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
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
Marguerite Miguet,Julien Thevenon,Vincent Laugel,Mathilde Lefebvre,Aurélie Bourchany,Jean-Baptiste Rivière,Yannis Duffourd,Elise Schaefer,Maria Cristina Antal,Rosalie Abida,A. S. Weingertner,Valérie Kremer,Pierre Vabres,Fanny Morice-Picard,Marie Gonzales,Dan Lipsker,Sylvie Fraitag,Jean-Louis Mandel,Jamel Chelly,Hélène Dollfus,Laurence Faivre,Christel Thauvin-Robinet,Nadège Calmels,Salima El Chehadeh +23 more
TL;DR: Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features Marguerite Miguet, Julien Thevenon, Vincent Laugel, Mathilde Lefebvre, Aurélie Bourchany, Jean-Baptiste Rivière, Yannis Duffourd, Elise Schaefer, Maria Cristina Antal, Rosalie Abida and Anne-Sophie Weingertner.
Posted ContentDOI
Sex-specific impact of prenatal androgens on intrinsic functional connectivity between social brain default mode subsystems
Michael V. Lombardo,Bonnie Auyeung,Tiziano Pramparo,Angélique Quartier,Jérémie Courraud,Rosemary Holt,Jack Waldman,Amber N. V. Ruigrok,Natasha Mooney,Meng-Chuan Lai,Prantik Kundu,Edward T. Bullmore,Jean-Louis Mandel,Amélie Piton,Simon Baron-Cohen +14 more
TL;DR: This work highlights sex-specific prenatal androgen influence on social brain DMN circuitry and autism-related mechanisms and suggests that such influence may impact early neurodevelopmental processes (e.g., neurogenesis, cell differentiation) and later developing synaptic processes.
Journal ArticleDOI
Réflexions éthiques sur le dépistage génétique préconceptionnel en population générale : le débat français et l’avis de la Société Française de Médecine Prédictive et Personnalisée
P. Pujol,S. Fodil-Chérif,Jean-Louis Mandel,Bernard Baertschi,Bernard Baertschi,Damien Sanlaville,Damien Sanlaville,Daniel Zarca,A. Toledano,P. Bloch,David Geneviève +10 more
TL;DR: In this article, les questions ethiques discutees en France par le "Conseil Consultatif National d'Ethique" and le parlement, and donnons l'avis de la Societe Francaise de Medecine Predictive and Personnalisee (SFMPP) are aborded les questions and opinions on the possibilite d'etendre le DPC a partir de questionnaires adresses a un echantillon de la population generale lors de la consultation citoyenne.
Journal Article
FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?
Sarah L. Nolin,François Rousseau,George E. Houck,A. D. Gargano,Biancalana,L Hinkle,Helle Hjalgrim,Elke Holinski-Feder,F Kooy,John W. Longshore,James N. Macpherson,Jean-Louis Mandel,Gert Matthijs,Stephanie L. Sherman,Peter Steinbach,Marja-Leena Väisänen,H von Koskull,W. T. Brown +17 more