Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Patrick Callier"'
Autor:
Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot
Publikováno v:
Journal of the Neurological Sciences
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3329cef9705665a2779172bf299f6c60
https://hal.inrae.fr/hal-03463169
https://hal.inrae.fr/hal-03463169
Autor:
Patrick Callier, Georges Tarris, Alexis de Rougemont, Frédéric Huet, Laurent Martin, Gaël Belliot
Publikováno v:
Pediatric Infectious Disease Journal
Pediatric Infectious Disease Journal, Lippincott, Williams & Wilkins, 2019, 38 (12), pp.e326-e328. ⟨10.1097/INF.0000000000002472⟩
Pediatric Infectious Disease Journal, Lippincott, Williams & Wilkins, 2019, 38 (12), pp.e326-e328. ⟨10.1097/INF.0000000000002472⟩
International audience; Autopsy investigation of a fatal case of rotavirus severe acute gastroenteritis and multiple organ failure in a 16-month boy with previous intrauterine growth retardation showed colocalization of nonstructural and structural r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4302d1b18f99fba9e033e513cfdfa7c
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02380000
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02380000
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:
Stéphane Triau, Christel Thauvin-Robinet, Julien Thevenon, Guillaume Captier, David Geneviève, Audrey Putoux, Yannis Duffourd, Delphine Héron, Patrick Callier, Mirna Assoum, Laurence Faivre, Daphné Lehalle, Patrick Edery, Alice Goldenberg, Sarah Grotto, Bettina Bessières, Catherine Vincent-Delorme, Ange-Line Bruel, Hülya Kayserili, Christelle Cabrol, Nursel Elcioglu, Geneviève Baujat, Myriam Vezain, Alice Masurel, Massimiliano Rossi, Umut Altunoglu, Pierre Vabres, Pascale Saugier-Veber, Sandrine Marlin
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
IF 2.264; International audience; The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed85d9dcbee7c7e221189cbeb14ae4d7
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02005698
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02005698
Autor:
Thierry Frebourg, Sophie Patrier, Jean-Christophe Sabourin, Aude Tessier, Nathalie LeMeur, Patrick Callier
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 22(2)
We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery malposition, bilateral radial ray deficiency, a single pelvic kidney, and growth retardation
Autor:
Annick Lefebvre, Patrick Callier, Mathilde Frérot, K. Astruc, Simon Aho, Ludwig Serge Aho Glélé
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 12, p e0208442 (2018)
PLoS ONE, Vol 13, Iss 12, p e0208442 (2018)
ContextEpidemiology is a discipline which has evolved with the changes taking place in society and the emergence of new diseases and new discipline related to epidemiology. With these evolutions, it is important to understand epidemiology and to anal
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:
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:
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