Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Paul Kuentz"'
Autor:
Shoji Ichikawa, Ilaria Rivolta, Anna Binda, Laurie S. Sadler, Sonia Figueiroa, Renzo Guerrini, Annick Laridon, Pasquale Striano, Katalin Sterbova, Bina Santoro, Petra Laššuthová, Maria Margherita Mancardi, Francesca Ragona, Anna Rosati, Fernando Kok, Laura Canafoglia, Daniele Frattini, Elena Freri, Christine Coubes, Davide Mei, Bobby P. C. Koeleman, Daniel Bauer, Carla Marini, Christel Depienne, Carlotta Spagnoli, Sophie Scheidecker, Carlo Fusco, Tiziana Granata, Barbara Castellotti, Eva H. Brilstra, Federico Melani, Cristina Garrido, Cinzia Gellera, A. Micheil Innes, Wilfrid Carré, Christèle Dubourg, Elena Parrini, Alessandro Porro, Caroline Nava, Maria Giardino, Sophie Julia, Manuela Santos, Yves Alembik, Eric LeGuern, Andrea Barbuti, Silvana Franceschetti, Federico Zara, Paul Kuentz, Raffaella Milanesi, Catherine Mercer, Carine Dalle, Julien Thevenon, Nicolas Deconinck, Agnès Rastetter, Laurent Pasquier, Kay Hamacher, Renske Oegema, Gerhard Thiel, Dario DiFrancesco, Tiziana Pisano, Chelsea Chambers, Jacopo C. DiFrancesco, Guillaume Smits, Katherine L. Helbig, Julie Soblet, Jana Neupauerová, Damien R Clark, Johannes R. Lemke, Radhika Dhamija, Anna Moroni
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants alte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a81d4853ace04d224a5bc24dae47347
https://hal.sorbonne-universite.fr/hal-01977974/document
https://hal.sorbonne-universite.fr/hal-01977974/document
Autor:
Dominique Martin-Coignard, Sébastien Küry, Benjamin Cogné, Lot Snijders Blok, Patrick R. Blackburn, Mathilde Nizon, Diana Rodriguez, Ching Moey, Bethany L. Johnson-Kerner, Noriko Miyake, Philippe M. Campeau, Delphine Héron, Elliott H. Sherr, Nataliya Di Donato, Iryna Lobach, Dusica Babovic-Vuksanovic, Caroline Nava, Alexandra Afenjar, A. Micheil Innes, Ruiji Jiang, Naomichi Matsumoto, Stéphane Bézieau, Amy S. Kimball, Marie Vincent, Jens Bunt, Kimberly A. Aldinger, Christel Thauvin-Robinet, Julien Thevenon, Stephen N. Floor, Brian H.Y. Chung, Alban Ziegler, Maria Daniela D'Agostino, Ghayda M. Mirzaa, Paul Kuentz, Laurence Faivre, Cyril Mignot, William B. Dobyns, Boris Keren, Brieana Fregeau, Lindsey Suit, Lydie Burglen, Mariah L. Hoye, Atsushi Fujita, Debra L. Silver, Charles J. Sheehan, A. James Barkovich, Fernando C. Alsina, Srivats Venkataramanan, Bertrand Isidor, Perrine Charles, Eric W. Klee, Linda J. Richards, Ashley L. Lennox, Cynthia J. Curry
Publikováno v:
Neuron. 106(3)
Summary De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained intellectual disability (ID) cases in females and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mech
Autor:
Asma Chebil, Duksha Ramful, Thibaud Jouan, Hanitra Randrianaivo, Norbert F. Ajeawung, Nicolas Gruchy, Yannis Duffourd, Bérénice Doray, Christopher T. Gordon, Francesca Filippini, Christine Bole-Feysot, Philippe M. Campeau, Asma Omarjee, Julien Thevenon, Paul Kuentz, Jean-Luc Alessandri, Patrick Nitschke, Laurence Faivre, Jeanne Amiel, Coralie Dumont, Thi Tuyet Mai Nguyen, Marion Gérard, Myriam Oufadem, Guillaume Benoist, Olivier Alibeu, Marie-Line Jacquemont
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. ⟨10.1038/s41431-017-0087-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (3), pp.340-349. 〈https://www.nature.com/articles/s41431-017-0087-x〉. 〈10.1038/s41431-017-0087-x〉
International audience; Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d931cc42fd61c0cd79cc735187fb5658
