O
Olivier Roche
Researcher at Paris Descartes University
Publications - 79
Citations - 2118
Olivier Roche is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Population & Mutation. The author has an hindex of 20, co-authored 76 publications receiving 1909 citations. Previous affiliations of Olivier Roche include Necker-Enfants Malades Hospital.
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Journal ArticleDOI
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Yvonne Nitschke,Geneviève Baujat,Ulrike Botschen,Tanja Wittkampf,Marcel du Moulin,Jacqueline Stella,Martine Le Merrer,Guest G,K Lambot,Marie-Frederique Tazarourte-Pinturier,Nicolas Chassaing,Olivier Roche,Ilse Feenstra,Karen J. Loechner,Charu Deshpande,Samuel J. Garber,Rashmi Chikarmane,Beat Steinmann,Tatevik Shahinyan,Loreto Martorell,Justin H Davies,Wendy E. Smith,Stephen G. Kahler,Mignon McCulloch,Elizabeth Wraige,Lourdes Loidi,Wolfgang Höhne,Ludovic Martin,Smail Hadj-Rabia,Robert Terkeltaub,Frank Rutsch +30 more
TL;DR: Based on the considerable overlap of genotype and phenotype of GACI and PXE, both entities appear to reflect two ends of a clinical spectrum of ectopic calcification and other organ pathologies, rather than two distinct disorders.
Journal ArticleDOI
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 Article
Spectrum of NPHP6 (CEP290) Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype
Isabelle Perrault,Nathalie Delphin,Sylvain Hanein,Sylvie Gerber,J.L. Dufier,Olivier Roche,Hé. Dollfus,Arnold Munnich,J. C. Kaplan,Jean-Michel Rozet +9 more
TL;DR: In this paper, the NPHP6/CEP290 gene was found to represent a frequent cause of isolated Leber congenital amaurosis (LCA) in European descent.
Journal ArticleDOI
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Isabelle Perrault,Sophie Saunier,Sylvain Hanein,Emilie Filhol,Albane A. Bizet,Felicity Collins,Mustafa A. Salih,Sylvie Gerber,Nathalie Delphin,Karine Bigot,Christophe Orssaud,Eduardo Silva,Véronique Baudouin,Machteld M. Oud,Nora Shannon,Martine Le Merrer,Olivier Roche,Christine Pietrement,Jamal Goumid,Clarisse Baumann,Christine Bole-Feysot,Patrick Nitschke,Mohammed Zahrate,Philip L. Beales,Heleen H. Arts,Arnold Munnich,Josseline Kaplan,Corinne Antignac,Valérie Cormier-Daire,Jean-Michel Rozet +29 more
TL;DR: Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.
Journal ArticleDOI
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Valérie Pelletier,Marguerite Jambou,Nathalie Delphin,Elena Zinovieva,Morgane Stum,Nadine Gigarel,Hélène Dollfus,Christian P. Hamel,Annick Toutain,Jean-Louis Dufier,Olivier Roche,Arnold Munnich,Jean-Paul Bonnefont,Josseline Kaplan,Jean-Michel Rozet +14 more
TL;DR: Interestingly, about 30% of male sporadic cases and 30%of male sibships of RP carried RP2 or RPGR mutations, confirming the pertinence of the genetic screening of XLRP genes in male patients affected with RP commencing in the first decade and leading to profound visual impairment before the age of 30 years.