Sample records for GENETIQUE (genetics)
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1

Apport de la génétique pour une meilleure connaissance des populations naturelles et une amélioration des populations cultivées d'huîtres plates et creuses Contribution of genetics to a better understanding of natural populations and to the improvement of cultivated flat and cupped oyster populations

Lapegue Sylvie

In the framework of the French diploma "Habilitation à Diriger des Recherches", Sylvie Lapègue's synthesis of research includes ten years (1998-2007) of work in bivalve genetics, and mainly cupped and flat oysters. This research has been developed in (1) flat oyster population genetics at the Europe...

DRIVER (French)

2

Susceptibilité génétique dans une région du chromosome 9 commune à plusieurs cancers : mélanome et gliome


... ami RSS Partagez Susceptibilité génétique dans une région du chromosome 9 commune à plusieurs cancers : mélanome et gliome 06 Juillet 2009 cp_nature_genetics_6_juillet_09 ... Cette étude est associée au consortium international GenoMEL (Melanoma Genetics Consortium : http://www.genomel.org/ ) et reçoit en ...

Institut National de la Sante et de la Recherche Medicale (French)

3

Identification de deux nouveaux facteurs de susceptibilité génétique de la maladie d'Alzheimer


Ces résultats sont publiés dans la version en ligne de la revue Nature Genetics , le 6 septembre 2009. Comme de nombreuses maladies chroniques, l'apparition de la maladie d'Alzheimer est liée à des interactions complexes entre des facteurs de prédisposition génétique et des facteurs de risque liés à ...

Institut National de la Sante et de la Recherche Medicale (French)

4

Lancement de la première collaboration internationale sur la génétique de la maladie d'Alzheimer. Un consortium mondial vise...


L'Alzheimer's Disease Genetics Consortium (ADGC, consortium de génétique pour la maladie d'Alzheimer) aux Etats-Unis, dirigé par Gerard Schellenberg, chercheur, à la faculté de médecine de l'Université de Pennsylvanie. Le Genetic and Environmental Risk in Alzheimer's Disease (GERAD, risque génétique ...

Institut National de la Sante et de la Recherche Medicale (French)

5

Myopathies, la recherche avance : le complexe desmine/myotubularine offre de nouveaux espoirs thérapeutiques


Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. 2. Inserm U964 Illkirch ... Division of Genetics and Program in Genomics Manton Center for Orphan Disease Research Children's Hospital Boston Harvard Medical School Boston Massachusetts ...

Institut National de la Sante et de la Recherche Medicale (French)

6

Mutations dans le gène codant pour la beta-glucocérébrosidase : un facteur de risque important dans la maladie de Parkinson


Ces travaux viennent de paraître en ligne dans la revue Human Molecular Genetics. Maladie de Parkinson: une origine génétique? (C) CRICM UMRS 975 Corps ... plus Source Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease Human Molecular Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

7

croissance_expertauteur.pdf


Croissance et puberté Évolutions séculaires, facteurs environnementaux et génétiques Expertise collective Croissance et puberté Croissance Évolutions séculaires, facteurs environnementaux et puberté et génétiques Dans la plupart des pays occidentaux, la taille moyenne Évolutions séculaires, atteinte ...

Institut National de la Sante et de la Recherche Medicale (French)

8

tests-genetiques_expertauteur.p.PDF


Tests génétiques Questions scientifiques, médicales et sociétales Expertise collective Ce rapport présente les travaux du groupe d'experts réunis par l'Inserm dans le cadre de la procédure d'expertise collective (annexe 1), pour répondre à la demande de la Caisse nationale d'assurance maladie des travailleurs ...

Institut National de la Sante et de la Recherche Medicale (French)

9

susceptibilites_genetiques_expo_prof_2001.pdf


Cet ouvrage présente les travaux du groupe d'experts réunis par l'INSERM pour répondre aux questions posées par l'Institut national de recherche et de sécurité (INRS) concernant les liens éventuels entre susceptibilités génétiques et expositions professionnelles. Il s'appuie sur les données scientifiques ...

Institut National de la Sante et de la Recherche Medicale (French)

10

obesite2006_presentation.pdf


Obésité Bilan et évaluation des programmes de prévention et de prise en charge Obésité Bilan et évaluation des programmes de prévention et de prise en charge ISBN 2-85598-852-7 (C) Les éditions Inserm, 2006 101 rue de Tolbiac, 75013 Paris Dans la même collection ¬ Vaccinations. Actualités et perspectives. ...

Institut National de la Sante et de la Recherche Medicale (French)

11

newsletter_weekly_wynqxo_157.pdf


Lettre ... eu/node/250 Séminaire hospitalo-universitaire de Strasbourg " La nouvelle physiologie du squelette et ses implications thérapeutiques " par le Pr Gérard Karsenty, Department of Genetics and Development, Columbia University Medical Center, New York, NY. Rendez-vous le vendredi 11 juin à 11h, Amphithéâtre ...

Institut National de la Sante et de la Recherche Medicale (French)

12

newsletter_weekly_vuQaFW_60.pdf


Lettre ... Rencontres scientifiques Séminaires/conférences/colloques/symposiums/journées scientifiques Titre: Drosophila genetics to study aging and neurodegeneration Conférencier: Bart Dermaut (Université Catholique de Louvain, Belgique) Organisateur: IFR 114- IMPRT Date: 26 avril 2010, à 11h Lieu: UGSF, ...

Institut National de la Sante et de la Recherche Medicale (French)

13

newsletter_weekly_HMMP7e_215.pdf


Lettre ... Rencontres scientifiques Conférence CD38, oxytocin and autism Conférence " CD38, oxytocin and autism " (en anglais) par Olga Lopatina,Department of Biophysical Genetics,Kanazawa University Graduate School of Medical Science and School of Medicine (Japan) Le jeudi 8 juillet à 14 h - Salle de réunions ...

Institut National de la Sante et de la Recherche Medicale (French)

14

newsletter_weekly_AHSteQ_134.pdf


Lettre ... dissected via 3D particle tracking and colocalization analysis par Aurélie DUPONT, Ludwig-Maximilians-Universität Munich 14h30, UM2 bât 11 salle LPTA Contact : Andrea Parmeggiani Mardi 1 juin SnRNP dynamics and spliceosome assembly in the cell nucleus par David Stanek, Institute of Molecular Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

15

in t.grale.pdf


Tuberculose Place de la vaccination dans la maîtrise de la maladie Cet ouvrage présente les travaux du groupe d'experts réunis par l'Inserm dans le cadre de la procédure d'expertise collective, pour répondre aux questions posées par la Direction générale de la santé (DGS) concernant la place de la vaccination ...

Institut National de la Sante et de la Recherche Medicale (French)

16

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Lemonnier, Eric; Ronce, Nathalie; Ropers, Hans-Hilger; Raynaud, Martine; Calvas, Patrick; Chelly, Jamel; Gomot, Marie

A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2–base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to...

DRIVER (French)

18

Uniparental (mtDNA, Y-chromosome) Polymorphisms in French Guiana and Two Related Populations - Implications for the Region's Colonization

Mazières, Stéphane; Guitard, Evelyne; Crubézy, Eric; Dugoujon, Jean-Michel; Bortolini, Maria; Bonatto, Sandro; Hutz, Mara

Blood samples collected in four Amerindian French Guiana populations (Palikur, Emerillon, Wayampi and Kali'na) in the early 1980s were screened for selected mtDNA and Y-chromosome length polymorphisms, and sequenced for the mtDNA hypervariable segment I (HVS-I). In addition, two other Amerindian pop...

DRIVER (French)

19

Un retour prometteur pour la thalidomide


Qu'est-ce que l'Inserm ? Missions de l'Institut Prix Inserm Organigramme Travailler à l'Inserm Forces de la recherche Programmes de recherche Politique internationale Programmes européens L'Inserm en région Participer à la recherche Neurosciences, sciences cognitives, neurologie, psychiatrie Enjeux Dossiers ...

