Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Christel Thauvin-Robinet"'
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