Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Christel Thauvin-Robinet"'
Autor:
Anne-Sophie Denommé-Pichon, Laetitia Gouas, Martin Chevarin, Marlène Rio, Elodie Gautier, Sonia Bouquillon, Nolwenn Jean-Marçais, Jennifer Fabre-Teste, Dominique Martin, Elise Schaefer, Fabienne Giuliano, Didier Lacombe, Sophie Nambot, Gaëlle Vieville, Sophie Blesson, Paul Kuentz, Christine Francannet, Yannis Duffourd, Aurélien Juven, Alice Masurel, Patrick Callier, Arnold Munnich, Salima El Chehadeh, Sophie Rondeau, Christophe Philippe, Amélie Piton, Fanny Laffargue, Catherine Vincent Delorme, Marie Vincent, Olivier Pichon, Bénédicte Gérard, Anne-Laure Mosca-Boidron, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Perrin-Sabourin, Nathalie Marle, Cédric Le Caignec, Laurence Faivre, Hubert Journel, Klaus Dieterich
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
International audience; Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49416efdfdb6fb70d9dd48a27fb46e14
https://hal.archives-ouvertes.fr/hal-02883449
https://hal.archives-ouvertes.fr/hal-02883449
Autor:
Aurélia Jacquette, Alice Goldenberg, Thierry Frebourg, Julien Thevenon, David Geneviève, Anne-Marie Guerrot, Andrée Delahaye-Duriez, Yline Capri, Bruno Leheup, François Lecoquierre, Florence Riccardi, Tiffany Busa, Laurent Villard, Pierre Cacciagli, Vincent Gatinois, Julien Mancini, Chantal Missirian, Lionel Van Maldergem, Massimiliano Rossi, Laurence Perrin, Catherine Vincent-Delorme, Pascale Saugier-Veber, Philippe Khau Van Kien, Gwenaël Nadeau, Annick Toutain, Alain Verloes, Sandrine Marlin, Rolph Pfundt, Elise Schaefer, Arthur Sorlin, Vincent Michaud, Christel Thauvin-Robinet, Philippe Parent, Cyril Mignot, Charles Coutton, Nicole Philip, Véronique Satre, Aude Tessier
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
Item does not contain fulltext KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9893a4cf738da58e20ba8d0b0c43ef2
https://hal.archives-ouvertes.fr/hal-01469066
https://hal.archives-ouvertes.fr/hal-01469066
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
Autor:
Frédéric Huet, Laurent Pasquier, Magali Avila, Clarisse Baumann, Estelle Lopez, V. Cormier, Julien Thevenon, Patrick Callier, Sandrine Marlin, Alice Masurel-Paulet, Christel Thauvin-Robinet, Bernard Aral, Laurence Faivre, Nadège Gigot, Alice Goldenberg, Laurence Duplomb, Elodie Gautier, Tania Attié-Bitach, Lucie Gueneau
Publikováno v:
Human Mutation. 32:1332-1333
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17