Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Christel Thauvin-Robinet"'
Autor:
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Publikováno v:
European Journal of Human Genetics. 30:967-975
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES inter
Autor:
Marie Gonzales, Alice Goldenberg, Jean-Luc Alessandri, Charles Decaestecker, Alain Verloes, Daphné Lehalle, Marie-Line Jacquemont, Marlène Rio, Muriel Holder-Espinasse, Christopher T. Gordon, Alexandre Vasiljevic, Michel Vekemans, Loïc de Pontual, Sandrine Marlin, Laurent Pasquier, Didier Lacombe, Robert Smigiel, Lucile Boutaud, Sylvie Manouvrier-Hanu, Valérie Malan, Arnold Munnich, Jeanne Amiel, Stanislas Lyonnet, Christel Thauvin-Robinet, Roseline Caumes, Geneviève Baujat, Odile Boute-Benejean, Florence Petit, Myriam Oufadem, Gilles Morin, Neus Baena, Clarisse Baumann, Dominique Gaillard, Tania Attié-Bitach, Géraldine Goudefroye, Michèle Mathieu-Dramard
Publikováno v:
Human Mutation. 35:478-485
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing lo
Autor:
Thierry Rousseau, Anne-Lise Delezoide, Martine Le Merrer, Stephen P. Robertson, Stéphanie Couvreur, Paul Sagot, Marina Colombani, Frédéric Huet, Nicole Laurent, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Prenatal Diagnosis. 26:1151-1155
Background We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. Methods and Results Cytogenetic studies performed
Autor:
Patrick Callier, Veronica Cusin, Josephine Borgnon, Emmanuel Gounot, Emmanuel Sapin, Laurence Faivre, Frédéric Huet, Philippe Khau Van Kien, Christel Thauvin-Robinet, Francine Mugneret, Keith L. Parker, Marc Fellous
Publikováno v:
American Journal of Medical Genetics. :303-307
Cloacal exstrophy is a rare malformation, belonging to a spectrum of birth defects, which, in order of severity, includes phallic separation with epispadias, pubic diastasis, bladder exstrophy, and cloacal exstrophy. This malformation overlaps the OE
Autor:
Paul Sagot, Christine Durand, Laurence Faivre, Christel Thauvin-Robinet, Nicole Laurent, Stéphanie Lionnais, Thierry Rousseau
Publikováno v:
Prenatal Diagnosis. 22:692-696
Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) i