Institut National de la Sante et de la Recherche Medicale (French)

20

Un nouveau pas a été franchi dans la compréhension de la sélection naturelle.


Elle est publiée dans la revue PloS Genetics (édition du 26 février 2010). (C) Inserm, B. Jordan L'ADN est une longue suite de 3 milliards de "lettres", ... 2010) "Human and non-human primate genomes share hotspots of positive selection" Plos Genetics 6(2): e1000840. doi:10.1371/journal.pgen.1000840 Contact ...

Institut National de la Sante et de la Recherche Medicale (French)

21

Un moteur cellulaire essentiel au fonctionnement des cellules nerveuses : conséquences pour la compréhension de la maladie...


Leurs résultats sont publiés en ligne dans la revue Human Molecular Genetics . La maladie de Huntington est une maladie neurodégénérative héréditaire qui ... Human Molecular Genetics Contact chercheur Luc Dupuis * Unité Inserm 692 Laboratoire de signalisations moléculaires et neurodégénérescence'' Faculté ...

Institut National de la Sante et de la Recherche Medicale (French)

22

Troubles du langage : un réseau de protéines en cause


Source "Molecular networks implicated in speech-related disorders : FOXP2 regulates the SRPX2/uPAR complex" Human Molecular Genetics sept. 2010 Retour à la liste des actualités " Recherche " Haut de page Retrouvez l'Inserm sur : Partenaires Contacts Plan du site Mentions légales XXX Voir Modifier Créer ...

Institut National de la Sante et de la Recherche Medicale (French)

23

Transcriptional Polarity in rRNA Operons of Escherichia coli nusA and nusB Mutant Strains

Squires, Catherine L.; Quan, Selwyn; French, Sarah; Zhang, Ning

Synthesis of ribosomes in Escherichia coli requires an antitermination system that modifies RNA polymerase to achieve efficient transcription of the genes specifying 16S, 23S, and 5S rRNA. This modification requires nucleotide signals in the RNA and specific transcription factors, such as NusA and N...

DRIVER (French)

24

The parkin gene and its phenotype

Bonifati, V; De Michele, G; Lucking, CB; Durr, A; Fabrizio, E; Ambrosio, G; Vanacore, N; De Mari, M; Marconi, R; Capus, L

Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s...

DRIVER (French)

26

The Genetics and Development of an Eyespot Pattern in the Butterfly Bicyclus Anynana: Response to Selection for Eyespot Shape

Monteiro, A.; French, V.; Brakefield, P. M.

The normally circular eyespots on the wing of the butterfly Bicyclus anynana were selected to become elliptical in two divergent lines, with antero-posterior elongation of the eyespots in one line and proximodistal elongation in the other. Selection was continued for nine generations, and symmetrica...

DRIVER (French)

27

TRANSTHYRETIN GENE ANALYSIS IN EUROPEAN PATIENTS WITH SUSPECTED FAMILIAL AMYLOID POLYNEUROPATHY

REILLY, MM; ADAMS, D; BOOTH, DR; DAVIS, MB; SAID, G; LAUBRIATBIANCHIN, M; PEPYS, MB; THOMAS, PK; HARDING, AE

We investigated 99 patients from 64 European families (51 French, II British, one Italian and one Spanish) with suspected familial amyloid polyneuropathy (FAP) for transthyretin (TTR) gene mutations. Thirty-nine families were found to have point mutations causing the following amino acid substitutio...

DRIVER (French)

28

TNFalpha-Polymorphismus bei Patienten mit Sepsis und Schilddrüsenkarzinomen

Rossbach, Christiane

Das Zytokin Tumornekrosefaktor a (TNFa) hat einen entscheidenden Anteil an der Entwicklung schwerer Komplikationen, wie septischer Schock und Multiorganversagen nach Entwicklung einer Sepsis. Eine Assoziation des TNF2-Allels mit einem erhöhten TNF a Spiegel und einer höheren Mortalitätsrate wurde i...

DRIVER (French)

29

T. Damerval's biography


... structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ... to enter the Ecole Normale Supérieure in Lyon (written and oral examinations) 1998 - 2002: Evry Val d'Essonne University (teaching bacterial genetics)Member ...

Institut National de la Sante et de la Recherche Medicale (French)

30

Summer mortality in juvenile cupped oysters : response to selection in the field and in laboratory

Degremont Lionel; Bedier Edouard; Soletchnik Patrick; Ropert Michel; Samain Jean-francois; Boudry Pierre

The French project "Morest", coordinated by IFREMER, aims to a better understanding of the causes of summer mortalities in juvenile oysters by a multidisciplinary approach. Within this program, a first generation (G1) was bred in 2001 to assess to what extent genetic variability exists for this trai...

DRIVER (French)

31

Study of the impact of perilipin polymorphisms in a French population.

Meirhaeghe, Aline; Thomas, Séverine; Ancot, Frédéric; Cottel, Dominique; Arveiler, Dominique; Ferrières, Jean; Amouyel, Philippe

BACKGROUND: Perilipins are proteins localized at the surface of the lipid droplet in adipocytes, steroid-producing cells and ruptured atherosclerotic plaques playing a role in the regulation of triglyceride deposition and mobilization. We investigated whether perilipin gene polymorphisms were associ...

DRIVER (French)

32

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Audo, Isabelle; Manes, Gaël; Mohand-Saïd, Saddek; Friedrich, Anne; Lancelot, Marie-Elise; Antonio, Aline; Moskova-Doumanova, Veselina

Purpose. To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod-cone dystrophies (adRPs). Methods. Detailed phenotypic characterization was performed, including precise family history, best corrected visual acuity with the ETDRS chart, slit lamp examin...

DRIVER (French)

33

Site map


... structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ... psychiatry Organization Challenges Medical challenges Scientific challenges A word from the directors Foundation on Alzheimer's Top of page Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

34

Site RH de l'Inserm


... permanent personnel of 17, using a variety of model systems and approaches including experimental infectious models, virulence factors and resistance genetics, gut microbiota and antibiotherapy, pharmacokinetic and molecular biology, genetics, physics, biocomputing and genomics. The successful candidate ...

Institut National de la Sante et de la Recherche Medicale (French)

35

Significant Linkage for Tourette Syndrome in a Large French Canadian Family

Maziade, Michel; Rousseau, François; Émond, Claudia; Bouvier, Hélène; Mérette, Chantal; Brassard, Andrée; Roy, Marc-André

Family and twin studies provide strong evidence that genetic factors are involved in the transmission of Gilles de la Tourette syndrome (TS) and related psychiatric disorders. To detect the underlying susceptibility gene(s) for TS, we performed linkage analysis in one large French Canadian family (1...

DRIVER (French)

36

Short communication: correlations of marker-assisted breeding values with progeny-test breeding values for eight hundred ninety-nine French Holstein bulls.

Guillaume, F; Fritz, S; Boichard, D; Druet, Tom

French artificial insemination companies have been running a marker-assisted selection program since 2001 to determine which young bulls should be progeny tested. A first batch of 899 Holstein sires receiving their first proofs based on progeny daughters has been studied. Estimated breeding values w...

DRIVER (French)

37

Scientific Information and Communication (DISC)


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

38

Risque d'infarctus du myocarde : de nouveaux gènes impliqués / Espace Journalistes


Ces travaux sont publiés dans l'édition avancée en ligne de Nature genetics du 08 février 2009. Depuis 2 ans les chercheurs du consortium européen Cardiogenics ... identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease" Accès direct à l'article original sur Nature genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

40

Regional offices


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

41

Refinement of two female fertility QTL using alternative phenotypes in French Holstein dairy cattle.

Guillaume, F; Gautier, M; Ben Jemaa, S; Fritz, S; Eggen, A; Boichard, D; Druet, Tom

Two quantitative trait loci (QTL) affecting female fertility were mapped in French dairy cattle. Phenotypes were non-return rates at 28, 56, 90 and 282 days after insemination. On chromosome 3, a QTL was significant at 1% for non-return rate at 90 days, suggesting that it affects early fertility eve...

