Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Anne-Laure Mosca-Boidron"'
Autor:
Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl
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:
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:
Sophie Scheidecker, Françoise Devillard, Gaetan Lesca, Maryline Carneiro, Christèle Dubourg, Ganaëlle Remerand, Catherine Badens, Odile Boespflug-Tanguy, Nathalie Marle, Serge Romana, Nadia Bahi-Buisson, Jean-Paul Bonnefont, Hubert Journel, Bénédicte Duban-Bedu, Brigitte Gilbert-Dussardier, Mathilde Nizon, Nathalie Perreton, Sophie Julia, Cyril Goizet, Delphine Héron, Véronique Satre, Marguerite Miguet, Joris Andrieux, Pierre-Simon Jouk, Laurence Perrin, Renaud Touraine, Ghislaine Plessis, Dominique Martin-Coignard, Caroline Rooryck, Catherine Vincent-Delorme, Laurence Faivre, Salima El Chehadeh, Thierry Bienvenu, Jean-Luc Alessandri, Anne-Claude Tabet, Laurent Pasquier, Martine Raynaud, Réseau AChro-Puce, Marjolaine Willems, Bruno Leheup, Marianne Till, Jeanne Amiel, Jacqueline Vigneron, Nicole Philip, Valérie Kremer, Massimiliano Rossi, Boris Keren, Annick Toutain, Fabienne Prieur, Bertrand Isidor, Séverine Drunat, Marilyn Lackmy-Port-Lis, Albert David, Christel Thauvin-Robinet, Damien Sanlaville, Laetitia Lambert, Lydie Burglen, Klaus Dieterich, Catherine Sarret, Anne Moncla, Didier Lacombe, Fanny Laffargue, Kim Maincent, Marlène Rio, Clarisse Baumann, Mathilde Lefebvre, Sabine Sigaudy, Laurent Guibaud, Adeline Vigouroux, Valérie Malan, Patrick Callier, Chantal Missirian, Christophe Philippe, Christine Francannet, Anne-Laure Mosca-Boidron, Valérie Cormier-Daire, Cédric Le Caignec, Vincent des Portes, Charles Coutton, Alexandra Afenjar, Sandrine Chantot-Bastaraud, Julien Thevenon, Mylène Béri-Dexheimer, Hilde Van Esch, Bernard Echenne, Jean-Marie Cuisset, Jean-Michel Pedespan
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
The Xq28 duplication involving theMECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bb3809b5e7ee7287c9062f8ef529f3
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
Autor:
Judith St-Onge, Antonio Vitobello, Pierre Vabres, Nolwenn Jean-Marçais, Daphné Lehalle, Charlotte Poe, Virginie Carmignac, Ange-Line Bruel, Paul Kuentz, Patrick Callier, Jean-Baptiste Rivière, Christophe Philippe, Laurence Faivre, Emilie Tisserant, Salima El Chehadeh-Djebbar, Frédéric Tran Mau-Them, Julien Thevenon, Yannis Duffourd, Christel Thauvin-Robinet, Alice Masurel-Paulet, Anne-Laure Mosca-Boidron, Thibaud Jouan, Martin Chevarin, Sophie Nambot, Mathilde Lefebvre
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017162〉. 〈10.1038/gim.2017.162〉
Genetics in Medicine, Nature Publishing Group, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
Genetics in Medicine, Nature Publishing Group, 2017, 〈https://www.nature.com/articles/gim2017162〉. 〈10.1038/gim.2017.162〉
Genetics in Medicine, Nature Publishing Group, 2018, 20 (6), pp.645-654. ⟨10.1038/gim.2017.162⟩
International audience; PurposeCongenital anomalies and intellectual disability (CA/ID) are a major diagnostic challenge in medical genetics—50% of patients still have no molecular diagnosis after a long and stressful diagnostic “odyssey.” Solo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d5b63d78cd91fdcdc1b50f4c12a602a
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01635326
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01635326
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:
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:
Helene Poquet, Laurence Faivre, Salima El Chehadeh, Jenny Morton, Dominic McMullan, Susan Hamilton, Himanshu Goel, Bertrand Isidor, Cedric Le Caignec, Joris Andrieux, Bruno Delobel, Eva Pipiras, Anne Claude Tabet, Andree Delahaye, Loic Depontual, Mathilde Lefebvre, Caroline Jacquot, Alice Masurel, Frederic Huet, Jean Michel Pinoit, Vincent Meille, Maud Benetti, Eddy Ponavoy, Jean Christophe Chauvet Gelinier, Benoit Trojak, Bernard Bonin, Christine Juif, Anne Collinet de la Salle, Christel Thauvin Robinet, Nathalie Lagarde, Celine Henry, Nathalie Marle, Patrick Callier, Anne Laure Mosca Boidron
Publikováno v:
Autism-Open Access.
Autism spectrum disorders are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. The core symptoms typically coexist with other medical conditions such as intellectual disability. The involvem
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