apprehension about being insulted by physicians, the necessity of protecting their professional integrity in front of patients and an inability to persuade their patients lead to an over-insistence by midwives on completing deliveries at the mothers' homes and a reluctance to refer their patients to hospitals. The low quality and expense of EmOC and the mothers' lack of health insurance also contribute to delays in referral. Conclusions Women who choose to give birth at home accept the risk that complications may arise. Training midwives and persuading mothers and significant others who make decisions about the value of referring women to hospitals at the onset of life-threatening complications are central

  17. Home birth and barriers to referring women with obstetric complications to hospitals: a mixed-methods study in Zahedan, southeastern Iran

    2012-01-01

    Background One factor that contributes to high maternal mortality in developing countries is the delayed use of Emergency Obstetric-Care (EmOC) facilities. The objective of this study was to determine the factors that hinder midwives and parturient women from using hospitals when complications occur during home birth in Sistan and Baluchestan province, Iran, where 23% of all deliveries take place in non- hospital settings. Methods In the study and data management, a mixed-methods approach was used. In the quantitative phase, we compared the existing health-sector data with World Health Organization (WHO) standards for the availability and use of EmOC services. The qualitative phase included collection and analysis of interviews with midwives and traditional birth attendants and twenty-one in-depth interviews with mothers. The data collected in this phase were managed according to the principles of qualitative data analysis. Results The findings demonstrate that three distinct factors lead to indecisiveness and delay in the use of EmOC by the midwives and mothers studied. Socio-cultural and familial reasons compel some women to choose to give birth at home and to hesitate seeking professional emergency care for delivery complications. Apprehension about being insulted by physicians, the necessity of protecting their professional integrity in front of patients and an inability to persuade their patients lead to an over-insistence by midwives on completing deliveries at the mothers' homes and a reluctance to refer their patients to hospitals. The low quality and expense of EmOC and the mothers' lack of health insurance also contribute to delays in referral. Conclusions Women who choose to give birth at home accept the risk that complications may arise. Training midwives and persuading mothers and significant others who make decisions about the value of referring women to hospitals at the onset of life-threatening complications are central factors to increasing the use

  18. Association between home visiting interventions and First Nations families' health and social outcomes in Manitoba, Canada: protocol for a study of linked population-based administrative data.

    Brownell, Marni D; Nickel, Nathan C; Enns, Jennifer E; Chartier, Mariette; Campbell, Rhonda; Phillips-Beck, Wanda; Chateau, Dan; Burland, Elaine; Santos, Rob; Katz, Alan

    2017-10-10

    First Nations people are descendants of Canada's original inhabitants. In consequence of historical and ongoing structural injustices, many First Nations families struggle with challenging living conditions, including high rates of poverty, poor housing conditions, mental illness and social isolation. These risk factors impede caregivers' abilities to meet their children's basic physical and psychosocial needs. Home visiting programmes were developed to support child developmental health in families facing parenting challenges. However, whether home visiting is an effective intervention for First Nations families has not been examined. We are evaluating two home visiting programmes in Manitoba, Canada, to determine whether they promote nurturing family environments for First Nations children. This research builds on new and established relationships among academic researchers, government decision-makers and First Nations stakeholders. We will link health, education and social services data from the Manitoba Population Research Data Repository to data from two home visiting programmes in Manitoba. Logistic regression modelling will be used to assess whether programme participation is associated with improved child developmental health, better connections between families and social services, reduced instances of child maltreatment and being taken into out-of-home care by child welfare and reduced inequities for First Nations families. Non-participating individuals with similar sociodemographic characteristics will serve as comparators. We will use an interrupted time series approach to test for differences in outcomes before and after programme implementation and a propensity score analysis to compare differences between participants and non-participants. Approvals were granted by the Health Information Research Governance Committee of the First Nations Health and Social Secretariat of Manitoba and the University of Manitoba Health Research Ethics Board. Our

  19. [Efficacy of agreements within the Enchede Stroke Service to refer patients with a stroke from the stroke unit in the hospital to a nursing home for short-term rehabilitation

    Nijmeijer, N.M.; Stegge, B.M. aan de; Zuidema, S.U.; Sips, H.J.W.; Brouwers, P.J.

