J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal Article
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
Susan Chamberlain,Martin Farrall,Jacqui Shaw,David Wilkes,Jaime J. Carvajal,Renate Hillerman,K Doudney,A. E. Harding,Robert Williamson,G Sirugo,Ricardo Fujita,Michel Koenig,Jean-Louis Mandel,Francisco Palau,Eugenia Monros,Juan J. Vílchez,Félix Prieto,Andrea Richter,Michel Vanasse,Serge B. Melançon,Sergio Cocozza,Elena Redolfi,F Cavalcanti,Luigi Pianese,Allesandro Filla,Stefano DiDonato,Massimo Pandolfo +26 more
TL;DR: Recombination events are reported which indicate that the FRDA locus is located centromeric to the D9S15/D9S5 linkage group, with the most probable order being cen-FRDA-D 9S5-D9 S15-qter, but orientation of the markers with respect to the centromere, critical to the positional cloning strategy, remains to be resolved definitively.
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Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Oussama M’Hamdi,Claire Redin,Corinne Stoetzel,Ines Ouertani,M. Chaabouni,Faouzi Maazoul,R. M’rad,Jean-Louis Mandel,Jean-Louis Mandel,Hélène Dollfus,Jean Muller,H. Chaabouni +11 more
TL;DR: The mutations profile of BBS genes in Tunisia is expanded and a divergence of the genetic spectrum comparing Tunisian and other populations is suggested.
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X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers
Ling-Jia Hu,Jocelyn Laporte,Petra Kioschis,Sandra Heyberger,Christine Kretz,Annemarie Poustka,Jean-Louis Mandel,Niklas Dahl +7 more
TL;DR: Two new polymorphic microsatellite markers, DXS8377 and DXS7423, that were physically mapped within the critical interval are reported that were significant for positional cloning of the myotubular myopathy gene.
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Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
TL;DR: The structure of myotubularin, the molecular mechanisms of its function and its implication in the etiology of XLMTM will be discussed, as well as the potential function and role of the other members of the family.
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Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.
TL;DR: A new linkage analysis using microsatellites (including new Genethon markers) in the two most informative families with non-specific X-linked mental retardation (XLMR) is performed.