Moutel, Grégoire Duchange, Nathalie Raffi, François Sharara, Lama I Théodorou, Ioannis Noël, Violaine de Montgolfier, Sandrine Callies, Ingrid Bricaire, François Hervé, Christian
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Published in
Stem cells international
The aim of pharmacogenetic studies is to adapt therapeutic strategies to individual genetic profiles, thus maximising their efficacy and minimising the likelihood of adverse side effects. Since the advent of personalised medicine, the issue of communicating research results to participants has become increasingly important. We addressed this questi...
Poirier, Karine Viot, Géraldine Lombardi, Laura Jauny, Clémence Pierre Billuart Thierry Bienvenu
Published in
European Journal of Human Genetics
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family wi...
Hélène Cave Caye, Aurélie Ghedira, Nehla Capri, Yline Pouvreau, Nathalie Fillot, Natacha Trimouille, Aurélien Vignal, Cédric Fenneteau, Odile Alembik, Yves
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Published in
European Journal of Human Genetics
Noonan syndrome is a heterogeneous autosomal dominant disorder caused by mutations in at least eight genes involved in the RAS/MAPK signaling pathway. Recently, RIT1 (Ras-like without CAAX 1) has been shown to be involved in the pathogenesis of some patients. We report a series of 44 patients from 30 pedigrees (including nine multiplex families) wi...
