Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson
Publikováno v:
Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this p
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:
Jill A. Rosenfeld, Vijay Kumar, Alessandra Renieri, Alexandre Reymond, Charles E. Schwartz, Claire Beneteau, Emily Huber, Katrin Männik, Cédric Le Caignec, Anne Laure Mosca-Boidron, Aurora Currò, Teresa Mattina, Paolo Prontera, Corrado Romano, Damian Pazuchanics, Erik A. Sistermans, Dominique Martin-Coignard, Lucia Castiglia, Luana Mandarà, Kate Pope, Pawel Stankiewicz, Matthew Jensen, Mathilde Lefebvre, Anke Van Dijck, Laurence Faivre, Sau Wai Cheung, R. Frank Kooy, Sophie Blesson, Nathalie Marle, Marie Vincent, Bertrand Isidor, Marco Fichera, Emanuela Avola, Ornella Galesi, Joris Andrieux, Jean-Hubert Caberg, Cindy Skinner, Sandra Mercier, Małgorzata J.M. Nowaczyk, Mathilde Nizon, Susan Zeesman, David J. Amor, Els Voorhoeve, Santhosh Girirajan, Andrew Polyak, Maja Bucan, Boris Keren, Elizabeth McCready, Olivier Pichon, Francesca Mari, Ji-eun Yoon, Arjun Krishnan, Rachel L. Kember, Lucilla Pizzo, Charles Perrine, Patrick Callier
PurposeTo assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations.MethodsWe analyzed quantitative clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7fda6e715f1090b1e75d0d7cf2b7bf
Autor:
Patrick Callier, Angélique Quartier, Matthieu Jung, Brigitte Gilbert-Dussardier, Vincent des Portes, Claire Feger, Bernard Jost, Bénédicte Gérard, Stéphanie Le Gras, Daphné Lehalle, Elsa Nourisson, Anne-Sophie Casteleyn, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Laurence Faivre, Hélène Poquet, Frédéric Huet, Paul Kuentz, Christel Thauvin-Robinet, Véronique Geoffroy, Jean-Louis Mandel, Massimiliano Rossi, Gaetan Lesca, Alice Masurel, Patrick Edery, Benoit Trojak, Salima El Chehadeh, Stéphanie Maury, Jean Muller, Amélie Piton
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8096765ee7003b1568cbf3022e0ec345
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
Autor:
Anne-Laure Mosca-Boidron, Hanna D. Hove, Susanne Kjaergaard, Patrick Callier, Francine Mugneret, Maria Kirchhoff, Laurence Faivre, Nathalie Marle, Christel Thauvin-Robinet, Magali Avila, Alice Masurel, Mondher Chouchane
Publikováno v:
American journal of medical genetics. Part A. (7)
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display
Autor:
Anne-Laure Mosca-Boidron, Laurence Faivre, Veronica Cusin, Nadège Gigot, Salima El Chehadeh-Djebbar, Clémence Ragon, Frédéric Huet, Anne Moncla, Muriel Payet, Cornel Popovici, Anthonie J. van Essen, Bernard Aral, Christel Thauvin-Robinet, Alice Masurel-Paulet, Lucie Gueneau, Patrick Rump, Francine Mugneret, Patrick Callier, Nathalie Marle, Chantal Missirian, Jean-Raymond Teyssier, Irina Balikova, Anne-Marie Frances
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 48(11):1. BMJ PUBLISHING GROUP
We read with interest the article by Rivera-Brugues et al 1 in a recent issue of this journal describing 3 patients out of 1523 patients with unexplained mental retardation. Analysis by whole genome array-CGH (comparative genomic hybridisation) showe