Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Michèle Bonnemaison"'
Autor:
Josseline Kaplan, Annick Cabot, Michèle Bonnemaison, Isabelle Perrault, Jean-Michel Rozet, Imad Ghazi, Jean-Louis Dufier, Corinne Leowski, Arnold Munnich, Eric Souied, Dominique Ducroq, Sylvie Gerber
Publikováno v:
The American Journal of Human Genetics. 64:1225-1228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c11f508aa02ea946304c678dec4af6d
https://doi.org/10.1086/302335
https://doi.org/10.1086/302335
Autor:
Agnès Camuzat, Hélène Dollfus, Eric H Souied, Sophie Châtelin, Isabelle Perrault, Le Paslier D, Arnold Munnich, Imad Ghazi, Corinne Leowski, J.L. Dufier, J. C. Kaplan, Michèle Bonnemaison, Jean-Michel Rozet, P Calvas, Steven J. Pittler, Jean Frézal, Sylvie Gerber
Publikováno v:
Nature Genetics. 14:461-464
Leber's congenital amaurosis (LCA, MIM 2040001), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies2,3. This autosomal recessive condition is usually recognized at birth or during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec4b737de42fbc719e8b9695c456ef7
https://doi.org/10.1038/ng1296-461
https://doi.org/10.1038/ng1296-461
Autor:
Michèle Bonnemaison, Jean-Louis Dufier, Corinne Leowski, Marie-Louise Briard, Hélène Dollfus, Dominique Bonneau, Jean-Michel Rozet, Sylvie Gerber, Jean Frézal, Josseline Kaplan, Agnès Camuzat, Jean Weissenbach, Imad Ghazi, Arnold Munnich
Publikováno v:
Human Molecular Genetics. 4:1447-1452
Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the firs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec01b09fce03cb76007e2b111e331d16
https://doi.org/10.1093/hmg/4.8.1447
https://doi.org/10.1093/hmg/4.8.1447
Autor:
Dominique Ducroq, Sylvie Gerber, Imad Ghazi, Jean-Michel Rozet, Eric Souied, Jean-Louis Dufier, Michèle Bonnemaison, Corinne Leowski, Arnold Munnich, Josseline Kaplan, Isabelle Perrault
Publikováno v:
European journal of human genetics : EJHG. 8(8)
Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0b752930fb7316d3998a391894b8952
https://pubmed.ncbi.nlm.nih.gov/10951519
https://pubmed.ncbi.nlm.nih.gov/10951519