Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Sebastien Moutton, Martin Chevarin, Nada Houcinat, Sophie Nambot, Yannis Duffourd, Laurence Faivre, Anne-Laure Mosca-Boidron, François Lecoquierre, Christel Thauvin-Robinet, Julian Delanne, Alice Masurel-Paulet, Arthur Sorlin, Charlotte Poe, Caroline Racine, Marjolaine Willems, Julien Thevenon, Steven A. Kushner, David Geneviève, Ange-Line Bruel, Patrick Callier, Frédéric Tran Mau-Them, Christophe Philippe, Emilie Tisserant, Thibaut Jouan, Christine Coubes, Antonio Vitobello, Nolwenn Jean-Marçais, Daphné Lehalle, Femke M.S. de Vrij
Publikováno v:
Human Genetics, 139(11), 1381-1390. Springer-Verlag
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes in
Autor:
Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parental DNA poo
Autor:
Aurore Pélissier, Anne-Laure Mosca-Boidron, Thibaud Jouan, Elodie Cretin, Maxime Luu, Pierre Vabres, Jean-François Deleuze, Chritine Peyron, Nolwenn Jean-Marçais, Julien Thevenon, Christine Binquet, Frédéric Tran Mau-Them, Ange-Line Bruel, Patrick Callier, Elodie Gautier, Laurent Demougeot, Daphné Lehalle, Christophe Philippe, Paul Kuentz, Martin Chevarin, Sophie Nambot, Aline Chassagne, Charlotte Poe, Christel Thauvin-Robinet, Mathilde Lefebvre, Marc Bardou, Céline Verstuyft, Antonio Vitobello, Laurence Faivre, Julian Delanne, Emilie Tisserant, Arthur Sorlin, Yannis Duffourd
Publikováno v:
Eur J Hum Genet
With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluat
Autor:
Thomas Rolland, Marion Leboyer, Isabelle Cloëz-Tayarani, Stephen W. Scherer, Laurence Faivre, Matthew J. Gazzellone, Marc Delepine, Marina Konyukh, Anne-Laure Mosca-Boidron, Anna Maruani, Martine François, Guillaume Huguet, Ryan K. C. Yuen, Béatrice Regnault, Thomas Bourgeron, Dominique Bonneau, Maria Råstam, Kazutada Watanabe, Marion Benabou, Anne Danckaert, J Van-Gils, Richard Delorme, Yasushi Shimoda, Susan Walker, Gwenaëlle André-Leroux, Marco Bellinzoni, Anita Beggiato, Laura Gouder, Anne Boland, T Van Den Abbeele, Christopher Gillberg, Frédérique Amsellem, Alexandre Mathieu, J-P Bourgeois, Oriane Mercati, Julien Buratti
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 2017, 22 (4), pp.625-633. ⟨10.1038/mp.2016.61⟩
Molecular Psychiatry, Nature Publishing Group, 2017, 22 (4), pp.625-633. ⟨10.1038/mp.2016.61⟩
Molecular Psychiatry, Nature Publishing Group, 2017, 22 (4), pp.625-633. 〈10.1038/mp.2016.61〉
Molecular Psychiatry, 2017, 22 (4), pp.625-633. ⟨10.1038/mp.2016.61⟩
Molecular Psychiatry, Nature Publishing Group, 2017, 22 (4), pp.625-633. ⟨10.1038/mp.2016.61⟩
Molecular Psychiatry, Nature Publishing Group, 2017, 22 (4), pp.625-633. 〈10.1038/mp.2016.61〉
International audience; Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism
Autor:
Frédéric Huet, Lucie Gueneau, Christel Thauvin-Robinet, Jean-Michel Pinoit, Patrick Callier, Laurence Faivre, Francine Mugneret, C. Henry, Muriel Payet, Nathalie Marle, Philippe Jonveaux, Mylène Valduga, Mylène Béri-Deixheimer, Nathalie Lagarde, Clémence Ragon, Anne-Laure Mosca-Boidron
Publikováno v:
American Journal of Medical Genetics Part A. 161:1505-1507