DRIVER (French)

42

Quantitative estimation of genetic risk for atypical scrapie in French sheep and potential consequences of the current breeding programme for resistance to scrapie on the risk of atypical scrapie.

Fediaevsky, Alexandre; Calavas, Didier; Gasqui, Patrick; Moazami-Goudarzi, Katayoun; Laurent, Pascal; Arsac, Jean-Noël

BACKGROUND: Since 2002, active surveillance programmes have detected numerous atypical scrapie (AS) and classical scrapie cases (CS) in French sheep with almost all the PrP genotypes. The aim of this study was 1) to quantify the genetic risk of AS in French sheep and to compare it with the risk of C...

DRIVER (French)

43

Quantitative Founder-Effect Analysis of French Canadian Families Identifies Specific Loci Contributing to Metabolic Phenotypes of Hypertension

Deslauriers, B.; Bouchard, G.; Jomphe, M.; Pintos, J.; Gaudet, D.; Hudson, T. J.; Gagnon, F.; Pausová, Z.; Šeda, O.; Antoniol, G.

The Saguenay–Lac St-Jean population of Quebec is relatively isolated and has genealogical records dating to the 17th-century French founders. In 120 extended families with at least one sib pair affected with early-onset hypertension and/or dyslipidemia, we analyzed the genetic determinants of hypert...

DRIVER (French)

44

QTL fine-mapping: experience in French dairy cattle

Gautier, M; Druet, Tom; Fritz, S; Eggen, A; Boichard, D

DRIVER (French)

45

Products Transcribed from Rearranged rrn Genes of Escherichia coli Can Assemble To Form Functional Ribosomes

Zaporojets, Dmitry; Squires, Catherine L.; French, Sarah

To examine the flexibility of rRNA operons with respect to fundamental organization, transcription, processing, and assembly of ribosomes, operon variations were introduced by a plasmid into an Escherichia coli strain that has deletions of all chromosomal copies of rRNA genes. In the reconstructed o...

DRIVER (French)

47

Pituitary disease in MEN type 1 (MEN1): Data from the France-Belgium MEN1 multicenter study

Vergès, B; Boureille, F; Goudet, P; Murat, A; Beckers, Albert; Sassolas, G; Cougard, P; Chambe, B; Montvernay, C; Calender, A

To date, data on pituitary adenomas in MEN type 1 (MEN1) still have to be evaluated. We analyzed the data of a large series of 324 MEN1 patients from a French and Belgian multicenter study. Data on pituitary disease were compared with those from 110 non-MEN1 patients with pituitary adenomas, matched...

DRIVER (French)

48

Phylogenetic and Familial Estimates of Mitochondrial Substitution Rates: Study of Control Region Mutations in Deep-Rooting Pedigrees

Yotova, Vania; Heyer, Evelyne; Rochowski, Andrzej; Zietkiewicz, Ewa; Puymirat, Jack; Labuda, Damian

We studied mutations in the mtDNA control region (CR) using deep-rooting French-Canadian pedigrees. In 508 maternal transmissions, we observed four substitutions (0.0079 per generation per 673 bp, 95% CI 0.0023–0.186). Combined with other familial studies, our results add up to 18 substitutions in 1...

DRIVER (French)

49

Patients' Association Liaison Group (GRAM)


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

50

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

Periquet, M; Latouche, M; Lohmann, E; Rawal, N; De Michele, G; Ricard, S; Teive, H; Fraix, V; Vidailhet, M; Nicholl, D

DRIVER (French)

51

PageDeb-SantÃ(C) Enfants.indd


Expertise opérationnelle Santé de l'enfant Propositions Santé de l'enfant Propositions pour un meilleur suivi pour un meilleur suivi La pratique des examens de santé systématiques chez l'enfant est solidement ancrée en France. Elle est associée à la généralisation du carnet de santé, à la mise en place ...

Institut National de la Sante et de la Recherche Medicale (French)

52

Orphanet: Orphanet Urgences


Aller vers le contenu English Español Deutsch Italiano Portuguese Orphanet index Le portail des maladies rares et des médicaments orphelins Accueil Aide Nous contacter Menu principal : Maladies rares Médicaments orphelins Centres experts Tests diagnos- tiques Recherche / Essais cliniques Associations ...

Institut National de la Sante et de la Recherche Medicale (French)

53

Orphanet Slovenia


... SLOVENIA > ORPHANET SLOVENIA About Orphanet Slovenia National Co-ordinator: Prof. Borut Peterlin Phone: + 386 1 5401 137 e-mail: Information scientist: Luca Lovrecic E-mail: Address: University Medical Center Ljubljana Institute of Medical Genetics Division of Gynaecology Slajmerjeva 3 SI-1000 Ljubljana Slovenia

Institut National de la Sante et de la Recherche Medicale (French)

54

Origin of the mutations in the parkin gene in europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

Periquet, M; Lucking, CB; Vaughan, JR; Bonifati, V; Durr, A; De Michele, G; Horstink, MW; Farrer, M; Illarioshkin, SN

A wide variety of mutations in the parkin gene, including exon deletions and duplications, as well as point mutations, result in autosomal recessive early-onset parkinsonism. Interestingly, several of these anomalies were found repeatedly in unrelated patients and may therefore result from recurrent...

DRIVER (French)

55

Organization of the institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

56

Organization of the institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

57

Organization of the institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

58

Organization of the Institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

59

Organization of the Institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

60

Organization of the Institute


... structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ... Font size Bookmark Print Tip a friend Genetics, Genomics and Bioinformatics Organization of the Institute Director: Martine Defais Deputy Director: ...

Institut National de la Sante et de la Recherche Medicale (French)

61

Organization of the Institute


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

62

Organization chart


... structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ... Find out more Institute of Genetics, Genomics and Bioinformatics Dominique Daegelen , the Institute's Deputy Director, is in charge of defining ...

Institut National de la Sante et de la Recherche Medicale (French)

63

Ocytocine : espoir de guérison des troubles alimentaires du nouveau-né


Ces travaux sont publiés dans la revue Human Molecular Genetics . Dans les premières heures de la vie, la relation mère-enfant s'établit par la proximité ... de Luminy BP 13 13273 Marseille Cedex 09 France (3) Université de la Méditerranée UMR S901 Aix-Marseille 2 13009 France Human Molecular Genetics 28 ...

Institut National de la Sante et de la Recherche Medicale (French)

64

No Job Name


Suicide Autopsie psychologique, outil de recherche en prévention Ce document présente les travaux du groupe d'experts réunis par l'Inserm dans le cadre de la procédure d'expertise collective, pour répondre aux questions posées par la Direction générale de la santé (DGS) concernant l'intérêt de la démarche ...

Institut National de la Sante et de la Recherche Medicale (French)

65

Multiple introductions promote range expansion of the mollusc Cyclope neritea (Nassariidae) in France: evidence from mitochondrial sequence data.

Simon-Bouhet, B.; Garcia-Meunier, P.; Viard, F.

Since the 1970s, the nassariid gastropod Cyclope neritea has been extending its range north along the French Atlantic coasts from the Iberian Peninsula. This may be due to natural spread because of the recent warming of the northeastern Atlantic. However, human-mediated introductions related to shel...

DRIVER (French)

66

Molecular mechanisms underlying morphological effects of protein kinase C under normal conditions and cellular stress.

Sunesson, Lovisa

The protein kinase C (PKC) family of serine/threonine kinases consists of 10-15 members. The PKC isoforms have central roles in many essential cellular processes, including proliferation, apoptosis, differentiation, cytoskeletal changes, and migration. The PKC family can be subgrouped into classical...

