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 ArticleDOI
NUFIP1 (Nuclear FMRP Interacting Protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes
Barbara Bardoni,Rob Willemsen,Ivan Jeanne Weiler,Annette Schenck,Lies-Anne Severijnen,Colette Hindelang,Enzo Lalli,Jean-Louis Mandel +7 more
TL;DR: The involvement of NUFIP1 in the export and localization of mRNA and, in association with FMRP, in the regulation of local protein synthesis nearsynaptic sites of protein synthesis as a part of a multiprotein/mRNA complex is suggested.
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Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.
Pascal Pujol,Massimo Barberis,Philp Beer,Eitan Friedman,Eitan Friedman,Josep M. Piulats,Ettore D. Capoluongo,Jesus Garcia Foncillas,Isabelle Ray-Coquard,Frédérique Penault-Llorca,William D. Foulkes,Clare Turnbull,Helen Hanson,Steven A. Narod,Banu Arun,Matti Aapro,Jean-Louis Mandel,Nicola Normanno,Diether Lambrechts,Ignace Vergote,Michèle Anahory,Bernard Baertschi,Karen Baudry,Yves-Jean Bignon,Marc Bollet,Carole Corsini,Olivier Cussenot,Thibault De La Motte Rouge,Marie Duboys de Labarre,Florence Duchamp,Clarisse Duriez,Karim Fizazi,Virginie Galibert,Laurence Gladieff,Joseph Gligorov,Pascal Hammel,Marion Imbert-Bouteille,William Jacot,Tatiana Kogut-Kubiak,Pierre Jean Lamy,Sophie Nambot,Yann Neuzillet,Sylviane Olschwang,Xavier Rebillard,Jean Marc Rey,Chloé Rideau,Jean Philippe Spano,Frédéric Thomas,Isabelle Treilleux,Marion Vandromme,Julie A. Vendrell,Michèle Vintraud,Daniel Zarca,Kevin S. Hughes,Jose E. Alés Martínez +54 more
TL;DR: In this paper, the integrative recommendations for BRCA testing presented here aim to identify individuals who may benefit from genetic counselling and risk-reducing strategies; update germline and tumour-testing indications for PARPi-approved therapies; and provide testing recommendations for personalised management of early and metastatic breast cancer.
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Striking founder effect for the fragile X syndrome in Finland.
TL;DR: A striking founder effect much stronger than the linkage disequilibrium observed previously in other more heterogeneous populations is reported, suggesting that the broad geographic origin of the high-risk haplotype suggest that it was present in initial settlers of Finland, and could thus have been carried silently through 100 generations.
Journal ArticleDOI
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Amélie Piton,Amélie Piton,Hélène Poquet,Claire Redin,Claire Redin,Alice Masurel,Julia Lauer,Jean Muller,Julien Thevenon,Yvan Herenger,Sophie Chancenotte,Marlène Bonnet,Jean-Michel Pinoit,Frédéric Huet,Christel Thauvin-Robinet,Anne-Sophie Jaeger,Stéphanie Le Gras,Bernard Jost,Bénédicte Gérard,Katell Peoc'h,Jean-Marie Launay,Laurence Faivre,Jean-Louis Mandel,Jean-Louis Mandel +23 more
TL;DR: The identification of this new point mutation confirms, for the first time since 1993, the monogenic implication of the MAOA gene in ID of various degrees, autism and behavioral disturbances.
Journal ArticleDOI
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
Elise Schaefer,Corinne Stoetzel,Sophie Scheidecker,Véronique Geoffroy,Megana K. Prasad,Claire Redin,Isabelle Missotte,Didier Lacombe,Jean-Louis Mandel,Jean-Louis Mandel,Jean Muller,Hélène Dollfus +11 more
TL;DR: This is the second report of IFT172 mutations in BBS patients validating IFT 172 as the twentieth BBS gene (BBS20), and another IFT gene, IFT27, was already associated with BBS, confirming the implication of I FT genes in the pathogenesis of BBS.