D
Dominique Ducroq
Researcher at French Institute of Health and Medical Research
Publications - 26
Citations - 1930
Dominique Ducroq is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Retinitis pigmentosa & Gene mutation. The author has an hindex of 20, co-authored 26 publications receiving 1864 citations. Previous affiliations of Dominique Ducroq include Necker-Enfants Malades Hospital.
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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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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
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Sylvie Gerber,Isabelle Perrault,Sylvain Hanein,Fabienne Barbet,Dominique Ducroq,Imad Ghazi,Dominique Martin-Coignard,Corinne Leowski,Tessa Homfray,Jean-Louis Dufier,Arnold Munnich,Josseline Kaplan,Jean-Michel Rozet +12 more
TL;DR: The complete exon-intron structure of the RPGRIP1 gene is determined, which accounts for eight out of 142 LCA cases in this series and is responsible for congenital blindness or greatly impaired vision since birth.
Journal ArticleDOI
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
Isabelle Perrault,Jean-Michel Rozet,Sylvie Gerber,Imad Ghazi,Dominique Ducroq,Eric Souied,Corinne Leowski,Michèle Bonnemaison,Jean-Louis Dufier,Arnold Munnich,Josseline Kaplan +10 more
TL;DR: Screening of the whole coding sequence of the retGC1 gene in 118 patients affected with LCA found 22 different mutations in 24 unrelated families originating from various countries of the world, confirming the previous genotype–phenotype correlations the authors were able to establish.