DRIVER (French)

67

Molecular Differentiation at Nuclear Loci in French Host Races of the European Corn Borer (Ostrinia nubilalis)

Dopman, Erik; Audiot, Philippe; Malausa, Thibaut; Martin, Jean-François; Leniaud, Laurianne; Bourguet, Denis; Harrison, Richard G.

French populations of the European corn borer consist of two sympatric and genetically differentiated host races. As such, they are well suited to study processes that could be involved in sympatric speciation, but the initial conditions of host-race divergence need to be elucidated. Gene genealogie...

DRIVER (French)

68

Modeling lactation curves and estimation of genetic parameters for first lactation test-day records of French Holstein cows.

Druet, Tom; Jaffrezic, F; Boichard, D; Ducrocq, V

Several functions were used to model the fixed part of the lactation curve and genetic parameters of milk test-day records to estimate using French Holstein data. Parametric curves (Legendre polynomials, Ali-Schaeffer curve, Wilmink curve), fixed classes curves (5-d classes), and regression splines ...

DRIVER (French)

69

Microsoft Word - biographie_D_Daegelen_en.doc


Dominique Daegelen's biography Born on December 31st, 1949 Director of the " Genetics and development " institute since April 21st, 2008 Degrees and qualifications ... and skeletal muscles 2002-2005 Co-coordinator of the " Genetics and development of the neuromuscular system " 2002 Director of the " Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

70

Microsoft Word - 0000.rtf


Asthme Dépistage et prévention chez l'enfant Rapport établi à la demande de la Caisse nationale d'assurance-maladie des professions indépendantes (Canam) Expertise Collective INSERM (C) Les Editions INSERM, 2002 101 rue de Tolbiac 75013 PARIS ISBN 2-85598-803-9 ISSN 1264-1782 Cet ouvrage présente les ...

Institut National de la Sante et de la Recherche Medicale (French)

71

Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12

Mercho, Suha; Seni, Marie-Hélène; Dubeau, François; Li, Dong-Sheng; Scheffer, Ingrid; Berkovic, Samuel F.; Desbiens, Richard

We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal, and occasionally occipital epileptic foci. There is no evidence for structural brain damage or perma...

DRIVER (French)

72

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Schalling, Martin; Brassat, David; Calvas, Patrick; Rascol, Olivier; Herman-Bert, Alexandra; Stevanin, Giovanni

We examined a large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellar ataxia genes and loci. The patients—seven women and a 4-year-old boy—exhibited slowly progressive childhood-onset cerebellar gait ataxia associated with...

DRIVER (French)

73

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer

Carpten, John D.; Smith, Jeffrey R.; Tester, David J.; Trent, Jeffrey M.; Schroeder, Jennifer J.; McDonnell, Shannon K.

Recent studies suggest that hereditary prostate cancer (PRCA) is a complex disease, involving multiple susceptibility genes and variable phenotypic expression. Through linkage analysis, potential prostate cancer susceptibility loci have been mapped to 3 regions on chromosome 1. To investigate the re...

DRIVER (French)

74

Lettre+du+si%C3%A8ge+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

75

Lettre+Rh%C3%B4ne-Alpes%2C+Auvergne+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

76

Lettre+Rh%C3%B4ne-Alpes%2C+Auvergne+%28Semaine+38%29.pdf


Lettre ... Grenoble : les séminaires de Neurosciences Regulation of microtubule behaviour in neurons par Niels Galjart du Département : Cell Biology and Genetics, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands le jeudi 23 septembre à 16h. Salle de conférences, Grenoble Institut des Neurosciences ...

Institut National de la Sante et de la Recherche Medicale (French)

77

Lettre+Paris+V+%28Semaine+39%29.pdf


Lettre régionale Cette lettre hebdomadaire, réalisée par les chargés de communication des délégations régionales et le département de l'information scientifique et de la communication, est destinée à l'ensemble des personnels de l'Inserm. A la une L'Inserm fait son cinéma! - Le coeur L'Inserm IDF organise ...

Institut National de la Sante et de la Recherche Medicale (French)

78

Lettre+Paris+7%2C+Paris-Nord++%28Semaine+39%29.pdf


Lettre régionale Cette lettre hebdomadaire, réalisée par les chargés de communication des délégations régionales et le département de l'information scientifique et de la communication, est destinée à l'ensemble des personnels de l'Inserm. A la une Les dernières publications sur Paris-Nord Grâce à une ...

Institut National de la Sante et de la Recherche Medicale (French)

79

Lettre+Paris+6+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

80

Lettre+Paris+12+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

81

Lettre+Paris+11+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

82

Lettre+PACA+et+Corse+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

83

Lettre+Nord-Ouest+%28Semaine+39%29.pdf


Lettre régionale Cette lettre hebdomadaire, réalisée par les chargés de communication des délégations régionales et le département de l'information scientifique et de la communication, est destinée à l'ensemble des personnels de l'Inserm. A la une Bar des sciences sur la mémoire Titre: Bar des sciences ...

Institut National de la Sante et de la Recherche Medicale (French)

84

Lettre+Midi-Pyr%C3%A9n%C3%A9es%2C+Limousin+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

85

Lettre+Languedoc%2C+Roussillon+%28Semaine+42%29.pdf


Lettre ... synaptique morphofonctionnelle dans l'hippocampe par Christophe Mulle, Institut François Magendie Bordeaux 11h, IGF sud Contact : Laurent Fagni Towards understanding the genetic basis of non-mendelian inheritance : behavior and genetic incompatibility par Tsuyoshi Koide, National Institute of Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

86

Lettre+Languedoc%2C+Roussillon+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

87

Lettre+Grand-Ouest+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

88

Lettre+Grand-Est+%28Semaine+39%29.pdf


Lettre ... Affiche Eunephron Wellcome Trust Scientific Conference: Bridging the Gap on Biomedical Genetics Du 27 au 29 octobre 2010 au Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. Consulter le site dédié... EMBO Workshop " Immunology & Metabolism " Au Centre d'Immunologie ...

Institut National de la Sante et de la Recherche Medicale (French)

89

Lettre+Aquitaine%2C+Poitou-Charentes+%28Semaine+39%29.pdf


Lettre ... Sundberg The Jackson Laboratory, Bar Harbor, Maine USA " The Mouse Pathology Quantitative Data Set: A new tool to define strain specific background diseases and the genetics of chronic diseases of aging " Contact : Pierre Dubus, Pierre.Dubus@u-bordeaux2.fr Mardi 5 Octobre 2010 à 11h00 Amphithéâtre ...

Institut National de la Sante et de la Recherche Medicale (French)

90

Lettre+Aquitaine%2C+Poitou-Charentes+%28Semaine+38%29.pdf


Lettre régionale Cette lettre hebdomadaire, réalisée par les chargés de communication des délégations régionales et le département de l'information scientifique et de la communication, est destinée à l'ensemble des personnels de l'Inserm. A la une Neurogénèse et physiopathologie 1er colloque aquitain ...

Institut National de la Sante et de la Recherche Medicale (French)

91

Le rôle majeur de la reptine dans le cancer du foie : une nouvelle cible thérapeutique


9 Dartmouth Medical School, Department of Pharmacology and of Genetics, Lebanon, NH 03756 USA. Hepatology, 26 juillet 2007, DOI: 10.1002/hep.21770 Contact chercheur Jean Rosenbaum Directeur de l'Unité Inserm 889 « Fibrose hépatique et cancer du foie » Tél. : 05 57 57 15 94 E-mail : jean.rosenbaum@gref.u-bordeaux2.fr

Institut National de la Sante et de la Recherche Medicale (French)

92

Le resveratrol : un polyphénol aux propriétés bénéfiques


Ohio State University, Department of Molecular Virology, Immunology and Medical Genetics, Biological Research Tower, 460 W. 12th Ave., Columbus, OH 43210, ... Ohio State University, Department of Molecular Virology, Immunology and Medical Genetics, Columbus, OH 43210, USA b. LBMN-Inserm U866 Université de ...

