Zobrazeno 51 - 60
of 144
pro vyhledávání: '"Patrick Callier"'
Autor:
Judith St-Onge, Julien Thevenon, S. El Chehadeh-Djebbar, Mathilde Lefebvre, F. Huet, Patrick Callier, A. Steinmetz, Mondher Chouchane, Jean-Baptiste Rivière, François Feillet, Alice Masurel-Paulet, Véronique Darmency-Stamboul, Christel Thauvin-Robinet, Yannis Duffourd, Laurence Faivre
Publikováno v:
Clinical Genetics. 89:700-707
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations and low-yield laborato
Autor:
Jeanne Amiel, Sophie Julia, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Paul Kuentz, Salima El Chehadeh, Stanislas Lyonnet, Bruno Leheup, Elodie Gautier, Odile Boute-Benejean, Nathalie Le Meur, Sandrine Marlin, Irène François, Delphine Héron, Marianne Till, Patrick Edery, Houda Karmous Benailly, Serge Romana, Nicole Philip, Patrick Callier, Valérie Cormier-Daire, Bénédicte Héron, Adeline Vigouroux-Castera, Mathilde Lefebvre, Chantal Missirian, Sylvie Odent, Fanny Morice-Picard, Roseline Caumes, Dominique Martin, Cédric Le Caignec, Nicolas Chassaing, Claire Benneteau, Anne-Laure Mosca-Boidron, Claude Ferrec, Anne-Marie Guerrot, Sylvie Manouvrier-Hanu, Eva Piparas, Damien Sanlaville, Florence Petit, Stéphanie Arpin, Sébastien Moutton, Marie-Pierre Alex-Cordier, Elodie Cretin, Laurence Faivre, Sabine Sigaudy, Tiffany Busa, Brigitte Gilbert-Dussardier, Sandra Chantot-Bastaraud, Julien Thevenon, Alexandra Afenjar, Annick Toutain, Boris Keren, Anne Philippe, Valérie Malan, Laetitia Lambert, Sandra Mercier, Elise Schaefer, James Lespinasse, Nathalie Marle, Sylvia Redon, Fabienne Giuliano, Isabelle Mortemousque, Philippe Khau Van Kien, Pierre Bitoun, Alice Goldenberg, Sophie Blesson, Michèle Marti-Dramard
Publikováno v:
Clinical Genetics. 89:630-635
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being con
Autor:
François Vialard, Eva Pipiras, Pascale Kleinfinger, Dominique Martin-Coignard, Marie Catty, Elisabeth Flori, Emilie Landais, Mylène Valduga, Marie-France Portnoï, Aline Receveur, Agnès Choiset, Ghislaine Plessis, Nathalie Le Meur, Audrey Basinko, Justine Besseau-Ayasse, James Lespinasse, Radu Harbuz, Céline Poirsier, Martine Doco-Fenzy, Pascaline Letard, Caroline Schluth-Bolard, Anne Bazin, Jérôme Toutain, Fabienne Prieur, Florence Amblard, Cédric Le Caignec, Tiffany Busa, Marie Christine de Blois, Melanie Jimenez, Patrick Callier, Chantal Missirian, Céline Pebrel-Richard, Paul Kuentz, Catherine Yardin, François Cartault, Hakima Lallaoui
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multice
Autor:
Paul Kuentz, J.-B. Rivière, Patrick Callier, Yannis Duffourd, Laurence Faivre, Arthur Sorlin, Pierre Vabres, Emilie Tisserant, Christel Thauvin, Virginie Carmignac
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 146:A113
Introduction La determination de l’etiologie genetique des anomalies de la pigmentation cutanee en mosaique est un enjeu a double titre: d’une part, elle necessite des methodes adaptees a la detection de variations genetiques a faible taux et con
Autor:
Dominique Bonneau, Luis A Gonzalez-Nieto, Stine Leenskjold, Patrick Callier, Isabelle Thiffault, Katheryn Grand, Pauline Bogaard, Séverine Drunat, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine T. Wild, Elaine H. Zackai, Elena Repnikova, Damien Haye, Irene K Nielsen, Mirena C Astiazaran, Irfan Saadi, Daphné Lehalle, Ida Charlotte Bay Lund, Shivarajan M. Amudhavalli, Annick Toutain, Alain Verloes, Ana Sofia Carvalho, Dong Li, Carol J Saunders, Yoann Vial, Kadri Karaer
Publikováno v:
Eur J Med Genet
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
Bhoj, E J, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault, I, Saadi, I, Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Verloes, A 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Medical Genetics, vol. 62, no. 12, 103588 . https://doi.org/10.1016/j.ejmg.2018.11.022
Eur J Med Genet, 2019, 62 (12), pp.103588. ⟨10.1016/j.ejmg.2018.11.022⟩
International audience; The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls c
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:
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