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:
Robert Olaso, Adeline Prost, Anne-Sophie Denommé-Pichon, Magali Gorce, Anne Boland, Mélanie Fradin, Magalie Barth, Mathilde Nizon, Antonio Vitobello, Dominique Bonneau, Bertrand Isidor, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Céline Besse, Marie Vincent, Bertrand Fin, Yline Capri, Alban Ziegler, Ange-Line Bruel, Yannis Duffourd, Christophe Philippe, P. Callier, Sébastien Moutton, Aurore Garde, Médéric Jeanne, Annick Toutain, Sophie Nambot, Delphine Bacq-Daian, Charlotte Poë, Emilie Tisserant, Aurélien Juven, Julien Van-Gils, Tiffany Busa, Laurent Pasquier, Sabine Sigaudy, Arthur Sorlin, Thibaud Jouan, Philippine Garret, Corinne Chantegret, Julian Delanne, Cyril Flamant, Alinoë Lavillaureix, Clement Prouteau, Paul Rollier, Laurence Faivre, Jean-François Deleuze
Publikováno v:
Eur J Hum Genet
Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation and unknown prognosis, and the genetic causes are very heterogeneous. In a French hospital n
Autor:
Aurore Pélissier, Anne-Laure Mosca-Boidron, Thibaud Jouan, Elodie Cretin, Maxime Luu, Pierre Vabres, Jean-François Deleuze, Chritine Peyron, Nolwenn Jean-Marçais, Julien Thevenon, Christine Binquet, Frédéric Tran Mau-Them, Ange-Line Bruel, Patrick Callier, Elodie Gautier, Laurent Demougeot, Daphné Lehalle, Christophe Philippe, Paul Kuentz, Martin Chevarin, Sophie Nambot, Aline Chassagne, Charlotte Poe, Christel Thauvin-Robinet, Mathilde Lefebvre, Marc Bardou, Céline Verstuyft, Antonio Vitobello, Laurence Faivre, Julian Delanne, Emilie Tisserant, Arthur Sorlin, Yannis Duffourd
Publikováno v:
Eur J Hum Genet
With exome/genome sequencing (ES/GS) integrated into the practice of medicine, there is some potential for reporting incidental/secondary findings (IFs/SFs). The issue of IFs/SFs has been studied extensively over the last 4 years. In order to evaluat
Autor:
Laurence Duplomb, Jean-Noël Bastie, Edward Blair, Julie Riviere, Laurent Delva, Romain Da Costa, Arlette Hammann, Julien Thevenon, Bernard Aral, Jamal Ghoumid, Marie-Anne Gougerot-Pocidalo, Arnaud Lafon, Christel Thauvin-Robinet, Alain Schmitt, Patrick Edery, Virginie Carmignac, Julien Guy, Nathalie Droin, Eric Solary, Laurence Faivre, Gaëtan Jego, Laurence Dubrez, Jessica Racine, Salima El Chehadeh-Djebbar, François Girodon, Claude Capron
Publikováno v:
Journal of Molecular Medicine. 97:633-645
Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate
Autor:
Marie-Ange Delrue, Nathalie Golovkine, Annick Toutain, Marie-Jose Gregoire, Christel Thauvin-Robinet, Nicolas Gruchy, Cédric Le Caignec, Emilie Landais, Bruno Delobel, Olivier Tassy, Pascal Sabouraud, Laurence Taine, Caroline Fiquet, Nathalie Leporrier, Agathe Paubel, Dominique Gaillard, Philippe Jonveaux, Nathalie Bednarek, Jacques Motte, Bruno Leheup, Olivier Brichet, Albert David, Didier Lacombe, Martine Doco-Fenzy, Stéphanie Arpin, Mylène Beri, Sylvain Briault, Monique Mozelle-Nivoix, Camille Leroy, Francine Mugneret
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. 〈10.1038/ejhg.2012.230〉
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. 〈10.1038/ejhg.2012.230〉
European Journal of Human Genetics, Nature Publishing Group, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
European Journal of Human Genetics, 2012, 21 (6), pp.602-612. ⟨10.1038/ejhg.2012.230⟩
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based