    2005-01-01

    OBJECTIVE: To assess the efficacy of agreements within the Enschede Stroke Service to refer patients with a stroke from the stroke unit in the hospital to a nursing home for short-term rehabilitation. DESIGN: Prospective, partly retrospective. METHOD: All patients who were referred from the stroke

  20. Midwives' experiences of referring obese women to either a community or home-based antenatal weight management service: Implications for service providers and midwifery practice.

    Atkinson, Lou; French, David P; Ménage, Diane; Olander, Ellinor K

    2017-06-01

    a variety of services to support women to undertake weight management behaviours during pregnancy have recently been implemented as a means to reduce the risks to mother and infant. In the UK, midwives lead the care of the majority of pregnant women and are seen as the ideal source of referral into antenatal services. However, midwives have reported concerns regarding raising the topic of weight with obese women and negative referral experiences have been cited as a reason not to engage with a service. This study explored midwives' experiences of referring women to one of two antenatal weight management services. qualitative, cross-sectional interview and focus group study, with data analysed thematically. midwifery teams in the West Midlands, England. midwives responsible for referring to either a home-based, one to one service (N=12), or a community-based, group service (N=11). four themes emerged from the data. Participants generally had a positive View of the service, but their Information needs were not fully met, as they wanted more detail about the service and feedback regarding the women they had referred. Approaches to referral differed, with some participants referring all women who met the eligibility criteria, and some offering women a choice to be referred or not. Occasionally the topic was not raised at all when a negative reception was anticipated. Reasons for poor uptake of the services included pragmatic barriers, and their perception of women's lack of interest in weight management. midwives' differing views on choice and gaining agreement to refer means referral practices vary, which could increase the risk that obese women have inequitable access to weight management services. However, midwives' confidence in the services on offer may be increased with more detailed information about the service and feedback on referrals, which would additionally act as prompts to refer. weight management services need to improve communication with their

  1. Improving community development by linking agriculture, nutrition and education: design of a randomised trial of "home-grown" school feeding in Mali.

    Masset, Edoardo; Gelli, Aulo

    2013-02-21

    Providing food through schools has well documented effects in terms of the education, health and nutrition of school children. However, there is limited evidence in terms of the benefits of providing a reliable market for small-holder farmers through "home-grown" school feeding approaches. This study aims to evaluate the impact of school feeding programmes sourced from small-holder farmers on small-holder food security, as well as on school children's education, health and nutrition in Mali. In addition, this study will examine the links between social accountability and programme performance. This is a field experiment planned around the scale-up of the national school feeding programme, involving 116 primary schools in 58 communities in food insecure areas of Mali. The randomly assigned interventions are: 1) a school feeding programme group, including schools and villages where the standard government programme is implemented; 2) a "home-grown" school feeding and social accountability group, including schools and villages where the programme is implemented in addition to training of community based organisations and local government; and 3) the control group, including schools and household from villages where the intervention will be delayed by at least two years, preferably without informing schools and households. Primary outcomes include small-holder farmer income, school participation and learning, and community involvement in the programme. Other outcomes include nutritional status and diet-diversity. The evaluation will follow a mixed method approach, including household, school and village level surveys as well as focus group discussions with small-holder farmers, school children, parents and community members. The impact evaluation will be incorporated within the national monitoring and evaluation (M&E) system strengthening activities that are currently underway in Mali. Baselines surveys are planned for 2012. A monthly process monitoring visits, spot

  2. Relationship between out-of-home care placement history characteristics and educational achievement: A population level linked data study.