Institut National de la Sante et de la Recherche Medicale (French)

93

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

DEBRAY, François-Guillaume; Morin, C; Janvier, Antoine; Villeneuve, J; Maranda, B; Laframboise, R; LACROIX, Joseph

Background The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. Results 5...

DRIVER (French)

94

L'ocytocine : un espoir pour les nouveau-nés présentant des troubles de la succion ?


... deficient for the imprinted Magel2 gene" Schaller et coll., Human Molecular Genetics 28 septembre 2010 Retour à la liste des actualités " Recherche " Haut de page Retrouvez l'Inserm sur : Partenaires Contacts Plan du site Mentions légales XXX Voir Modifier Créer ici Linkedin Viadeo Delicious Twitter Facebook

Institut National de la Sante et de la Recherche Medicale (French)

96

Institutional Review Board (IRB)


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

97

Institutes


... structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ... Font size Bookmark Print Tip a friend Institutes Molecular and Structural Bases of Living Organisms Cell Biology, Development and Evolution Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

98

Instances Authorities


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

99

Increased rrn Gene Dosage Causes Intermittent Transcription of rRNA in Escherichia coli

Squires, Craig; Voulgaris, Justina; Gourse, Richard L.; French, Sarah; Squires, Catherine L.

When the number of rRNA (rrn) operons in an Escherichia coli cells is increased by adding an rrn operon on a multicopy plasmid, the rate of rRNA expression per operon is reduced to maintain a constant concentration of rRNA in the cell. We have used electron microscopy to examine rRNA transcription i...

DRIVER (French)

100

Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population.

Ghoussaini, Maya; Meyre, David; Lobbens, Stéphane; Charpentier, Guillaume; Clément, Karine; Charles, Marie-Aline

BACKGROUND: The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsistently with obesity. The aim of this study was to evaluate the impact of this ...

DRIVER (French)

101

Implantation à l'étranger des laboratoires associés et des unités Inserm


Neurosciences, sciences cognitives, neurologie, psychiatrie Organisation de l'institut Mot du directeur La Fondation Alzheimer Cancer Organisation de l'institut Mot du directeur Microbiologie et maladies infectieuses Organisation de l'institut Mot du directeur Circulation, métabolisme, nutrition Organisation ...

Institut National de la Sante et de la Recherche Medicale (French)

102

Identification d'un gène de prédisposition à la sclérose en plaques


... Norway 10. Wellcome Trust Centre for Human Genetics and Department of Clinical Neurology University of Oxford OX3 7BN Oxford UK 11. Department of Medical Genetics and Faculty of Medicine Division of Neurology University of British Columbia V6T 2B5 Vancouver British Columbia Canada 12. Department of Medicine ...

Institut National de la Sante et de la Recherche Medicale (French)

103

How much phenotypic variation can be attributed to parkin genotype?

Lohmann, E; Periquet, M; Bonifati, V; Wood, NW; De Michele, G; Bonnet, AM; Fraix, V; Broussolle, E; Horstink, MWIM; Vidailhet, M

To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symm...

DRIVER (French)

104

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism

Lucking, CB; Abbas, N; Durr, A; Bonifati, V; Bonnet, AM; de Broucker, T; De Michele, G; Wood, NW; Agid, Y; Brice, A; European Consortium Genetic Susceptibility Park,

DRIVER (French)

105

Hochauflösende Array-CGH-Analysen zum Nachweis submikroskopischer Aberrationen bei Myelodysplastischen Syndromen (MDS)

Pölitz, Anne

Die Myelodysplastischen Syndrome (MDS) sind gekennzeichnet durch eine ineffektive Hämatopoese mit Zytopenien, Zelldysplasien sowie Blasten in Knochenmark und/oder Blut. Sie zählen zu den häufigsten Neoplasien im Alter und gehen zu 25% in die Akute Myeloische Leukämie über. 50% der Patienten weisen z...

DRIVER (French)

106

Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

Fontaine, Bertrand; Ang, Debbie; Nielsen, Marit Nyholm; Georgopoulos, Costa; Hansen, Jens Jacob; Dürr, Alexandra

SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the ...

DRIVER (French)

107

Headquarters Management Service


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

108

HSPD1 is not a major susceptibility gene for rheumatoid arthritis in the French Caucasian population

Jacq, Laurent; Teixeira, Vitor; Garnier, Sophie; Michou, Laëtitia; Dieudé, Philippe; Rocha, Dominique; Pierlot, Céline

Abstract The heat shock 60-kDa protein 1 (HSP60) is involved in immune and inflammatory reactions, which are hallmarks of rheumatoid arthritis (RA). HSP60 is encoded by the HSPD1 gene located on 2q33, one of the suggested RA susceptibility loci in the French Caucasian population. Our aim was to tes...

DRIVER (French)

109

H. Douchin's biography


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

111

Genotypic and Antibiotic Susceptibility Characteristics of a Campylobacter coli Population Isolated from Dairy Farmland in the United Kingdom

Sutherst, J.; Diggle, P. J.; Williams, N. J.; Leatherbarrow, A. J. H.; French, N. P.; Kemp, R.; Hart, C. A.; Ridley, A.

Campylobacter infections are the most common cause of bacterial enteritis in humans, and nearly 8% of such infections are caused by Campylobacter coli. Most studies have concentrated on Campylobacter jejuni, frequently isolated from intensively farmed poultry and livestock production units, and few ...

DRIVER (French)

112

Genomewide Search for Type 2 Diabetes–Susceptibility Genes in French Whites: Evidence for a Novel Susceptibility Locus for Early-Onset Diabetes on Chromosome 3q27-qter and Independent Replication of a Type 2–Diabetes Locus on Chromosome 1q21–q24

Leprêtre, Frédéric; Dupont, Sophie; Gallina, Philippe; Dina, Christian; Francke, Stephan; Dotte, Sébastien; Gallina, Sophie

Despite recent advances in the molecular genetics of type 2 diabetes, the majority of susceptibility genes in humans remain to be identified. We therefore conducted a 10-cM genomewide search (401 microsatellite markers) for type 2 diabetes–related traits in 637 members of 143 French pedigrees ascert...

DRIVER (French)

113

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease

Martinez, M; Brice, A; Vaughan, JR; Zimprich, A; Breteler, MMB; Meco, G; Filla, A; Farrer, MJ; Betard, C; Hardy, J; De Michele, G

Objective: To undertake a full genome-wide screen for Parkinson's disease susceptibility loci.Methods: A genome-wide linkage study was undertaken in 227 affected sibling pairs from 199 pedigrees with Parkinson's disease. The pedigree sample consisted of 188 pedigrees from five European countries, an...

DRIVER (French)

114

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

Barrett, Jeffrey C.; Hansoul, Sarah; Nicolae, Dan L.; Cho, Judy H.; Duerr, Richard H.; Rioux, John D.; Brant, Steven R.

DRIVER (French)

115

Genetics of the APM1 Locus and Its Contribution to Type 2 Diabetes Susceptibility in French Caucasians

Gibson, F; Froguel, P

We have carried out a detailed reexamination of the genetics of the APM1 locus and its contribution to the genetic basis of type 2 diabetes susceptibility in the French Caucasian population. The G allele of single nucleotide polymorphism -11426 in the APM1 promoter showed modest association with typ...

DRIVER (French)

116

Genetic tests: scientific, medical and social questions. An Inserm collective expert report


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

117

Genetic structure at different spatial scales in the pearl oyster (Pinctada margaritifera cumingii) in French Polynesian lagoons: beware of sampling strategy and genetic patchiness

Arnaud Sophie; Vonau Vincent; Rouxel Catherine; Bonhomme Francois; Prou Jean; Goyard Emmanuel; Boudry Pierre

In order to study further the genetic structure of the pearl oyster Pinctada margaritifera in French Polynesia with a special consideration for the sampling scale, we analyzed or re-analyzed sets of data based on nuclear DNA markers obtained at different spatial scales. At a large scale (several 1,0...

