Zobrazeno 11 - 13
of 13
pro vyhledávání: '"Yannis Duffourd"'
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:
Elodie Gautier, David Geneviève, V. Goussot, A.S. Lapointe, Aurore Pélissier, Marc Bardou, C. Sawka, C. Thauvin-Robinet, Laurence Faivre, François Ghiringhelli, Elodie Cretin, F. Tran Mau-Them, Damien Sanlaville, G. Bertolone, R. Boidot, Catherine Lejeune, Christine Binquet, Julian Delanne, Antonio Vitobello, Ange-Line Bruel, A. Baurand, Yannis Duffourd, Maxime Luu, Christine Peyron, Christine Juif, Aline Chassagne, Laurent Demougeot, Christophe Philippe, Sophie Nambot, Olivier Putois, Françoise Houdayer, Julien Thevenon, L. Joly, P. Pujol, C. Vernin
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, Elsevier, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.010⟩
IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their fami
Autor:
Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F., Kölbel, Heike, Roos, Andreas, Horvath, Rita, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Paramonov, Ida, Peters, Sophia, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, Van Der Velde, Joeri K., Vitobello, Antonio, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-De Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D. S., Polavarapu, Kiran, Cruz, Pedro M. Rodriguez, Sarkozy, Anna, Selvatici, Rita, Thompson, Rachel, Torella, Annalaura, Udd, Bjarne, Van De Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
European Journal of Human Genetics, Nature Publishing Group, 2021, 29 (9), pp.1348-1353. ⟨10.1038/s41431-021-00851-8⟩
European Journal of Human Genetics, 29, 9, pp. 1348-1353
European Journal of Human Genetics, 29, 1348-1353
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal musc
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