    Maclean, Miriam J; Taylor, Catherine L; O'Donnell, Melissa

    2017-08-01

    Studies generally show children who have entered out-of-home care have worse educational outcomes than the general population, although recent research suggests maltreatment and other adversities are major contributing factors. Children's out-of-home care experiences vary and may affect their outcomes. This study examined the influence of placement stability, reunification, type of care, time in care and age at entry to care on children's educational outcomes. We conducted a population-based record-linkage study of children born in Western Australia between 1990 and 2010 who sat State or national Year 3 reading achievement tests (N=235,045 children, including 2160 children with a history of out-of-home care). Children's educational outcomes varied with many aspects of their care experience. Children placed in residential care were particularly likely to have low scores, with an unadjusted OR 6.81, 95% CI[4.94, 9.39] for low reading scores, which was partially attenuated after adjusting for background risk factors but remained significant (OR=1.50, 95% CIs [1.08, 2.08]). Reading scores were also lower for children who had experienced changes in care arrangements in the year of the test. A dose-response effect for multiple placements was expected but not found. Older age at entering care was also associated with worse reading scores. Different characteristics of a child's care history were interwoven with each other as well as child, family and neighbourhood characteristics, highlighting a need for caution in attributing causality. Although the level of educational difficulties varied, the findings suggest a widespread need for additional educational support for children who have entered care, including after reunification. Copyright © 2017 Elsevier Ltd. All rights reserved.

  3. Closing the Energy Efficiency Gap: A study linking demographics with barriers to adopting energy efficiency measures in the home

    Pelenur, Marcos J.; Cruickshank, Heather J.

    2012-01-01

    This paper presents a study which linked demographic variables with barriers affecting the adoption of domestic energy efficiency measures in large UK cities. The aim was to better understand the ‘Energy Efficiency Gap’ and improve the effectiveness of future energy efficiency initiatives. The data for this study was collected from 198 general population interviews (1.5–10 min) carried out across multiple locations in Manchester and Cardiff. The demographic variables were statistically linked to the identified barriers using a modified chi-square test of association (first order Rao–Scott corrected to compensate for multiple response data), and the effect size was estimated with an odds-ratio test. The results revealed that strong associations exist between demographics and barriers, specifically for the following variables: sex; marital status; education level; type of dwelling; number of occupants in household; residence (rent/own); and location (Manchester/Cardiff). The results and recommendations were aimed at city policy makers, local councils, and members of the construction/retrofit industry who are all working to improve the energy efficiency of the domestic built environment. -- Highlights: ► 7 demographic variables linked to 8 barriers to adopting energy efficiency measures. ► A modified chi-square test for association was used (first order Rao–Scott corrected). ► Results revealed strong associations between most of the demographics and barriers. ► Data was collected from 198 interviews in the UK cities of Manchester and Cardiff. ► Specific recommendations are presented for regional policy makers and industry.

  4. Linking Spiritual and Religious Coping With the Quality of Life of Community-Dwelling Older Adults and Nursing Home Residents

    Luciano Magalhães Vitorino BSN, MSc

    2016-07-01

    Full Text Available Objective: This study examined the effect of Positive and Negative Spiritual and Religious Coping (SRC upon older Brazilian’s quality of life (QOL. Method: A secondary analysis of data collected from 77 nursing home residents (NHRs; M age = 76.56 and 326 community-dwelling residents (CDRs; M age = 67.22 years was conducted. Participants had completed the Brief SRC, and the World Health Organization Quality of Life-BREF (WHOQOL-BREF and World Health Organization Quality of Life-OLD (WHOQOL-OLD. A General Linear Model regression analysis was undertaken to assess the effects of SRC upon 10 aspects of participants’ QOL. Results: Positive ( F = 6.714, df = 10, p < .001 as opposed to Negative ( F = 1.194, df = 10, p = .294 SRC was significantly associated with QOL. Positive SRC was more strongly associated with NHR’s physical, psychological, and environmental QOL, and their perceived sensory abilities, autonomy, and opportunities for intimacy. Conclusion: Positive SRC behaviors per se were significantly associated with QOL ratings across both study samples. The effect size of Positive SRC was much larger among NHRs across six aspects of QOL. Place of residence (POR in relation to SRC and QOL in older age warrants further study.

  5. Genetics Home Reference: Barth syndrome

    ... intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles. Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in ...

  6. Genetics Home Reference: Clouston syndrome

    ... Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb; ...

