L
Laurence Faivre
Researcher at French Institute of Health and Medical Research
Publications - 83
Citations - 2186
Laurence Faivre is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Exome sequencing & Microcephaly. The author has an hindex of 21, co-authored 83 publications receiving 1737 citations. Previous affiliations of Laurence Faivre include University of Lausanne & University of Burgundy.
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Journal ArticleDOI
Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
Christel Thauvin-Robinet,Mireille Cossée,Valérie Cormier-Daire,L. Van Maldergem,Annick Toutain,Yves Alembik,Eric Bieth,Valérie Layet,Philippe Parent,Albert David,Alice Goldenberg,Geert Mortier,Delphine Héron,Paul Sagot,A M Bouvier,Frédéric Huet,Veronica Cusin,Anne Donzel,D. Devys,Jean-Raymond Teyssier,Laurence Faivre +20 more
TL;DR: Slight phenotype–genotype correlations were established, andX inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.
Journal ArticleDOI
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Christel Thauvin-Robinet,Anne Munck,F. Huet,Emmanuelle Génin,G. Bellis,Elodie Gautier,Marie-Pierre Audrézet,Claude Férec,Guy Lalau,Georges,Mireille Claustres,T Bienvenu,Bénédicte Gérard,Pierre Boisseau,Cabet-Bey F,Delphine Feldmann,Christine Clavel,Eric Bieth,A Iron,Brigitte Simon-Bouy,Catherine Costa,R. Medina,J. Leclerc,Dominique Hubert,Raphaele Nove-Josserand,Isabelle Sermet-Gaudelus,Gilles Rault,J. Flori,Sylvie Leroy,N. Wizla,Gabriel Bellon,A. Haloun,S. Perez-Martin,d'Acremont G,Harriet Corvol,Annick Clement,E. Houssin,Christine Binquet,Claire Bonithon-Kopp,C. Alberti-Boulmé,Michael A. Morris,Laurence Faivre,Michel Goossens,M Roussey,Emmanuelle Girodon +44 more
TL;DR: It is suggested that R117H should be withdrawn from CF mutation panels used for screening programmes and the real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes.
Journal ArticleDOI
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
Marlène Rio,L Clech,Jeanne Amiel,Laurence Faivre,Stanislas Lyonnet,M. Le Merrer,Sylvie Odent,Didier Lacombe,Patrick Edery,Raja Brauner,Odile Raoul,P. Gosset,Marguerite Prieur,Michel Vekemans,Arnold Munnich,Laurence Colleaux,Valérie Cormier-Daire +16 more
TL;DR: It is concluded that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases and Interestingly, mental retardation was consistently more severe in patients with N SD1 deletions.
Journal ArticleDOI
Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype
Laurence Faivre,Valérie Cormier-Daire,Jean-Michel Lapierre,Laurence Colleaux,Sébastien Jacquemont,David Geneviève,P Saunier,Arnold Munnich,Catherine Turleau,S. Romana,Marguerite Prieur,M.C. de Blois,Michel Vekemans +12 more
TL;DR: A fifth case of Prader-Willi-like phenotype associated with an interstitial chromosome 6q deletion (6q16.1-q21) detected only by high resolution banding techniques suggests that a subgroup of patients with features reminiscent of Praders- willi syndrome and aninterstitial deletion of chromosome 6Q16.2 could be delineated.
Journal ArticleDOI
Delineation of 15q13.3 microdeletions.
Alice Masurel-Paulet,Joris Andrieux,P. Callier,Jean-Marie Cuisset,C Le Caignec,Muriel Holder,Christel Thauvin-Robinet,Bérénice Doray,Elisabeth Flori,MP Alex-Cordier,Mylène Beri,Odile Boute,Bruno Delobel,Anne Dieux,Louis Vallée,Sylvie Jaillard,Sylvie Odent,Bertrand Isidor,Claire Beneteau,J Vigneron,Frédéric Bilan,Brigitte Gilbert-Dussardier,C Dubourg,Audrey Labalme,C Bidon,Agnès Gautier,P Pernes,J.-M. Pinoit,F. Huet,Francine Mugneret,Bernard Aral,Philippe Jonveaux,D Sanlaville,Laurence Faivre +33 more
TL;DR: Masurel‐Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin‐Robinet C, Doray B, Flori E, Alex‐Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J