Zobrazeno 51 - 60
of 132
pro vyhledávání: '"Jean-Baptiste Rivière"'
Autor:
David S. Rosenblatt, David Watkins, Jean-Baptiste Rivière, Lina Sobhi Abdrabo, Joël Lafond-Lapalme, Sophie R. Wang
Publikováno v:
Genetics in Medicine. 22:1280
Autor:
Paul R. Mark, Helena Ahlfors, Lisa Ewans, Ganka Douglas, Zornitza Stark, Lucinda Murray, Sebastian Lunke, Emily Fassi, Lauren Dreyer, Aimé Lumaka, Jullianne Diaz, Koenraad Devriendt, Lisa Worgan, Hanyin Cheng, Pankaj B. Agrawal, Laurence Faivre, H. T. Marc Timmers, Julie Vogt, Elizabeth E. Palmer, Kai Wang, Nora Alexander, Michael F. Buckley, Tony Roscioli, Chunhua Weng, Gabriela Soares, Simona Capponi, Antonie D. Kline, Jorge Oliveira, Amali Mallawaarachchi, Ana R. Gonçalves, Gareth Baynam, Eyby Leon, Marcia C. Willing, Shehla Mohammed, Sarah A. Sandaradura, Elaine Marchi, Katelyn Payne, Amber Begtrup, Piatek G. Stefan, Lesley C. Adès, Mengge Zhao, Emma Wakeling, Jean-Baptiste Rivière, Sébastien Moutton, Quan Li, Maria J. Guillen Sacoto, Jeff L. Waugh, Jennifer E. Posey, Robert Kleyner, Alan F. Rope, Prosper Lukusa, James R. Lupski, Laurence E. Walsh, Joris Vermeesch, Gholson J. Lyon, Sonja A. de Munnik
Publikováno v:
Human Mutation. 41:1075-1075
Autor:
Ludmila Francescatto, Catherine Guettier-Bouttier, Jean-Baptiste Rivière, Evelyne Marinier, Olivier Goulet, Philippe Gauchez, Alexandre Fabre, Yves Rimet, Jean-Pierre Hugot, Aurélie Bourchany, Laurence Faivre, Catherine Badens, Arnauld Delarue, Emmanuel Gonzales, Frédéric Huet, Raphaelle Maudinas, Arnaud Blanchard, Nicholas Katsanis, Céline Brochier-Armanet, Christel Thauvin-Robinet, Sabine Sigaudy, Julien Thevenon, Caroline Lacoste, Karin Mazodier, Ange-Line Bruel, Emmanuelle Ecochard-Dugelay, Nicolas Lévy, Cécile de Leusse, Mina Komuta, Géraldine Hery, Yannis Duffourd, Jacques Sarles, Bertrand Roquelaure, Xavier Stéphenne, Patrice Bourgeois, Perciliz L. Tan, Clothilde Esteve
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
American Journal of Human Genetics, 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.364-374. ⟨10.1016/j.ajhg.2018.01.009⟩
The American Journal of Human Genetics
The American Journal of Human Genetics, 2018, 102 (3), pp.364-374. 〈10.1016/j.ajhg.2018.01.009〉
American Journal of Human Genetics, Vol. 102, no. 3, p. 364-374 (2018)
International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with chole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63311494302c5d98ba5326b43b7b6501
https://amu.hal.science/hal-01721495
https://amu.hal.science/hal-01721495
Autor:
Anne Boland, Marjolaine Willems, Jean-Baptiste Rivière, Florence Apparailly, Elodie Sanchez, Frédéric Tran Mau Them, Julien Thevenon, David Geneviève, Marion Imbert-Bouteille, Thomas Guignard, Vincent Gatinois, Vincent Meyer, Jean-François Deleuze
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
European Journal of Medical Genetics, Elsevier, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients wi
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:
Axel Bohring, Jean-Baptiste Rivière, Joanna Kennedy, Giampaolo Garani, Margo Whiteford, Stefania Bigoni, Bregje W.M. van Bon, Elisa Ballardini, Laurence Faivre, Emmanuelle Ginglinger, Han G. Brunner, Matt Wherlock, Alexander Hoischen, Ruth Newbury-Ecob, Vincent Meyer, Robert Olaso, Geoff Woodward, Rocio Acuna-Hidalgo, Ange-Line Bruel, Judith St-Onge, Maggie Williams, Julien Thevenon, Christel Thauvin-Robinet, Giulia Parmeggiani, Jean-François Deleuze, Ddd Study, Chris C. Buxton, Alessandra Ferlini, Mark Greenslade, Anne Boland
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of ASXL1. However, several typical patients with BOS have no m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9616db17c74253ed460103a96e1c8340
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Autor:
C. Thauvin-Robinet, Hery G, Nicholas Katsanis, Aurélie Fabre, Ecochard-Dugelay E, De Leusse C, Y. Rimet, Ange-Line Bruel, Delarue A, P. Gauchez, Xavier Stéphenne, Patrice Bourgeois, R. Maudinas, Ludmila Francescatto, Céline Brochier-Armanet, Yannis Duffourd, Arnaud Blanchard, Marinier E, Laurence Faivre, Olivier Goulet, Perciliz L. Tan, Caroline Lacoste, J. Sarles, Jean-Pierre Hugot, Clothilde Esteve, K. Mazodier, Sabine Sigaudy, Emmanuel Gonzales, Aurélie Bourchany, Nicolas Lévy, C. Guettier-Bouttier, Catherine Badens, Frédéric Huet, Jean-Baptiste Rivière, Julien Thevenon, Bertrand Roquelaure, Mina Komuta
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with hitherto unknown syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a945bf6d094774e2e1455ab27bb53b0
Autor:
Katherine Dowsett, Mark H. Lipson, M. Glover, Jean-Baptiste Rivière, Rachel G. Knox, Loshan Kangesu, Veronica A. Kinsler, Zhiqiang Zeng, Aditi Murthy, Juling Ong, Neil W. Bulstrode, Amjad Khan, Alan Pittman, Susan M Huson, Darren Hargrave, W. Baird, Alex Virasami, Gregory James, Rahul Shah, Caroline Mahon, Anda Mosica, Celia Moss, Katrina A. Andrews, Robert Semple, Justine O'Hara, Kristiana Gordon, E Elizabeth Patton, Sahar Mansour, Maja Topf, Anna Thomas, Thomas S. Jacques, Kim M. Keppler-Noreuil, Hannah Kondolf, Julie C. Sapp, Marjorie J Lindhurst, Victoria E. R. Parker, Agnel P Joseph, Alex M. Barnacle, Satyamaanasa Polubothu, Paulina Stadnik, Regula Waelchli, Neil J. Sebire, Graeme Clark, L. Al-Olabi, Bran Sivakumar, Leslie G Biesecker
Publikováno v:
Parallel session abstracts.
Background Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited and multi-disciplinary m
Autor:
Brian J. O'Roak, Eric Fombonne, Raphael Bernier, Deidre R. Krupp, Yannis Duffourd, Sara A. Evans, Ryan M. Mulqueen, Jean Baptiste Rivière, Rebecca A. Barnard
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (3), pp.369-390. 〈10.1016/j.ajhg.2017.07.016〉
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (3), pp.369-390. ⟨10.1016/j.ajhg.2017.07.016⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (3), pp.369-390. 〈10.1016/j.ajhg.2017.07.016〉
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (3), pp.369-390. ⟨10.1016/j.ajhg.2017.07.016⟩
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. We systematically evaluated PMMs by le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ebcf4b770d78ffd5d6ac735b89203e3
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625497
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625497