Les facteurs de risque génétiques et environnementaux des cancers de l’endomètre

Autor: Sénéchal, Claire, Cottereau, Edouard, de Pauw, Antoine, Elan, Camille, Dagousset, Isabelle, Fourchotte, Virginie, Gauthier-Villars, Marion, Lae, Marick, Stoppa-Lyonnet, Dominique, Buecher, Bruno

Publikováno v: In Bulletin du Cancer March 2015 102(3):256-269

High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency.

Autor: Ghorbanoghli, Zeinab, van Kouwen, Mariëtte, Versluys, Birgitta, Bonnet, Delphine, Devalck, Christine, Tinat, Julie, Januszkiewicz-Lewandowska, Danuta, Costas, Consuelo Calvino, Cottereau, Edouard, Hardwick, James C. H., Wimmer, Katharina, Brugieres, Laurence, Colas, Chrystelle, Vasen, Hans F. A.

Publikováno v: Journal of Medical Genetics; Jul2023, Vol. 60 Issue 7, p679-684, 6p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

Autor: Cottereau , Edouard, Mortemousque , Isabelle, Moizard , Marie-Pierre, Bürglen , Lydie, Lacombe , Didier, Gilbert-Dussardier , Brigitte, Sigaudy , Sabine, Boute , Odile, David , Albert, Faivre , Laurence, Amiel , Jeanne, Robertson , Robert, Viana Ramos , Fabiana, Bieth , Eric, Odent , Sylvie, Demeer , Bénédicte, Mathieu , Michéle, Gaillard , Dominique, Van Maldergem , Lionel, Baujat , Geneviéve, Maystadt , Isabelle, Héron , Delphine, Verloes , Alain, Philip , Nicole, Cormier-Daire , Valérie, Frouté , Marie-Françoise, Pinson , Lucile, Blanchet , Patricia, Sarda , Pierre, Willems , Marjolaine, Jacquinet , Adeline, Ratbi , Ilham, Van Den Ende , Jenneke, Lackmy-Port Lis , Marylin, Goldenberg , Alice, Bonneau , Dominique, Rossignol , Sylvie, Toutain , Annick

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2013, 163C (2), pp.92--105. ⟨10.1002/ajmg.c.31360⟩
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2013, 163C (2), pp.92--105. ⟨10.1002/ajmg.c.31360⟩
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2013, 163C (2), pp.92--105. 〈10.1002/ajmg.c.31360〉

International audience; Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly, variab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::082b1291b26186e5d93158e2114f8918
https://hal.archives-ouvertes.fr/hal-01064382