Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Frédéric Huet"'
Autor:
Guillaume Jondeau, Nathalie Ruiz-Pallares, Jean-Damien Metaizeau, Christel Thauvin-Robinet, Frédéric Huet, Francine Mugneret, Fanny Coron, Bruno Leheup, Catherine Boileau, Edith Durand, Patrick Callier, Laurence Faivre, Philippe Khau Van Kien, Aurélie Plancke, Jean-Eric Wolf, Samuel Bidot, Delphine Minot, Corinne Baudoin, Véronique Dulieu, Mireille Claustres
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
European Journal of Medical Genetics, Elsevier, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical
Autor:
Pierre Vabres, Emilie Bouvignies, Gaëlle Bougeard, Mario Tosi, Stéphanie Baert-Desurmont, Julie Tinat, David Malka, Brigitte Bressac-de Paillerets, Frédéric Huet, Laurence Olivier-Faivre, Caroline Chapusot, Cosette Martin, G. Couillault, Stéphanie Vasseur, Thierry Frebourg, Florence Le Pessot
Publikováno v:
Familial Cancer
Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩
Familial Cancer, Springer Verlag (Germany), 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩
International audience; Constitutional mismatch repair-deficiency, due to biallelic mutations of MMR genes, results in a tumour spectrum characterized by leukaemias, lymphomas, brain tumours and adenocarcinomas of the gastro-intestinal tract, occurri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459320af0e16285cc79b6db05da0a690
https://hal.archives-ouvertes.fr/hal-03106912
https://hal.archives-ouvertes.fr/hal-03106912
Autor:
Christel, Thauvin-Robinet, Anne, Munck, Frédéric, Huet, Alix, de Becdelièvre, Clément, Jimenez, Guy, Lalau, Elodie, Gautier, Jacques, Rollet, Jean, Flori, Raphaëlle, Nové-Josserand, Jean-Claude, Soufir, Alain, Haloun, Dominique, Hubert, Elise, Houssin, Gil, Bellis, Gilles, Rault, Albert, David, Laurent, Janny, Raphaël, Chiron, Nathalie, Rives, Dominique, Hairion, Patrick, Collignon, Antoine, Valeri, Gilles, Karsenty, Annick, Rossi, Marie-Pierre, Audrézet, Claude, Férec, Julie, Leclerc, Marie des, Georges, Mireille, Claustres, Thierry, Bienvenu, Bénédicte, Gérard, Pierre, Boisseau, Faïza, Cabet-Bey, David, Cheillan, Delphine, Feldmann, Christine, Clavel, Eric, Bieth, Albert, Iron, Brigitte, Simon-Bouy, Vincent, Izard, Julie, Steffann, Stéphane, Viville, Catherine, Costa, Véronique, Drouineaud, Patricia, Fauque, Christine, Binquet, Claire, Bonithon-Kopp, Mike A, Morris, Laurence, Faivre, Michel, Goossens, Michel, Roussey, Emmanuelle, Girodon, L, Weiss
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74af8dc7426831fe5513473ce9708dcb
https://hal.umontpellier.fr/hal-02446166
https://hal.umontpellier.fr/hal-02446166
Autor:
Anne H. Child, Christophe Béroud, Catherine Boileau, Jaime Sanchez del Pozo, Julie De Backer, Cyril Goizet, Jeanne Amiel, Lesley C. Adès, Pierre Vabres, Anne De Paepe, Julien Thevenon, Laurence Duplomb, Katherine Holman, Christel Thauvin-Robinet, Clarisse Baumann, Frédéric Huet, Ghislaine Plessis, Gwenaëlle Collod-Béroud, Bert Callewaert, Eloisa Arbustini, Henri Plauchu, Bernard Aral, Peter N. Robinson, Sophie Julia, Jean Baptiste Rivière, Valérie Cormier-Daire, Gavin Arno, Nadège Gigot, Marjolijn Renard, Lucie Gueneau, Guillaume Jondeau, Patrick Callier, Jean Benoît Courcet, Maja Di Rocco, Laurence Faivre, Virginie Carmignac, Estelle Lopez, Maurizia Grasso
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950-957. 〈10.1016/j.ajhg.2012.10.002〉
American Journal of Human Genetics, 2012, 91 (5), pp.950-957. ⟨10.1016/j.ajhg.2012.10.002⟩
International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4240c41e9ce258a7c24b5f040116e571
https://hal.archives-ouvertes.fr/hal-01670135/document
https://hal.archives-ouvertes.fr/hal-01670135/document
Autor:
Frédéric Huet, Alice Goldenberg, Armand Bottani, Sandy Lambert, Estelle Lopez, Laurence Duplomb, Bérénice Doray, Valérie Cormier-Daire, Patrick Callier, Anne Moncla, Bernard Aral, Laurence Faivre, Lucie Gueneau, Christel Thauvin-Robinet, Sylvie Odent, Damien Sanlaville, Didier Lacombe
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. 〈10.1002/ajmg.a.34401〉
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. 〈10.1002/ajmg.a.34401〉
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0f4e32b140a83e1b246a2952a8cd8d
https://www.hal.inserm.fr/inserm-00662892
https://www.hal.inserm.fr/inserm-00662892