  7. Genetics Home Reference: anauxetic dysplasia

    ... complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP. The RNase MRP enzyme is thought to be involved in several ... RNA produced from the gene, and the RNase MRP enzyme containing the altered noncoding RNA is impaired ...

  8. Genetics Home Reference: Schindler disease

    ... childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  9. Genetics Home Reference: ADNP syndrome

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  10. Genetics Home Reference: psoriatic arthritis

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  11. Genetics Home Reference: prothrombin thrombophilia

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  12. Genetics Home Reference: Noonan syndrome

    ... growth spurt that results in shortened stature. Most males with Noonan syndrome have undescended testes (cryptorchidism), which may contribute to infertility (inability to father a child) later in life. Females with Noonan syndrome can experience delayed puberty but ...

  13. Genetics Home Reference: ethylmalonic encephalopathy

    ... 0004.2010.01457.x. Citation on PubMed García-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas ... R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard ...

  14. Genetics Home Reference: Dent disease

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  16. Genetics Home Reference: Tietz syndrome

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  17. Genetics Home Reference: Sandhoff disease

    ... Cooper A, Ferrie CD. Juvenile Sandhoff disease--nine new cases and a review of the literature. J Inherit Metab Dis. 2004;27(2):241-9. Review. Citation on PubMed Tay SK, Low PS, Ong HT, Loke KY. Sandhoff disease--a case report of 3 siblings and a review of potential therapies. Ann Acad ...

  18. Genetics Home Reference: Lynch syndrome

    ... Genetic Changes Variations in the MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM gene increase the risk of developing Lynch syndrome . The MLH1 , MSH2 , MSH6 , and PMS2 genes are involved in the repair of errors ...

  19. Genetics Home Reference: fumarase deficiency

    ... V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350- ...

  20. Genetics Home Reference: Roberts syndrome

    ... feet are located very close to the body (phocomelia). People with Roberts syndrome may also have abnormal ... may live into adulthood. A condition called SC phocomelia syndrome was originally thought to be distinct from ...

  1. Genetics Home Reference: craniofacial microsomia

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  2. Genetics Home Reference: Poland syndrome

    ... hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together ( ... cases, severely affected individuals have abnormalities of internal organs such as a lung or a kidney, or ...

  3. Genetics Home Reference: Leigh syndrome

    ... Syndrome Overview. 2015 Oct 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  4. Genetics Home Reference: pachyonychia congenita

    ... 27 [updated 2014 Jul 24]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  5. Genetics Home Reference: primary hyperoxaluria

    ... 19 [updated 2014 Jul 17]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  6. Genetics Home Reference: Stickler syndrome

    ... 9 [updated 2017 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  7. Genetics Home Reference: Werner syndrome

    ... 2 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  8. Genetics Home Reference: campomelic dysplasia

    ... 31 [updated 2013 May 9]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  9. Genetics Home Reference: myotonic dystrophy

    ... 17 [updated 2015 Oct 22]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  10. Genetics Home Reference: oculocutaneous albinism

    ... 17 [updated 2017 Sep 7]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  11. Genetics Home Reference: Timothy syndrome

    ... 15 [updated 2015 Jul 16]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  12. Genetics Home Reference: xeroderma pigmentosum

    ... 20 [updated 2016 Sep 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  13. Genetics Home Reference: cystic fibrosis

    ... 26 [updated 2017 Feb 2]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  14. Genetics Home Reference: cutis laxa

    ... 9 [updated 2016 Aug 18]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  15. Genetics Home Reference: Pendred syndrome

    ... 28 [updated 2014 May 29]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  16. Genetics Home Reference: Wagner syndrome

    ... 3 [updated 2016 Jan 7]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): ...

  17. Genetics Home Reference: Caffey disease

    ... Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J ...

  18. Genetics Home Reference: osteogenesis imperfecta

    ... 2008 Jul;40(7):927. Citation on PubMed Cole WG. Advances in osteogenesis imperfecta. Clin Orthop Relat ... medicine? What is newborn screening? New Pages Lyme disease Fibromyalgia White-Sutton syndrome All New & Updated Pages ...

