Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
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:
Aziza Lebbar, Sandra Chantot-Bastaraud, Catherine Yardin, Ghislaine Plessis, Patrick Edery, Damien Sanlaville, Laurence Faivre, Aline Receveur, Anne Claude Tabet, Solveig Heide, Laila El Khattabi, Patrick Callier, Christine Francannet, Alice Goldenberg, Eva Pipiras, Michèle Mathieu-Dramard, Chantal Missirian, Odile Boute-Benejean, Cécile Laroche, C. Francois-Fiquet, Pascal Garnier, Alice Masurel-Paulet, Nathalie Marle, Marion Gérard, Jean Michel Dupont, Alexandra Afenjar, Martine Doco Fenzy, Anne Moncla, Marie Pierre Cordier, Brigitte Benzacken, Jean-Hubert Caberg, Gaetan Lesca, Loïc de Pontual, Christine Ioos, Massimiliano Rossi, Nathalie Le Meur, Andrée Delahaye-Duriez, Joris Andrieux, Caroline Vincent-Delorme, Siham Chafai Elalaoui, Lesley Suiro, Philippe Vago, Anne-Laure Mosca-Boidron, Abdelhafid Natiq
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
Journal of Medical Genetics, 2018, ⟨10.1136/jmedgenet-2018-105389⟩
BackgroundThe clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder (ASD). Previously reported patients were
Autor:
Anne-Sophie Denommé-Pichon, Laetitia Gouas, Martin Chevarin, Marlène Rio, Elodie Gautier, Sonia Bouquillon, Nolwenn Jean-Marçais, Jennifer Fabre-Teste, Dominique Martin, Elise Schaefer, Fabienne Giuliano, Didier Lacombe, Sophie Nambot, Gaëlle Vieville, Sophie Blesson, Paul Kuentz, Christine Francannet, Yannis Duffourd, Aurélien Juven, Alice Masurel, Patrick Callier, Arnold Munnich, Salima El Chehadeh, Sophie Rondeau, Christophe Philippe, Amélie Piton, Fanny Laffargue, Catherine Vincent Delorme, Marie Vincent, Olivier Pichon, Bénédicte Gérard, Anne-Laure Mosca-Boidron, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Perrin-Sabourin, Nathalie Marle, Cédric Le Caignec, Laurence Faivre, Hubert Journel, Klaus Dieterich
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
International audience; Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49416efdfdb6fb70d9dd48a27fb46e14
https://hal.archives-ouvertes.fr/hal-02883449
https://hal.archives-ouvertes.fr/hal-02883449
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:
Judith St-Onge, Anne-Laure Mosca-Boidron, Thibaud Jouan, Frédéric Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Sebastien Moutton, Aurélie Bourchany, Nolwenn Jean, Aurélia Jaquette, Christel Thauvin-Robinet, Daphné Lehalle, Elise Schaefer, Nada Houcinat, Charlotte Poe, Yannis Duffourd, Paul Kuentz, Salima El Chehadeh-Djebbar, Alice Masurel-Paulet, Martin Chevarin, Laurence Faivre, Sophie Nambot, Marjorie Willems, Mathilde Lefebvre, Nicole Laurent, Antonio Vitobello, Frédéric Huet, Julien Thevenon, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. 〈http://www.sciencedirect.com/science/article/pii/S1769721217301957?via%3Dihub〉. 〈10.1016/j.ejmg.2017.08.011〉
European Journal of Medical Genetics, Elsevier, 2017, 60 (11), pp.595-604. ⟨10.1016/j.ejmg.2017.08.011⟩
IF 2.137; International audience; BACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125f5ad428afc365a62dc4dbfa3b08ee
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01626052
Autor:
Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh
Publikováno v:
Journal of medical genetics. 55(6)
The Xq28 duplication involving the
Autor:
Julien Thevenon, Céline Souchay, Gail K Seabold, Inna Dygai-Cochet, Patrick Callier, Sébastien Gay, Lucie Corbin, Laurence Duplomb, Christel Thauvin-Robinet, Alice Masurel-Paulet, Salima El Chehadeh, Magali Avila, Delphine Minot, Eric Guedj, Sophie Chancenotte, Marlène Bonnet, Daphne Lehalle, Ya-Xian Wang, Paul Kuentz, Frédéric Huet, Anne-Laure Mosca-Boidron, Nathalie Marle, Ronald S Petralia, Laurence Faivre
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. ⟨10.1038/ejhg.2015.221⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.html〉. 〈10.1038/ejhg.2015.221〉
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. ⟨10.1038/ejhg.2015.221⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.html〉. 〈10.1038/ejhg.2015.221〉
International audience; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd98bf419f60baca56d35739b44d699
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814
Autor:
Laurence Faivre, Marie-Ange Delrue, Nathalie Marle, Fanny Morice-Picard, Pierre-Simon Jouk, Delphine Héron, Alice Goldenberg, Stéphanie Perez-Martin, Julien Thevenon, Frédéric Huet, Véronique Dulieu, Alice Masurel, Patricia Calenda, Patrick Callier, Salima El Chehadeh, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Pascale Saugier-Veber, Gipsy Billy-Lopez, Joris Andrieux, Paul Kuentz, Ghislaine Plessis, Christel Thauvin-Robinet, Géraldine Joly-Helas, Sophie Nambot, Mathilde Lefebvre, Charles Coutton, Anne-Laure Mosca-Boidron, Caroline Rooryck
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015202a.html〉. 〈10.1038/ejhg.2015.202〉
European Journal of Human Genetics, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015202a.html〉. 〈10.1038/ejhg.2015.202〉
European Journal of Human Genetics, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.830-837. ⟨10.1038/ejhg.2015.202⟩
International audience; The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0d986fc00fc32ceebf0cf57c345a809
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01400905
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01400905
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Autor:
Emilie Pallesi-Pocachard, Judith St-Onge, Hany Goubran Botros, Carlos Cardoso, C. Henry, Nadège Gigot, Julien Thevenon, Patrick Callier, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Richard Delorme, Christel Thauvin-Robinet, Clémence Ragon, Guillaume Dumas, Jean-Baptiste Rivière, Pascal Chambon, Alice Goldenberg, Muriel Payet, Jean-Michel Pinoit, Dominique Campion, Sophie Calderari, Thomas Bourgeron, Yannis Duffourd, Francine Mugneret, Pascale Saugier-Veber, Lucie Gueneau, Laurence Duplomb, Nathalie Lagarde, Laurence Faivre, Guillaume Huguet, Nathalie Marle, Antonio Falace, Antoine Rosier, Julien Buratti
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics 6 (24), 838-843. (2016)
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015211a.html〉. 〈10.1038/ejhg.2015.211〉
European Journal of Human Genetics, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. ⟨10.1038/ejhg.2015.211⟩
European Journal of Human Genetics 6 (24), 838-843. (2016)
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.838-43. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015211a.html〉. 〈10.1038/ejhg.2015.211〉
Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fe68523fb46bd60109a6523a540980
https://doi.org/10.1038/ejhg.2015.211
https://doi.org/10.1038/ejhg.2015.211
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