J
Jean-Louis Dufier
Researcher at Necker-Enfants Malades Hospital
Publications - 126
Citations - 4839
Jean-Louis Dufier is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Retinitis pigmentosa & Gene. The author has an hindex of 36, co-authored 125 publications receiving 4555 citations. Previous affiliations of Jean-Louis Dufier include Paris Descartes University & University of Paris.
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Journal ArticleDOI
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein,Isabelle Perrault,Sylvie Gerber,Gaëlle Tanguy,Fabienne Barbet,Dominique Ducroq,Patrick Calvas,Hélène Dollfus,Christian P. Hamel,Tuija Löppönen,Francis L. Munier,Louisa Santos,Stavit A. Shalev,Dimitrios I. Zafeiriou,Jean-Louis Dufier,Arnold Munnich,Jean-Michel Rozet,Josseline Kaplan +17 more
TL;DR: A comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases, and decisional flowcharts directing the molecular analysis of LCA genes in a given case are drawn.
Journal ArticleDOI
Leber Congenital Amaurosis
Isabelle Perrault,Jean-Michel Rozet,Sylvie Gerber,Imad Ghazi,Corinne Leowski,Dominique Ducroq,Eric Souied,Jean-Louis Dufier,Arnold Munnich,Josseline Kaplan +9 more
TL;DR: All clinical physiopathological discrepancies were reexamined and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations have been strongly suggested for congenitals severe but progressive rod-cone dystrophies.
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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault,Nathalie Delphin,Sylvain Hanein,Sylvie Gerber,Jean-Louis Dufier,Olivier Roche,Sabine Defoort-Dhellemmes,Hélène Dollfus,Elisa Fazzi,Arnold Munnich,Josseline Kaplan,Jean-Michel Rozet +11 more
TL;DR: It is shown that all patients were affected with the cone‐rod subtype of the disease whatever their NPHP6/CEP290 genotype, and conversely to other LCA genes, N PHP6 is involved in families of European descent only.
Journal ArticleDOI
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Isabelle Perrault,Sylvain Hanein,Sylvie Gerber,Fabienne Barbet,Dominique Ducroq,Hélène Dollfus,Christian P. Hamel,Jean-Louis Dufier,Arnold Munnich,Josseline Kaplan,Jean-Michel Rozet +10 more
TL;DR: Studying a series of 110 unrelated patients with LCA, the authors found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%).
Journal ArticleDOI
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.
Josseline Kaplan,Sylvie Gerber,D. Larget-Piet,Jean-Michel Rozet,Hélène Dollfus,Jean-Louis Dufier,Sylvie Odent,Anne Postel-Vinay,Nicolas Janin,Marie-Louise Briard,Jean Frézal,Arnold Munnich +11 more
TL;DR: Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66), consistent with the genetic homogeneity of Stargardt's disease.