Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Jacques Weil"'
Autor:
Alfred Penfornis, Marie-Christine Vantyghem, C. Docao, Maryse Cartigny, Emmanuelle Proust-Lemoine, Jean-Claude Carel, Laura Vanhove, Jean-Louis Wémeau, Pascale Saugier Veber, Jacques Weil, Olivier Chabre, Véronique Kerlan, Nicole Fabien, Catherine Bauters, Isabelle Top, Brigitte Delemer, Linda Humbert, Helen Kemp, Boualem Sendid, Perre-Francois Souchon, Laurence Guignat, Herve Lefevbre, Sylvain Dubucquoi
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4f764985ca18d907a4f3f5d5526905c
https://doi.org/10.1530/endoabs.63.oc7.5
https://doi.org/10.1530/endoabs.63.oc7.5
Autor:
Jacques Weil, Patricia Bartaire, Véronique Houfflin-Debarge, Sylvie Manouvrier-Hanu, Rémi Besson, Maryse Cartigny
Publikováno v:
Journal of Pediatric Urology. 6:S85
Purpose Improvements in ultrasound technology and practice of fetal karyotype lead to diagnose different types of Disorder of Sexual Development (DSD) during the prenatal period: abnormalities of fetal genitalia, sex chromosome mosaicism with Y mater
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade8d4974eba3f14cf6c48127ff5cc6e
https://doi.org/10.1016/j.jpurol.2010.02.163
https://doi.org/10.1016/j.jpurol.2010.02.163
Autor:
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
Publikováno v:
Molecular Metabolism, Vol 13, Iss , Pp 1-9 (2018)
Objective: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exo
Externí odkaz:
https://doaj.org/article/31587e1c7e5942a9a6d20496894a49c3
Autor:
F. Balazard, S. Le Fur, S. Valtat, A. J. Valleron, P. Bougnères, Isis-Diab collaborative group, Dominique Thevenieau, Corinne Fourmy Chatel, Rachel Desailloud, Hélène Bony-Trifunovic, Pierre-Henri Ducluzeau, Régis Coutant, Sophie Caudrelier, Armelle Pambou, Emmanuelle Dubosclard, Florence Joubert, Philippe Jan, Estelle Marcoux, Anne-Marie Bertrand, Brigitte Mignot, Alfred Penformis, Chantal Stuckens, Régis Piquemal, Pascal Barat, Vincent Rigalleau, Chantal Stheneur, Sylviane Fournier, Véronique Kerlan, Chantal Metz, Anne Fargeot-Espaliat, Yves Reznic, Frédérique Olivier, Iva Gueorguieva, Arnaud Monier, Catherine Radet, Vincent Gajdos, Daniel Terral, Christine Vervel, Djamel Bendifallah, Candace Ben Signor, Daniel Dervaux, Abdelkader Benmahammed, Guy-André Loeuille, Françoise Popelard, Agnès Guillou, Pierre-Yves Benhamou, Jamil Khoury, Jean-Pierre Brossier, Joachim Bassil, Sylvaine Clavel, Bernard Le Luyer, Pierre Bougnères, Françoise Labay, Isabelle Guemas, Jacques Weill, Jean-Pierre Cappoen, Sylvie Nadalon, Anne Lienhardt-Roussie, Anne Paoli, Claudie Kerouedan, Edwige Yollin, Marc Nicolino, Gilbert Simonin, Jacques Cohen, Catherine Atlan, Agnès Tamboura, Hervé Dubourg, Marie-Laure Pignol, Philippe Talon, Stéphanie Jellimann, Lucy Chaillous, Sabine Baron, Marie-Noëlle Bortoluzzi, Elisabeth Baechler, Randa Salet, Ariane Zelinsky-Gurung, Fabienne Dallavale, Etienne Larger, Marie Laloi-Michelin, Jean-François Gautier, Bénédicte Guérin, Laure Oilleau, Laetitia Pantalone, Céline Lukas, Isabelle Guilhem, Marc De Kerdanet, Marie-Claire Wielickzo, Mélanie Priou-Guesdon, Odile Richard, François Kurtz, Norbert Laisney, Déborah Ancelle, Guilhem Parlier, Catherine Boniface, Dominique Paris Bockel, Denis Dufillot, Berthe Razafimahefa, Pierre Gourdy, Pierre Lecomte, Myriam Pepin-Donat, Marie-Emmanuelle Combes-Moukhovsky, Brigitte Zymmermann, Marina Raoulx, Anne Gourdin et Catherine Dumont
Publikováno v:
BMC Public Health, Vol 16, Iss 1, Pp 1-10 (2016)
Abstract Background The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental mar
Externí odkaz:
https://doaj.org/article/79bbfdce5e9440ecaf010dfed514cf60
Autor:
Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32505 (2012)
More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-lik
Externí odkaz:
https://doaj.org/article/b6739948cbb944c5b011f68027fa6ca8
Autor:
André Scherag, Christian Dina, Anke Hinney, Vincent Vatin, Susann Scherag, Carla I G Vogel, Timo D Müller, Harald Grallert, H-Erich Wichmann, Beverley Balkau, Barbara Heude, Marjo-Riitta Jarvelin, Anna-Liisa Hartikainen, Claire Levy-Marchal, Jacques Weill, Jérôme Delplanque, Antje Körner, Wieland Kiess, Peter Kovacs, Nigel W Rayner, Inga Prokopenko, Mark I McCarthy, Helmut Schäfer, Ivonne Jarick, Heiner Boeing, Eva Fisher, Thomas Reinehr, Joachim Heinrich, Peter Rzehak, Dietrich Berdel, Michael Borte, Heike Biebermann, Heiko Krude, Dieter Rosskopf, Christian Rimmbach, Winfried Rief, Tobias Fromme, Martin Klingenspor, Annette Schürmann, Nadja Schulz, Markus M Nöthen, Thomas W Mühleisen, Raimund Erbel, Karl-Heinz Jöckel, Susanne Moebus, Tanja Boes, Thomas Illig, Philippe Froguel, Johannes Hebebrand, David Meyre
Publikováno v:
PLoS Genetics, Vol 6, Iss 4, p e1000916 (2010)
Meta-analyses of population-based genome-wide association studies (GWAS) in adults have recently led to the detection of new genetic loci for obesity. Here we aimed to discover additional obesity loci in extremely obese children and adolescents. We a
Externí odkaz:
https://doaj.org/article/03ae334df6704a48ab2b24253c722f85