Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Gwenaelle André"'
Autor:
Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André, Jacques François Silou-Massamba
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospita
Externí odkaz:
https://doaj.org/article/a6ffe07a62f741a8b54059e44bc40414
Publikováno v:
Alternative Francophone, Vol 2, Iss 2, Pp 9-28 (2018)
Cet article se base sur les résultats d’une enquête quantitative et qualitative, menée en 2016 dans quatre provinces de l’Ouest canadien ainsi que dans les Territoires du Nord-Ouest, le Yukon et le Nunavut, visant à déterminer les défis et
Externí odkaz:
https://doaj.org/article/b0b5f07823ff402991c3a80938590bb2
Autor:
Eva Kohaut, Flavie Ader, Caroline Rooryck, Fanny Pelluard, Maryse Bonnière, Gwenaelle André, Fanny Sauvestre, Philippe Roth, Diala Khraiche, Bettina Bessières, Tania Attié‐Bitach, Pascale Richard
Publikováno v:
Clinical Genetics.
Publikováno v:
Digital Culture & Education, Vol 14, Iss 5, Pp 64-82 (2023)
In this article we investigate how automation structures consent for people, and the pedagogies that might expand or reframe consent, both in research contexts and on digital platforms. We do so as researchers involved with adults who attend a bi-wee
Externí odkaz:
https://doaj.org/article/61048f2ef1a044d5af8e820cfc39cb67
Autor:
Martin A. Weber, Louise Devisme, Przemyslaw Szafranski, Fernando Scaglia, Megan K. Dishop, Eric Bieth, Claire Beneteau, Bruce Bennetts, Chantal Missirian, David Mowat, Sébastien Küry, Mark H. Lipson, Jennifer N. Dines, Justyna A. Karolak, James R. Lupski, Iben Bache, Amanda S. Freed, Véronique Secq, Bertrand Isidor, Gwenaelle André, Linda Pons, Anne Chun Hui Tsai, Qian Liu, Maria Orsaria, Claudia Gonzaga-Jauregui, Francesco Vetrini, Wendy K. Chung, Nicolas Joram, Jelena Martinovic, Marie Vincent, Cornelius F. Boerkoel, Arie van Haeringen, Tina M. Bartell, Gail H. Deutsch, Olivier Pichon, John A. Phillips, Marie Denis-Musquer, Zeynep Tümer, Tomasz Gambin, Nicolas Chassaing, Thomas Besnard, Edwina J. Popek, Arnaud Molin, Andrew J. Gifford, Zeynep Coban Akdemir, Benjamin Cogné, Kathleen A. Leppig, Galen M. Schauer, Catherine Mercer, Catherine Ward-Melver, Chester W. Brown, Jean Michel Liet, Dominique Carles, Madeleine Joubert, Lara Chalabreysse, Cédric Le Caignec, Damien Sanlaville, Tiphaine Bihouée, Heather C Mefford, Jean P. Pfotenhauer, Pawel Stankiewicz, Massimiliano Don, Anna F. Lee, Jérémie Mortreux, Katrina M. Dipple, Florence Petit, Katie Golden-Grant, Stéphane Bézieau, Shalini N. Jhangiani, Dorothy K. Grange, Laurent Pasquier, Daryl A. Scott
Publikováno v:
American Journal of Human Genetics, 104(2), 213-228. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
International audience; Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1e4f18fb660d5924e3d01e7a03436d
https://hdl.handle.net/1887/122774
https://hdl.handle.net/1887/122774
Autor:
Patricia Fergelot, Perrine Pennamen, Angèle Tingaud-Sequeira, Caroline Rooryck, Aurélien Trimouille, Cécile Boucher, Didier Lacombe, Julie Bouron, Gwenaelle André, Benoit Arveiler
The organization of mammalian genomes into sub-megabase sized Topologically Associated Domains (TADs) has recently been revealed by techniques derived from Chromosome Conformation Capture (3 C), such as High Chromosome Contact map (Hi-C). Disruption