  19. Genetics Home Reference: dystonia 6

    ... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

  20. Genetics Home Reference: Sotos syndrome

    ... gene are the primary cause of Sotos syndrome , accounting for up to 90 percent of cases. Other ... Sotos syndrome cases occur in people with no history of the disorder in their family. Most of ...

  1. Genetics Home Reference: Perrault syndrome

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  2. Genetics Home Reference: Fraser syndrome

    ... FRAS1 gene mutations are the most common cause, accounting for about half of cases of Fraser syndrome . ... Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse ...

  3. Genetics Home Reference: multiminicore disease

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  4. Genetics Home Reference: proopiomelanocortin deficiency

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  5. Genetics Home Reference: Refsum disease

    ... disease is caused by an eye disorder called retinitis pigmentosa . This disorder affects the retina , the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...

  6. Genetics Home Reference: acromicric dysplasia

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  7. Genetics Home Reference: cleidocranial dysplasia

    ... motor skills such as crawling and walking, but intelligence is unaffected. Related Information What does it mean ... Pawlowska E, Blasiak J. RUNX2: A Master Bone Growth Regulator That May Be Involved in the DNA ...

  8. Genetics Home Reference: Larsen syndrome

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  9. Genetics Home Reference: oculodentodigital dysplasia

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  10. Genetics Home Reference: Grange syndrome

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  11. Genetics Home Reference: Jacobsen syndrome

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  12. Genetics Home Reference: thanatophoric dysplasia

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  13. Genetics Home Reference: Glanzmann thrombasthenia

    ... Aug 8. Review. Citation on PubMed or Free article on PubMed Central Pillitteri D, Pilgrimm AK, Kirchmaier CM. Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37( ...

  14. Genetics Home Reference: tetrahydrobiopterin deficiency

    ... 1-16. Review. Citation on PubMed or Free article on PubMed Central Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin ...

  15. Genetics Home Reference: cap myopathy

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  16. Genetics Home Reference: celiac disease

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  17. Genetics Home Reference: Liddle syndrome

    ... 3. Citation on PubMed Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  18. Genetics Home Reference: Andermann syndrome

    ... FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  19. Genetics Home Reference: Muenke syndrome

    ... Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome ( ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  20. Genetics Home Reference: Renpenning syndrome

    ... 21. Citation on PubMed Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  1. Genetics Home Reference: Alagille syndrome

    ... abnormalities. This combination of heart defects is called tetralogy of Fallot . People with Alagille syndrome may have distinctive facial ... the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do ...

  2. Genetics Home Reference: metatropic dysplasia

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  3. Genetics Home Reference: Mabry syndrome

    ... 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 ...

  4. Genetics Home Reference: centronuclear myopathy

    ... 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul ... 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul ... Disord. 2010 Apr;20(4):223-8. doi: 10.1016/j.nmd.2010.01.014. Epub 2010 Feb ...

  5. Genetics Home Reference: Robinow syndrome

    ... 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar ... 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar ... 16. pii: S0002-9297(17)30422-6. doi: 10.1016/j.ajhg.2017.10.002. [Epub ahead of ...

  6. Genetics Home Reference: malignant hyperthermia

    ... 1722-30. Review. Citation on PubMed 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 ...

  7. Genetics Home Reference: fundus albipunctatus

    ... Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T. Lack of autofluorescence in fundus albipunctatus associated ... Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundus albipunctatus associated with compound heterozygous mutations ...

  8. Genetics Home Reference: prostate cancer

    ... Jan;73(2):169-75. doi: 10.1002/pros.22552. Epub 2012 Jun 21. Citation on PubMed or Free article on PubMed Central Nakagawa H. Prostate cancer genomics by high-throughput technologies: genome-wide association study and sequencing analysis. Endocr ...

  9. Genetics Home Reference: Danon disease

    ... are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays ... Page Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011 Jun;13( ...

  10. Genetics Home Reference: Krabbe disease

    ... breaks down certain fats called galactolipids. One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important ... the production of myelin, is toxic if not broken down by galactosylceramidase. GALC gene mutations severely reduce ...

