Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Imad Ghazi"'
Autor:
Imad Ghazi, Isabelle Perrault, Nicolas Goudin, Jean-Michel Rozet, Josseline Kaplan, Sabine Defoort-Dhellemmes, Iris Barny, Christel Michel, Xavier Gérard
Publikováno v:
Genes, Vol 10, Iss 5, p 368 (2019)
Genes, vol. 10, no. 5
Genes, vol. 10, no. 5
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies. In recent years, endogenous and/or selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d1b3289409a8e17d29649a47b30231
https://www.mdpi.com/2073-4425/10/5/368
https://www.mdpi.com/2073-4425/10/5/368
Autor:
Iris, Barny, Isabelle, Perrault, Christel, Michel, Nicolas, Goudin, Sabine, Defoort-Dhellemmes, Imad, Ghazi, Josseline, Kaplan, Jean-Michel, Rozet, Xavier, Gerard
Publikováno v:
Genes
Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies. In recent years, endogenous and/or selective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a868b258d0af3baea4fd529e6cc7146f
https://pubmed.ncbi.nlm.nih.gov/31091803
https://pubmed.ncbi.nlm.nih.gov/31091803
Autor:
Arnold Munnich, Jean-Michel Rozet, Isabelle Perrault, Sylvain Hanein, Jean-Louis Dufier, Imad Ghazi, Dominique Martin-Coignard, Corinne Leowski, Josseline Kaplan, Tessa Homfray, Fabienne Barbet, Dominique Ducroq, Sylvie Gerber
Publikováno v:
European Journal of Human Genetics. 9:561-571
Leber congenital amaurosis (LCA) is a genetically heterogeneous autosomal recessive condition responsible for congenital blindness or greatly impaired vision since birth. So far, six LCA loci have been mapped but only 4 out of 6 genes have been ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b8095a3254ba8f73346e76f080a322
https://doi.org/10.1038/sj.ejhg.5200689
https://doi.org/10.1038/sj.ejhg.5200689
Autor:
Eric Souied, Imad Ghazi, Dominique Ducroq, Sylvie Gerber, Arnold Munnich, Jean-Louis Dufier, Josseline Kaplan, Corinne Leowski, Jean-Michel Rozet, Isabelle Perrault
Publikováno v:
Molecular Genetics and Metabolism. 68:200-208
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___::8f502b45c318d4dd800602b8bc0788a1
https://doi.org/10.1006/mgme.1999.2906
https://doi.org/10.1006/mgme.1999.2906
Autor:
Jean-Michel Rozet, Gabriel Coscas, Dominique Ducroq, Sylvie Gerber, Josseline Kaplan, Eric Souied, Jean Louis Dufier, Imad Ghazi, Gisèle Soubrane, Arnold Munnich, Isabelle Perrault
Publikováno v:
American Journal of Ophthalmology. 128:173-178
PURPOSE: To report clinical features and molecular genetic study in three unrelated families in which age-related macular degeneration was observed in grandparents of patients with Stargardt disease. METHODS: A complete ophthalmologic examination inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac64e1490ce3554caf50304ba4d56cbe
https://doi.org/10.1016/s0002-9394(99)00145-2
https://doi.org/10.1016/s0002-9394(99)00145-2
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:
Jean-Louis Dufier, Gisèle Soubrane, Jean-Michel Rozet, Isabelle Perrault, Imad Ghazi, Gabriel Coscas, Josseline Kaplan, Annick Cabot, Dominique Ducroq, Sylvie Gerber, Eric H Souied, Arnold Munnich
Publikováno v:
Retinal Degenerative Diseases and Experimental Therapy ISBN: 9780306461934
Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the photoreceptor cell-specific ATP binding trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2914f6154b7f83fb470d94eba8e7d8ed
https://doi.org/10.1007/978-0-585-33172-0_16
https://doi.org/10.1007/978-0-585-33172-0_16
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