DRIVER (French)

118

Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review

Austin, MA; Hutter, CM; Zimmern, RL; Humphries, SE

The clinical phenotype of heterozygous familial hypercholesterolemia (FH) is characterized by increased plasma levels of total cholesterol and low density lipoprotein cholesterol, tendinous xanthomata, and premature symptoms of coronary heart disease. It is inherited as an autosomal dominant disorde...

DRIVER (French)

119

Genetic basis of summer mortality in juvenile cupped oysters

Degremont Lionel; Boudry Pierre; Bedier Edouard; Ropert Michel; Soletchnik Patrick; Huvet Arnaud; Moal Jeanne; Samain Jean-francois

The French project "Morest", coordinated by IFREMER, aims to understand the causes of the summer mortalities in Crassostrea gigas. In 2001, three sets of families were bred following a nested half-sib mating design. 17 half-sib families (HSF) were obtained in this first generation (G1) and reared in...

DRIVER (French)

120

Genetic analysis of a glomerulonephropathy segregating in a pedigree of French Mastiff.

Battaille, Géraldine; Lavoué, Rachel; Peeters, Dominique; Farnir, Frédéric; Georges, Michel; Charlier, Carole; Lequarré, Anne-Sophie

32nd Annual Conference of the International Society of Animal Genetics

DRIVER (French)

121

Gene Rearrangements in the vsa Locus of Mycoplasma pulmonis

French, C. Todd; Shen, Xuejun; Yu, Huilan; Gumulak, Juliann; Zou, Nianxiang; Dybvig, Kevin

The vsa genes of Mycoplasma pulmonis encode the V-1 lipoproteins. Most V-1 proteins contain repetitive domains and are thought to be involved in mycoplasma-host cell interactions. Previously, we have reported the isolation and characterization of six vsa genes comprising a 10-kb region of the genome...

DRIVER (French)

122

GENOMIC SELECTION IN FRENCH DAIRY CATTLE

Boichard, D; Guillaume, F; Baur, A; Croiseau, P; Rossignol, MN; Boscher, MY; Druet, Tom; Genestout, L; Eggen, A; Journaux, L

DRIVER (French)

123

GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies

Waskiewicz, Andrew J.; Mueller, Rosemary; Ye, Ming; Asai-Coakwell, Mika; Lehmann, Ordan J.; Berry, Karyn M.

Colobomata represent visually impairing ocular closure defects that are associated with a diverse range of developmental anomalies. Characterization of a chromosome 8q21.2-q22.1 segmental deletion in a patient with chorioretinal coloboma revealed elements of nonallelic homologous recombination and n...

DRIVER (French)

124

Fine mapping and physical characterization of two linked quantitative trait loci affecting milk fat yield in dairy cattle on BTA26.

Gautier, Mathieu; Barcelona, Rosa Roy; Fritz, Sebastien; Grohs, Cecile; Druet, Tom; Boichard, Didier; Eggen, Andre

Previously, a highly significant QTL affecting fat yield and protein yield and mapped to the bovine BTA26 chromosome has been reported to segregate in the French Holstein cattle population. To confirm and refine the location of this QTL, the original detection experiment was extended by adding 12 ne...

DRIVER (French)

125

Fine mapping and physical characterization of two linked quantitative trait loci affecting milk fat yield in dairy cattle on BTA26.

Gautier, Mathieu; Barcelona, Rosa Roy; Fritz, Sebastien; Grohs, Cecile; Druet, Tom; Boichard, Didier; Eggen, Andre

Previously, a highly significant QTL affecting fat yield and protein yield and mapped to the bovine BTA26 chromosome has been reported to segregate in the French Holstein cattle population. To confirm and refine the location of this QTL, the original detection experiment was extended by adding 12 ne...

DRIVER (French)

126

Fine Mapping and Physical Characterization of Two Linked Quantitative Trait Loci Affecting Milk Fat Yield in Dairy Cattle on BTA26

Grohs, Cécile; Gautier, Mathieu; Fritz, Sébastien; Barcelona, Rosa Roy; Druet, Tom; Meuwissen, Theo H. E.; Boichard, Didier

Previously, a highly significant QTL affecting fat yield and protein yield and mapped to the bovine BTA26 chromosome has been reported to segregate in the French Holstein cattle population. To confirm and refine the location of this QTL, the original detection experiment was extended by adding 12 ne...

DRIVER (French)

127

Familial hypercholesterolemia and coronary heart disease: A HuGE association review

Austin, MA; Hutter, CM; Zimmern, RL; Humphries, SE

Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been shown to be associated with increased coronary heart disease and premature death. Mutations in the low densit...

DRIVER (French)

128

Evidence for a pleiotropic QTL on chromosome 5q13 influencing both time to asthma onset and asthma score in French EGEA families.

Bouzigon, Emmanuelle; Ulgen, Ayse; Dizier, Marie-Hélène; Siroux, Valérie; Lathrop, Mark; Kauffmann, Francine; Pin, Isabelle

Although many genome screens have been conducted for asthma as a binary trait, there is limited information regarding the genetic factors underlying variation of asthma expression. Phenotypes related to variable disease expression include time to asthma onset and variation in clinical expression as ...

DRIVER (French)

129

Evidence for a Prostate Cancer–Susceptibility Locus on Chromosome 20

McDonnell, Shannon K.; Berry, Rebecca; French, Amy J.; Schroeder, Jennifer J.; Peterson, Brett J.; Schaid, Daniel J.

Recent studies suggest that hereditary prostate cancer is a complex disease involving multiple susceptibility genes and variable phenotypic expression. While conducting a genomewide search on 162 North American families with ⩾3 members affected with prostate cancer (PRCA), we found evidence for link...

DRIVER (French)

130

Estimation of genetic parameters for quantitative trait loci for dairy traits in the French Holstein population.

Druet, Tom; Fritz, S; Boichard, D; Colleau, J J

A marker-assisted selection program (MAS) has been implemented in dairy cattle in France. The efficiency of such a selection program depends on the use of correct genetic parameters for the marked quantitative trait loci (QTL). Therefore, the objective of this study was to estimate the proportion of...

DRIVER (French)

131

Estimation of genetic parameters and genome scan for 15 semen characteristics traits of Holstein bulls.

Druet, Tom; Fritz, S; Sellem, E; Basso, B; Gerard, Olivier; Salas-Cortes, L; Humblot, P; Druart, X; Eggen, A

A QTL detection experiment was performed in French dairy cattle to search for QTL related to male fertility. Ten families, involving a total of 515 bulls, were phenotyped for ejaculated volume and sperm concentration, number of spermatozoa, motility, velocity, percentage of motile spermatozoa after ...

DRIVER (French)

132

Estimation by simulation of the efficiency of the French marker-assisted selection program in dairy cattle.

Guillaume, F; Fritz, Sebastien; Boichard, Didier; Druet, Tom

The efficiency of the French marker-assisted selection (MAS) was estimated by a simulation study. The data files of two different time periods were used: April 2004 and 2006. The simulation method used the structure of the existing French MAS: same pedigree, same marker genotypes and same animals wi...

DRIVER (French)

133

Enzymatic polymorphism study as help for constitution of initial broodstock for a new cultivated finfish species.

Renno J; Luquet P

Leporinus friderici is a South American promising species for fish culture. In French Guiana the "morphological species", L. friderici, L. granti, L. lebaili and L. affinis steyermarki are found. Their identification is sometimes difficult on usual criterion. To constitute an initial broodstock of L...

DRIVER (French)

134

Eclairage sur le mode d'action du plus ancien traitement utilisé contre l'hypertension artérielle


Qu'est-ce que l'Inserm ? Missions de l'Institut Prix Inserm Organigramme Travailler à l'Inserm Forces de la recherche Programmes de recherche Politique internationale Programmes européens L'Inserm en région Participer à la recherche Neurosciences, sciences cognitives, neurologie, psychiatrie Enjeux Dossiers ...