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac1bd8f07fd55c74ac655f28985aaca
https://europepmc.org/articles/PMC6460562/
https://europepmc.org/articles/PMC6460562/
Autor:
Djamila Onésime, Léa Vidal, Stéphane Thomas, Céline Henry, Véronique Martin, Gwenaëlle André, Piotr Kubiak, Philippe Minard, Ewelina Celinska, Jean-Marc Nicaud
Publikováno v:
Microbial Cell Factories, Vol 21, Iss 1, Pp 1-21 (2022)
Abstract Background Yarrowia lipolytica, a nonconventional oleaginous yeast species, has attracted attention due to its high lipid degradation and accumulation capacities. Y. lipolytica is used as a chassis for the production of usual and unusual lip
Externí odkaz:
https://doaj.org/article/3235f629ac0740eeb8380366fcaa83ff
Autor:
Aude, Tessier, Mélie, Sarreau, Fanny, Pelluard, Gwenaelle, André, Sophie, Blesson, Martine, Bucourt, Pierre, Dechelotte, Laurence, Faivre, Thierry, Frébourg, Alice, Goldenberg, Valérie, Goua, Corinne, Jeanne-Pasquier, Fabien, Guimiot, Annie, Laquerriere, Nicole, Laurent, Mathilde, Lefebvre, Philippe, Loget, Martine, Maréchaud, Charlotte, Mechler, Marie-Josée, Perez, Jean Christophe, Sabourin, Alain, Verloes, Sophie, Patrier, Anne-Marie, Guerrot
Publikováno v:
Prenatal diagnosis. 36(13)
Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported.We analyzed the prenatal and postnatal feta
Autor:
Aurélien Trimouille, Julie Bouron, Perrine Pennamen, Didier Lacombe, Benoit Arveiler, Gwenaelle André, Caroline Rooryck-Thambo, Patricia Fergelot, Angèle Tingaud-Sequeira
Publikováno v:
Morphologie. 102:141
Introduction/Objectifs L’etude de l’architecture tridimensionnelle de la chromatine par la technologie de Hi-C, derivee de la Chromosome Conformation Capture (3C), a mis en lumiere l’existence de domaines chromatiniens denommes topologically as
Autor:
Florence Demurger, Amanda Krause, Tania Attié-Bitach, Muriel Holder, Clarisse Baumann, Mélanie Fradin, Alain Liquier, Joelle Roume, Laurent Pasquier, Fabienne Giuliano, Valérie Cormier-Daire, Daniel Amram, Martine Le Merrer, Odile Boute, Chloé Quélin, Férechté Encha-Razavi, Serge Romana, Marie-Liesse Chauvet, Soumaya Mougou-Zerelli, Lionel Van Maldergem, Bertrand Isidor, Sylvie Odent, Fanny Laffargue, Massimiliano Rossi, Sylvie Manouvrier, Marie-Ange Delrue, Sheela Nampoothiri, André Mégarbané, Marie Gonzales, Alexandra Afenjar, Louise Devisme, Gwenaelle André, Martine Sinico, Anne Dieux-Coeslier, Nicole Philip, Sandra Mercier, Odile Raoul, Géraldine Viot, Marie-Line Jacquemont, Elise Schaefer, Laurence Faivre, Géraldine Goudefroye, Didier Lacombe, Amale Ichkou, Michel Vekemans, Marylin Lackmy-Port-Lis, Arnold Munnich, Jeanne Amiel, Anne-Lise Delezoide, Catherine Vincent-Delorme, Geneviève Baujat, David Geneviève
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2014, 23 (1), pp.92-102. 〈10.1038/ejhg.2014.62〉
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European Journal of Human Genetics, Nature Publishing Group, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
European journal of human genetics: EJHG
European journal of human genetics: EJHG, 2014, 23 (1), pp.92-102. 〈10.1038/ejhg.2014.62〉
International audience; The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede632adbe94da78b1c73d152495d03a
https://hal.science/hal-01064583
https://hal.science/hal-01064583