  11. Genetics Home Reference: ovarian cancer

    ... is most often associated with mutations in the MLH1 or MSH2 gene and accounts for between 10 ... AKT1 BARD1 BRCA1 BRCA2 BRIP1 CDH1 CHEK2 CTNNB1 MLH1 MRE11 MSH2 MSH6 NBN OPCML PALB2 PIK3CA PMS2 ...

  12. Genetics Home Reference: methylmalonic acidemia

    ... Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens ... patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr;154(4):551-6. ...

  13. Genetics Home Reference: WAGR syndrome

    ... the chromosome 11 deletion includes an additional gene, BDNF . This gene is active (expressed) in the brain ... nerve cells ( neurons ). The protein produced from the BDNF gene is thought to be involved in the ...

  14. Genetics Home Reference: Wolfram syndrome

    ... important in the pancreas , where the protein is thought to help process a protein called proinsulin into the mature hormone ... individuals. The death of cells in other body systems likely causes the various signs and symptoms of ...

  15. Genetics Home Reference: dihydropyrimidinase deficiency

    ... pyrimidines also impedes the final step of the process, which produces molecules called beta-aminoisobutyric acid and beta-alanine. Both of these molecules are thought to protect the nervous system and help it function properly. Reduced production of ...

  16. Genetics Home Reference: Miller syndrome

    ... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  17. Genetics Home Reference: lactose intolerance

    ... Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  18. Genetics Home Reference: nemaline myopathy

    ... deformities, abnormal curvature of the spine ( scoliosis ), and joint deformities (contractures). Most people with nemaline myopathy are ... Centre for Rare Diseases Washington University, St. Louis: Neuromuscular Disease Center Patient Support and Advocacy Resources (3 ...

  19. Genetics Home Reference: pontocerebellar hypoplasia

    ... PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and ... InfoSearch: Pontocerebellar hypoplasia type 6 MalaCards: pontocerebellar hypoplasia Neuromuscular Disease Center, Washington University, St. Louis: Pontocerebellar Hypoplasia ...

  20. Genetics Home Reference: Angelman syndrome

    ... Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet ... article on PubMed Central Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin ...

  1. Genetics Home Reference: Partington syndrome

    ... Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. ARX polyalanine ... The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review. ...

  2. Genetics Home Reference: Down syndrome

    ... called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual ... Kennedy Shriver National Institute of Child Health and Human Development GeneEd National Human Genome Research Institute National ...

  3. Genetics Home Reference: blepharocheilodontic syndrome

    ... and mouth. This protein is involved in the attachment of cells to one another (cell adhesion). The p120-catenin protein helps keep E-cadherin in its proper place in the cell membrane, preventing it from being ...

  4. Genetics Home Reference: Brody myopathy

    ... 1 (SERCA1). The SERCA1 enzyme is found in skeletal muscle cells, specifically in the membrane of a structure called the sarcoplasmic reticulum . This structure plays a major role in muscle contraction and relaxation by storing and releasing positively charged ...

  5. Genetics Home Reference: surfactant dysfunction

    ... sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen ...

  6. Genetics Home Reference: Gilbert syndrome

    ... instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with ... to conjugated bilirubin. Glucuronidation makes bilirubin dissolvable in water so that it can be removed from the ...

  7. Genetics Home Reference: trisomy 18

    ... Hallahan T, Jackson L; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  8. Genetics Home Reference: Fanconi anemia

    ... Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. Review. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  9. Genetics Home Reference: ankylosing spondylitis

    ... Helmick CG, Felson DT, Lawrence RC, Gabriel S, Hirsch R, Kwoh CK, Liang MH, Kremers HM, Mayes MD, Merkel PA, Pillemer SR, Reveille JD, Stone JH; National Arthritis Data Workgroup. Estimates of the ...

  10. Genetics Home Reference: CHARGE syndrome

    ... syndrome are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). Abnormalities of external genitalia are seen less often in affected females. Puberty can be incomplete or delayed in affected males ...

  11. Genetics Home Reference: frontonasal dysplasia

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  12. Genetics Home Reference: essential thrombocythemia

    ... splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. ... deficiency Depression Pelizaeus-Merzbacher-like disease type 1 All New & ...