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01708808
Autor:
Judith St-Onge, Yannis Duffourd, Sandra Whalen, Marjolaine Willems, Anne-Claire Bursztejn, Massimiliano Rossi, Bertrand Isidor, Patrick Edery, Odile Boute, Virginie Carmignac, J. Miquel, Sébastien Barbarot, Daniel Amram, Fanny Morice-Picard, A. Phan, Pierre Vabres, Didier Lacombe, Maryse Bonnière, Jean-Baptiste Rivière, Nadia Bahi-Buisson, Catherine Vincent-Delorme, Thibaud Jouan, Paul Kuentz, Caroline Michot, Renaud Touraine, Jean-Benoît Courcet, Christine Francannet, Marie Vincent, Smail Hadj-Rabia, Valérie Cormier-Daire, Christine Coubes, Cyril Mignot, Nathalie Marle, Jeanne Amiel, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Juliette Mazereeuw-Hautier, Annabel Maruani, Salima El Chehadeh, Geneviève Baujat, Christine Chiaverini, Daphné Lehalle, Arthur Sorlin, Florence Petit, Bruno Delobel, Laurence Faivre, Julien Thevenon, Stéphanie Arpin, Didier Bessis, Damien Haye, David Geneviève, Tania Attié-Bitach, Claire Abasq-Thomas, Jelena Martinovic, Alain Verloes, Christel Thauvin-Robinet, Juliette Albuisson, Marie-Line Jacquemont, Alice Goldenberg, Olivia Boccara, Ludovic Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed u
Autor:
Paul Kuentz, Magali Avila, Jean Baptiste Rivière, Pierre Vabres, Marietta Zinner, Julien Thevenon, Judith St-Onge, David Geneviève, Eveline S. J. M. de Bont, Florian Villegas, Floor A. M. Duijkers, Mieke M. van Haelst, Laurence Duplomb-Jego, Sébastien A. Smallwood, Silvana van Koningsbruggen, Daniel Olivieri, Nada Houcinat, Yannis Duffourd, Thibaud Jouan, Christel Thauvin-Robinet, Koen L.I. van Gassen, Daphné Lehalle, Melanie Rittirsch, Michael B. Stadler, Laurence Faivre, Daniel Hess, Klaske D. Lichtenbelt, Joerg Betschinger, Daniela Mayer
Publikováno v:
Cell Stem Cell
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
Cell Stem Cell, Cambridge, MA : Cell Press, 2019, 24 (2), pp.257-270.e8. ⟨10.1016/j.stem.2018.11.021⟩
Cell Stem Cell, 24(2), 257. Cell Press
Villegas, F, Lehalle, D, Mayer, D, Rittirsch, M, Stadler, M B, Zinner, M, Olivieri, D, Vabres, P, Duplomb-Jego, L, de Bont, E S J M, Duffourd, Y, Duijkers, F, Avila, M, Geneviève, D, Houcinat, N, Jouan, T, Kuentz, P, Lichtenbelt, K D, Thauvin-Robinet, C, St-Onge, J, Thevenon, J, van Gassen, K L I, van Haelst, M, van Koningsbruggen, S, Hess, D, Smallwood, S A, Rivière, J-B, Faivre, L & Betschinger, J 2019, ' Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 ', Cell Stem Cell, vol. 24, no. 2, pp. 257-270.e8 . https://doi.org/10.1016/j.stem.2018.11.021
Cell stem cell, 24(2), 257-270.e8. CELL PRESS
Cell Stem Cell, 24(2), 257-270.e8. Cell Press
Cell stem cell, 24(2), 257-270.e8. Cell Press
International audience; Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased
Autor:
Delphine Minot, Sophie Chancenotte, Paul Kuentz, Yvan Henrenger, Mélanie Archimbaud-Devilliers, Christel Thauvin-Robinet, Audrey Creppy, Aurore Curie, Ezzat Ghosn, Alice Masurel-Paulet, Marie Ruffier-Bourdet, Daphné Lehalle, Julien Thevenon, Nicole Philip, Marlène Bonnet, Frédéric Huet, Claire Redin, Laurence Faivre, Jean-Louis Mandel, Amélie Piton, Gaëlle Blanchard, Odile Perret
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (8), pp.2103-2110. 〈10.1002/ajmg.a.37765〉
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103-2110. ⟨10.1002/ajmg.a.37765⟩
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d693fe8769b15989697fc7ea973436
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01680171
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