Institut National de la Sante et de la Recherche Medicale (French)

135

Découverte du gène responsable de lagressivit des liposarcomes, communiqué de presse du 5 avril 2007


... oncogene amplification and overexpression blocks adipocytic differentiation in highly aggressive sarcomas 1, 2 1, 2 3 4 1, 2 Odette Mariani , Caroline Brennetot , Jean-Michel Coindre , Nadège Gruel , Carine Ganem , 1, 2 1, 2 1, 2 Olivier Delattre , Marc-Henri Stern , Alain Aurias 1 Institut Curie, Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

136

Dominant Inheritance of Sialuria, an Inborn Error of Feedback Inhibition

Gahl, William A.; Dacremont, George; Leroy, Jules G.; Huizing, Marjan; Seppala, Raili; De Simpel, Helena; Krasnewich, Donna M.

“French type” sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with mildly coarse facies, slight motor delay, and urinary excretion of large quantities (>1 g/d) of free N-acetylneuraminic acid (NeuAc). The basic defect consists of the ...

DRIVER (French)

137

Dissemination and survival of commercial wine yeast in the vineyard : a large-scale, three years study

Valero, Eva; Schuller, Dorit; Cambon, Brigitte; Casal, Margarida; Dequin, Sylvie

DRIVER (French)

138

Directorate General


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

139

Detection of quantitative trait loci for reproduction and production traits in Large White and French Landrace pig populations.

Tribout, Thierry; Iannuccelli, Nathalie; Druet, Tom; Gilbert, Helene; Riquet, Juliette; Gueblez, Ronan; Mercat, Marie-Jose

A genome-wide scan was performed in Large White and French Landrace pig populations in order to identify QTL affecting reproduction and production traits. The experiment was based on a granddaughter design, including five Large White and three French Landrace half-sib families identified in the Fren...

DRIVER (French)

140

Detection of quantitative trait loci affecting non-return rate in French dairy cattle.

Ben Jemaa, S; Fritz, S; Guillaum, F; Druet, Tom; Denis, C; Eggen, A; Gautier, M

The purpose of this study was to map quantitative trait loci (QTL) influencing female fertility estimated by non-return rate (NRR) in the French dairy cattle breeds Prim'Holstein, Normande and Montbeliarde. The first step was a QTL detection study on NRR at 281 days after artificial insemination on ...

DRIVER (French)

141

Detection of Quantitative Trait Loci for reproduction and production traits in Large White and French Landrace pig populations

Tribout, T; Iannuccelli, N; Druet, Tom; Gilbert, H; Riquet, J; Gueblez, R; Mercat, MJ; Bidanel, JP; Milan, D; Le Roy, P

DRIVER (French)

142

Des souris recouvrent la vue / Espace Journalistes


... Science 24 juin 2010 (1) Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland (2) NCCR Frontiers in Genetics ... Integrated Protein Science CIPS-M and Department of Pharmacy Ludwig- Maximilians-Universität München Munich Germany (9) Smurfit Institute of Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

143

Des mutations de séquences non codantes, à grande distance d'un gène, impliquées dans une anomalie de développement / Espace...


Cette découverte, publiée dans Nature Genetics , a des implications importantes en termes de stratégie de recherche de mutations en pathologie moléculaire ... Nature genetics , publié en ligne le 22 février 2009 Contact presse Alice Tschudy Université Paris-Descartes Tél. : 01 40 46 18 63 Contact chercheur ...

Institut National de la Sante et de la Recherche Medicale (French)

144

Depistage des neoplasies endocriniennes multiples de type 1 (NEM 1). Reflexion du Groupe d'Etude des Neoplasies Endocriniennes Multiples de type 1 (GENEM 1). Screening of multiple endocrine neoplasias type 1. Reflexions of the Study Group on Multiple Endocrine Neoplasias type 1

Cougard, P; Calender, A; Carnaille, B; Beckers, Albert; Cadiot, G; Chanson, Ph; Chayvialle, JA; Conte-Devolx, B; Decoulx, M

The "Groupe d'Etude des Neoplasies Endocriniennes Multiples de type 1 (GENEM 1)" is a French group involved in a comprehensive multicentre study of Multiple Endocrine Neoplasia type 1 syndrome (NEM 1). The objectives of this group are to define diagnostic and therapeutic protocols and to carry out g...

DRIVER (French)

145

Departments and services


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

146
147

Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families

Rozen, R; Schwartz, RH; Hilman, BC; Stanislovitis, P; Horn, GT; Klinger, K; Daigneault, J; De Braekeleer, M; Kerem, BS

A 3-bp deletion (delta F508) in the cystic fibrosis (CF) gene is the mutation on the majority of CF chromosomes. We studied 112 CF families from North American populations of French ancestry: French-Canadian families referred from hospitals in three cities in Quebec and from the Saguenay-Lac St. Jea...

DRIVER (French)

148

Correlated responses to selection on body size in Drosophila melanogaster

Partridge, L; Langelan, R; Fowler, K; Zwaan, B; French, V

Correlated responses to artificial selection on body size in Drosophila melanogaster were investigated, to determine how the changes in size were produced during development. Selection for increased thorax length was associated with an increase in larval development time, an extended growth period, ...

DRIVER (French)

149

Correlated responses of pre- and postweaning growth and backfat thickness to six generations of selection for ovulation rate or prenatal survival in French Large White pigs.

Rosendo, A; Canario, L; Druet, Tom; Gogue, J; Bidanel, J P

Correlated effects of selection for components of litter size on growth and backfat thickness were estimated using data from 3 pig lines derived from the same base population of Large White. Two lines were selected for 6 generations on either high ovulation rate at puberty (OR) or high prenatal surv...

DRIVER (French)

150

Correlated responses for litter traits to six generations of selection for ovulation rate or prenatal survival in French Large White pigs.

Rosendo, A; Druet, Tom; Gogue, J; Canario, L; Bidanel, J P

Effects of selection for reproductive traits were estimated using data from 3 pig lines derived from the same Large White population base. Two lines were selected for 6 generations on high ovulation rate at puberty (OR line) or high prenatal survival corrected for ovulation rate in the first 2 parit...

DRIVER (French)

151

Construction and Use of Derivatives of Transposon Tn4001 That Function in Mycoplasma pulmonis and Mycoplasma arthritidis

Dybvig, Kevin; Voelker, LeRoy L.; French, C. Todd

Previous attempts to introduce transposon Tn4001 into Mycoplasma pulmonis and Mycoplasma arthritidis have not been successful, possibly due to functional failure of the transposon's gentamicin resistance determinant. Tn4001C and Tn4001T were constructed, respectively, by insertion of a chloramphenic...

DRIVER (French)

152

Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q

French, A. J.; Hebbring, S. J.; McDonnell, S. K.; Slager, S. L.; Thibodeau, S. N.; Cunningham, J. M.; Schaid, D. J.

Regions on chromosomes 7 and 19 were recently reported to contain susceptibility loci that regulate tumor aggressiveness of prostate cancer. To confirm these findings, we analyzed genome scan data from 161 pedigrees affected with prostate cancer. Using the Gleason score as a quantitative measure of ...

DRIVER (French)

153

Complex relationship between parkin mutations and Parkinson disease

West, A; Periquet, M; Lincoln, S; Lucking, CB; Nicholl, D; Bonifati, V; Rawal, N; Gasser, T; Lohmann, E; Deleuze, JF; Maraganore, D

Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we reevaluat...

DRIVER (French)

154

Committees


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

155

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Dubourg, Christèle; Sanlaville, Damien; Doco-Fenzy, Martine; Le Caignec, Cédric; Missirian, Chantal; Jaillard, Sylvie

Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, develo...

DRIVER (French)

156

Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Pollak, P; Bonnet, A M; Vidailhet, M; Marconi, R; de Broucker, T; De Mari, M; Medjbeur, S; Bonifati, V; De Michele, G

The gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2-27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis ...