  13. Genetics Home Reference: Stormorken syndrome

    ... ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). Related Information What does it mean if a ... new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5): ...

  14. Genetics Home Reference: Kawasaki disease

    ... how do mutations occur? How can gene mutations affect health and development? More about ... but the inheritance pattern is unknown. Children of parents who have had Kawasaki disease have twice the ...

  15. Genetics Home Reference: Tangier disease

    ... Maxfield FR, Tabas I. Role of cholesterol and lipid organization in disease. Nature. 2005 Dec 1;438(7068):612-21. ... Hubácek JA. ATP-binding cassette (ABC) transporters in human metabolism and diseases. Physiol Res. 2004;53(3):235-43. Review. ...

  16. Genetics Home Reference: familial dysautonomia

    ... of developmental delay. Additional signs and symptoms in school-age children include bed wetting, episodes of vomiting, reduced sensitivity to temperature changes and pain, poor balance, abnormal curvature of ...

  17. Genetics Home Reference: encephalocraniocutaneous lipomatosis

    ... and they vary widely among affected individuals. A hallmark feature of ECCL is a noncancerous tumor under ... increased risk of developing a type of brain cancer called a glioma. The brain and spinal cord ...

  18. Genetics Home Reference: Joubert syndrome

    ... such as Ashkenazi Jewish, French-Canadian, and Hutterite populations. Related Information What information about a genetic condition ... of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. ...

  19. Genetics Home Reference: genitopatellar syndrome

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  20. Genetics Home Reference: Hartsfield syndrome

    ... the hands and feet called ectrodactyly. During early development before birth, the brain normally divides into two halves, the right and left hemispheres . Holoprosencephaly occurs when the brain fails to ...

  1. Genetics Home Reference: acrocallosal syndrome

    ... callosum occurs when the tissue that connects the left and right halves of the brain (the corpus callosum ) fails to form normally during the early stages of development before birth. Other brain abnormalities, including the growth ...

  2. Genetics Home Reference: nonsyndromic holoprosencephaly

    ... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

  3. Genetics Home Reference: hereditary hemochromatosis

    ... Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in ... about the genes associated with hereditary hemochromatosis HAMP HFE HJV PNPLA3 SLC40A1 TFR2 Related Information What is a gene? What is a gene mutation and how do ...

  4. Genetics Home Reference: Crohn disease

    ... JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1; ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  5. Genetics Home Reference: cranioectodermal dysplasia

    ... Citation on PubMed Taschner M, Bhogaraju S, Lorentzen E. Architecture and function of IFT complex proteins in ciliogenesis. ... Health & Human Services National Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical ...

  6. Genetics Home Reference: Gillespie syndrome

    ... generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue ... syndrome is unknown. Only a few dozen affected individuals have been described in the medical ... accounts for about 2 percent of cases of aniridia . ...

  7. Genetics Home Reference: prion disease

    ... which have overlapping signs and symptoms, include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and fatal ... Sc . Sporadic forms of prion disease include sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia (sFI), and variably protease- ...

  8. Genetics Home Reference: Kallmann syndrome

    ... in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected mother or father . Other cases result from new mutations in the ...

  9. Genetics Home Reference: parathyroid cancer

    ... skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading ... Institute: Parathyroid Cancer Treatment PDQ National Institute of Diabetes and Digestive and Kidney Diseases: Primary Hyperparathyroidism Educational ...

  10. Genetics Home Reference: Greenberg dysplasia

    ... of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows ... this loss causes the condition. Absence of the sterol reductase function disrupts the normal synthesis of cholesterol within cells. This absence may also ...

  11. Genetics Home Reference: Raynaud phenomenon

    ... about 15 minutes after the cold exposure or stressor has ended and involves mild discomfort such as ... condition, occurring in 3 to 5 percent of adults worldwide. It is more common in females than ...

  12. Genetics Home Reference: ocular albinism

    ... structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and ... Accessibility FOIA Viewers & Players U.S. Department of Health & Human Services National Institutes of Health National Library of ...

  13. Genetics Home Reference: propionic acidemia

    ... Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani ... Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani ...

