Výsledky vyhledávání - "Marie Claude Vinet"

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Publikováno v: Scopus-Elsevier
Human Molecular Genetics, 11, 8, pp. 981-91
Human Molecular Genetics, 11, 981-91

Contains fulltext : 185243.pdf (Publisher’s version ) (Closed access) Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f77933f357f1180e7690947f4efb75a
https://doi.org/10.1093/hmg/11.8.981

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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Autor: Pierre Billuart, Axel Kahn, Elisabeth Dupuis, Yoheved Berwald-Netter, Marie Claude Vinet, Jean Marc Pinard, Annette Koulakoff, Jamel Chelly, Cherif Beldjord, Alain Carrié, Vincent des Portes, Antoinette Gelot, Martin Catala, Jacques Motte

Publikováno v: Cell. 92:51-61

X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3300dadec0278ab6f8590a94030a8e2f
https://doi.org/10.1016/s0092-8674(00)80898-3

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Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

Autor: Axel Kahn, Marie Claude Vinet, Vincent des Portes, Jamel Chelly, Alain Carrié, Cherif Beldjord, Pierre Billuart, G Ponsot, Thierry Bienvenu, Joëlle Boué, Nadem Soufir

Publikováno v: American Journal of Medical Genetics. 72:324-328

We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61244aa1f256ddc68c2a63f9758ce755
https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co

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Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

Autor: Kemal Azlbi, Luclen Bachner, Jacques S.Beckmann, Kllchlro Matsumura, Elhadl Hamouda, Mallka Chaouch, Athmane Chaouch, Rachlda Alt-Ouarab, Alaln Vlgnal, Jean Welssenbach, Marie-Claude Vinet, France Leturcq, Huguette Collln, Fernando M.S.Tomé, Abderrezak Reghis, Michel Fardeau, Kevin P.Campbell, Jean-Claude Kaplan

Publikováno v: Human Molecular Genetics. 2:1423-1428

We have recently demonstrated the specific deficiency for the 50 kDa dystrophin-associated glycoprotein (50DAG) in Algerian patients afflicted with severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD). A similar di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7b115908c49bac2061c1f88046e0b9
https://doi.org/10.1093/hmg/2.9.1423

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Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor

Autor: Hans-Hilger Ropers, Hans van Bokhoven, Alain Carrié, Marie Claude Vinet, Thierry Bienvenu, Jamel Chelly, Axel Kahn, Jean Pierre Fryns, Cherif Beldjord, Vincent des Portes, Daniela Toniolo, Anne de Saint Martin, Claude Moraine, N. McDonell, Philippe Couvert, Pierre Billuart

Publikováno v: Human Molecular Genetics, 7, 8, pp. 1311-1315
Human Molecular Genetics, 7, 1311-1315

Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4bf3d37dc6f4d196e1762dbbd5f067
https://hdl.handle.net/2066/188811

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Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

Autor: Dominique Chevet, Marie Claude Vinet, Jean Daniel Sraer, Lucien Bachner, Eric Rondeau, Roger Lacave, Marie Claude Babron, Jean-Claude Kaplan

Publikováno v: Human Genetics. 85

We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::614a4c5b801fb4858ad9c598647bcb44
https://doi.org/10.1007/bf00193200

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Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family

Autor: Jacques Rochette, Lucien Bachner, Nicole Monnier, Olivier Pascal, Marie Claude Vinet, Catherine Dodé

Publikováno v: Human genetics. 83(1)

We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and alpha-4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3'HVR and 24-1) linked to ADPKD on locus PKD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1099bc0e967bfc302134652d5aae0a82
https://pubmed.ncbi.nlm.nih.gov/2767679

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