DRIVER (French)

157

Characterization of two marker chromosomes in a patient with acute nonlymphocytic leukemia by two-color fluorescence in situ hybridization

Taniwaki, Masafumi; Speicher, Michael R.; Lengauer, Christoph; Jauch, Anna; Popp, Susanne; Cremer, Thomas

A patient with acute nonlymphocytic leukemia (ANLL), M5b according to French-American-British (FAB) classification, showed monosomy 16, an extra 1p−, and a 21q+. These derivative chromosomes could not be defined by GTG-banding. For better characterization, we performed two-color fluorescence in situ...

DRIVER (French)

158

Characterization of the DGAT1 K232A and variable number of tandem repeat polymorphisms in French dairy cattle.

Gautier, M; Capitan, A; Fritz, S; Eggen, A; Boichard, D; Druet, Tom

A quantitative trait locus (QTL) underlying different milk production traits has been identified with a high significance threshold value in the genomic region containing the acylCoA:diacylglycerol acyltransferase (DGAT1) gene, in the 3 main French dairy cattle breeds: French Holstein, Normande, and...

DRIVER (French)

159

Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

Mornet, E; Chateau, C; Simon-Buoy, B; Boue, J; Zielenski, J; Tsui, L-C; Boue, A

We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the delta F508 mutation (i.e. with at least one parent not carrying delta F508)...

DRIVER (French)

160

Cancers de la thyroïde suite aux essais nucléaires en Polynésie Française


... Gustave Roussy, 39 rue Camille Desmoulins, Inserm, Villejuif F-94800, France (2) Institut Gustave Roussy Villejuif F-94800 France (3) Université Paris XI Villejuif F-94800 France (4) International Agency for Research on Cancer Lyon F-69008 France (5) DHHS NIH NCI Division of Cancer Epidemiology and Genetics ...

Institut National de la Sante et de la Recherche Medicale (French)

161

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

162

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

163

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

164

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

165

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

166

Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

167

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

168

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

169

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

170

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

171

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

172

Call for offers for scientific projects / Call for proposals


... A word from the director Collective Expert Reports Health technologies Organization of the Institute Challenges A word from the director Molecular and structural bases of living organisms Organization of the Institute Challenges Cell biology, development and evolution Organization of the Institute Genetics, ...

Institut National de la Sante et de la Recherche Medicale (French)

173

Biblioinserm


Ces bases, actualisées rapidement, permettent de suivre les avancées scientifiques sur une thématique, l'accès à des encyclopédies : Encyclopedia of Life Sciences, Encyclopedia of Molecular Biology, Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, une base de congrès : ISI proceedings ...

Institut National de la Sante et de la Recherche Medicale (French)

174

Association between early-onset Parkinson's disease and mutations in the parkin gene

Lucking, CB; Durr, A; Bonifati, V; Vaughan, J; De Michele, G; Gasser, T; Harhangi, BS; Meco, G; Denefle, P; Wood, NW; Agid, Y

Background: Mutations in the parkin gene have recently been identified in patients with early-onset Parkinson's disease, but the frequency of the mutations and the associated phenotype have not been assessed in a large series of patients.Methods: We studied 73 families in which at least one of the a...

DRIVER (French)

175

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

Martinez, M; Brice, A; Vaughan, JR; Zimprich, A; Breteler, MMB; Meco, G; Filla, A; Farrer, MJ; Betard, C; Singleton, A

Analysis of the apolipoprotein E genotype in sibpairs with Parkinson's disease showed the E4 allele was over represented in those who shared the adjacent chromosome 19 markers. This suggests that apolipoprotein E4 is responsible for the linkage peak in this region and that it is a modest risk factor...

DRIVER (French)

176

Analysis of the Prostate Cancer–Susceptibility Locus HPC20 in 172 Families Affected by Prostate Cancer

French, Amy J.; Thibodeau, Stephen N.; Cooney, Kathleen A.; Peterson, Brett J.; Pavlic, Robert J.; Schaid, Daniel J.

A recent study of hereditary prostate cancer has provided evidence for a prostate cancer–susceptibility locus, HPC20, which maps to 20q13. To assess further the potential contribution of this locus to prostate cancer susceptibility, we studied 172 unrelated families affected by prostate cancer, usin...

DRIVER (French)

177

Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population.

Cheyssac, Claire; Lecoeur, Cécile; Dechaume, Aurélie; Bibi, Amina; Charpentier, Guillaume; Balkau, Beverley; Marre, Michel

BACKGROUND: The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2 diabetes (T2D) in several populations. PTPN1 gene ...

DRIVER (French)

180

A “Fille du Roy” Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians

Macmillan, Carol; Tremblay, Marc; Desjardins, Bertrand; Vézina, Hélène; Laberge, Anne-Marie; Jomphe, Michèle

The predominance of the T14484C mutation in French Canadians with Leber hereditary optic neuropathy is due to a founder effect. By use of genealogical reconstructions of maternal lineages, a woman married in Quebec City in 1669 is identified as the shared female ancestor for 11 of 13 affected indivi...

DRIVER (French)

181

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe

Abbas, N; Lucking, CB; Ricard, S; Durr, A; Bonifati, V; De Michele, G; Bouley, S; Vaughan, JR; Gasser, T; Marconi, R; Broussolle, E

Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias, The gene respon...

DRIVER (French)

182

A study of the relationships between KLF2 polymorphisms and body weight control in a French population.

Meirhaeghe, Aline; Cottel, Dominique; Amouyel, Philippe

BACKGROUND: Factors governing adipose tissue differentiation play a major role in obesity development in humans. The Kr?l-like zinc finger transcription factor KLF2/Lung KLF (LKLF) is a negative regulator of adipocyte differentiation. In this study, we sequenced the human KLF2 gene and several commo...

DRIVER (French)

183

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Baulac, Stéphanie; Gourfinkel-An, Isabelle; Couarch, Philippe; Depienne, Christel; Kaminska, Anna; Dulac, Olivier

BACKGROUND: Generalized epilepsy with febrile seizures plus (GEFS(+)) is a familial autosomal dominant entity characterized by the association of febrile and afebrile seizures. Mutations in 3 genes--the sodium channel alpha1 subunit gene (SCN1A), the sodium channel beta1 subunit gene (SCN1B), and th...

DRIVER (French)

184

A mouse model for the cystic fibrosis delta F508 mutation

Doorninck, J.H. van; French, P.J.; Verbeek, E.; Peters, R.H.; Morreau, H.; Bijman, J.; Scholte, B.J.

Most cystic fibrosis (CF) patients produce a mutant form (delta F508) of the cystic fibrosis transmembrane conductance regulator (CFTR), which is not properly processed in normal cells but is active as a chloride channel in several experimental systems. We used a double homologous recombination ('Hi...

DRIVER (French)

185

A genetic study of two French Guiana amerindian populations : 1-Serum proteins and red cell enzymes

Tchen, P.; Bois, E.; Séger, J.; Grenand, Pierre; Feingold, N.; Feingold, J.

DRIVER (French)

186

A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34

Paternotte, Caroline; Fontaine, Bertrand; Dürr, Alexandra; Davoine, Claire-Sophie; Feki, Imed; Brice, Alexis; Weissenbach, Jean

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causi...

DRIVER (French)

187

Watt, G.F.; Goel, D.E.; Wilcox, D.E.; Connor, J.M.

No abstract available.

DRIVER (French)

188

Pontecorvo, G.

DRIVER (French)

189

Pontecorvo, G.

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190

330172p-p2ouvrage


Santé des enfants et des adolescents Propositions pour la préserver ISBN 2-85598-813-6 (C) Les éditions Inserm, 2003 101 rue de Tolbiac, 75013 Paris Dans la collection Expertise collective ¬ Hépatites virales. Dépistage, prévention, traitement. 1997 ¬ Grande prématurité. Dépistage et prévention du risque. ...

Institut National de la Sante et de la Recherche Medicale (French)