  14. Genetics Home Reference: schizoaffective disorder

    ... the body's daily ( circadian ) rhythms, such as the sleep-wake cycle; others that help control the movement (migration) of nerve cells during brain development; and still others involved in sending and receiving chemical signals in the brain. In particular, several genes ...

  15. Genetics Home Reference: Dupuytren contracture

    ... contract. The increased number of myofibroblasts in this disorder cause abnormal contraction of the fascia and produce excess amounts ... protein called type III collagen. The combination of abnormal contraction and excess type III ... risk factors for developing Dupuytren contracture may ...

  16. Genetics Home Reference: Canavan disease

    ... aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspected that ... in the transport of water molecules out of neurons. Mutations in the ASPA gene reduce the function of aspartoacylase, which prevents the normal breakdown of ...

  17. Genetics Home Reference: MEGDEL syndrome

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  18. Genetics Home Reference: CLPB deficiency

    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  19. Genetics Home Reference: hidradenitis suppurativa

    ... 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. ...

  20. Genetics Home Reference: Omenn syndrome

    ... immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. Erratum in: Front ... immunodeficiency. Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. Erratum in: Front ...

  1. Genetics Home Reference: familial erythrocytosis

    ... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

  2. Genetics Home Reference: Klinefelter syndrome

    ... usual. Testosterone is the hormone that directs male sexual development before birth and during puberty. A shortage of ... genes on the X chromosome interfere with male sexual development, often preventing the testes from functioning normally and ...

  3. Genetics Home Reference: spina bifida

    ... a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, ...

  4. Genetics Home Reference: Meckel syndrome

    ... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with ...

  5. Genetics Home Reference: spondylocostal dysostosis

    ... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur ...

  6. Genetics Home Reference: Griscelli syndrome

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  7. Genetics Home Reference: DOORS syndrome

    ... structures called stereocilia. In the inner ear, stereocilia project from certain cells called hair cells . The stereocilia bend in response to sound waves, which is critical for converting sound waves to ...

  8. Genetics Home Reference: Cushing disease

    ... decreased muscle mass leading to weakness and reduced stamina, thinning skin causing stretch marks and easy bruising, ... one copy of the altered gene in each cell is sufficient to cause the disorder. Related Information ...

  9. Genetics Home Reference: Ewing sarcoma

    ... produced from the FLI1 gene, attaches (binds) to DNA and regulates an activity called transcription , which is the first step in the production ... regulates transcription. The EWS/FLI protein has the DNA-binding function of ... well as the transcription regulation function of the EWS protein. It is ...

  10. Genetics Home Reference: hereditary hyperekplexia

    ... hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs ... fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get ...

  11. Genetics Home Reference: Costello syndrome

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  12. Genetics Home Reference: cardiofaciocutaneous syndrome

    ... This Page Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr ... on PubMed or Free article on PubMed Central Armour CM, Allanson JE. Further delineation of cardio-facio- ...

  13. Genetics Home Reference: Kniest dysplasia

    ... may include a rounded upper back that also curves to the side ( kyphoscoliosis ), severely flattened bones of ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  14. Genetics Home Reference: Carpenter syndrome

    ... deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  15. Genetics Home Reference: Czech dysplasia

    ... such as a rounded upper back that also curves to the side ( kyphoscoliosis ). Some people with Czech ... Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common ...

  16. Genetics Home Reference: pseudocholinesterase deficiency

    ... BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003 Aug;49(8):1297- ... API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players U.S. Department of ...

  17. Genetics Home Reference: Huntington disease

    ... an earlier onset of signs and symptoms. This phenomenon is called anticipation . People with the adult-onset ... As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may ...

  18. Genetics Home Reference: lipoid proteinosis

    ... persist throughout life and can ultimately cause difficulty speaking or complete loss of speech. Involvement of the ... still unclear. Deposits can be found in some internal organs, including the stomach , a section of the ...

  19. Genetics Home Reference: Troyer syndrome

    ... Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an ... Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological ...

  20. Genetics Home Reference: glycine encephalopathy

    ... seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood ...