Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with aCDH1germline mutation

Autor: Olivier Caron, David Malka, Audrey Remenieras, Bruno Buecher, Patrick R. Benusiglio, Camille Tlemsani, Mathilde Warcoin, Dominique Stoppa-Lyonnet, Qing Wang, Chystelle Colas, Jessica Moretta, Emmanuelle Mouret-Fourme, Pierre Romero, Martine Blayau, Sophie Grandjouan, Etienne Rouleau, Marina Di Maria, Nancy Uhrhammer, Antoine De Pauw, Catherine Noguès

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (8), pp.563-565. ⟨10.1136/jmedgenet-2015-103153⟩
Journal of Medical Genetics, 2015, 52 (8), pp.563-565. ⟨10.1136/jmedgenet-2015-103153⟩
Journal of Medical Genetics, BMJ Publishing Group, 2015, 52 (8), pp.563-565. 〈10.1136/jmedgenet-2015-103153〉

The international, consensus testing criteria for CDH1 germline mutations were recently revised in order to increase their performances, particularly their sensitivity. It is paramount to identify a high proportion of actual mutation carriers, as fin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028c7e7cde1735e41a361e6edbc95dd4
https://doi.org/10.1136/jmedgenet-2015-103153

Highlighting the impact of cascade carrier testing in cystic fibrosis families

Autor: Marie-Pierre Audrézet, Claude Férec, Sébastien Schmitt, I. Frachon, C. L'Hostis, Philippe Parent, Martine Blayau, Emmanuelle Génin, Virginie Scotet, Ingrid Duguépéroux, Rémy Bernard, Gilles Rault

Publikováno v: Journal of Cystic Fibrosis
Journal of Cystic Fibrosis, Elsevier, 2016, 15 (4), pp.452-459
Journal of Cystic Fibrosis, 2016, 15 (4), pp.452-459

Cascade carrier testing within cystic fibrosis (CF) affected families offers relatives of CF patients the opportunity to know their status regarding the mutation that segregates within their family, and thus to make informed reproductive choices. As

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3887c44995e674113933adb0fd34d6
https://hal.univ-brest.fr/hal-02042301

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

Autor: Nancy Uhrhammer, Florence Coulet, Sylviane Olschwang, Christophe Béroud, Martine Blayau, Stéphane Pinson, Christine Maugard, Etienne Rouleau, Stéphanie Baert-Desurmont, Philippe Grandval, Pascaline Gaildrat, Aurelie Fabre, Audrey Remenieras, Marie-Pierre Buisine

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2014, 52 (1), pp.25-27. ⟨10.1136/jmedgenet-2014-102752⟩
Journal of Medical Genetics, 2014, 52 (1), pp.25-27. ⟨10.1136/jmedgenet-2014-102752⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a3ffcdabbcfb2780a60eef37a841f8
https://doi.org/10.1136/jmedgenet-2014-102752

Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq

Autor: Elouan Cherot, Sylvie Jaillard, Sylvie Odent, Christèle Dubourg, Vincent Jauffret, Marie-Pascale Beaumont-Epinette, Marc-Antoine Belaud-Rotureau, Guillaume Halet, Martine Blayau, Célia Ravel

Publikováno v: Morphologie
Morphologie, 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens-Paris 12-14 mars 2015, 99 (327), pp.168. ⟨10.1016/j.morpho.2015.09.043⟩
Morphologie, Elsevier Masson, 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens-Paris 12-14 mars 2015, 99 (327), pp.168. ⟨10.1016/j.morpho.2015.09.043⟩

Objet L’insuffisance ovarienne prematuree (IOP) est une pathologie caracterisee par une absence ou un arret de la fonction ovarienne normale avant l’âge de 40 ans. Elle peut se manifester par une amenorrhee ou par une menopause precoce. Elle est

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c996619b67420f5d8d4d6cddc6dd75bb
https://univ-rennes.hal.science/hal-01245011

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

Autor: Julia B. Winston, S Lejeune Dumoulin, Michael Lovett, Sérgio Castedo, Carla Oliveira, Juanliang Cai, Stéphanie Baert-Desurmont, Michel Scotté, C Marroni, Cosette Martin, José Carlos Machado, Michel Vekemans, Fátima Carneiro, Sylvie Manouvrier, Cláudio Osmar Pereira Alexandre, Rachid Karam, C. Graziadio, J P Triboulet, F Le Pessot, A Hedouin, A Hartmann, T Attié, P Hochain, Raquel Seruca, Ph Pellerin, Thierry Frebourg, Martine Blayau, Ethylin Wang Jabs

Publikováno v: Journal of Medical Genetics. 43:138-142

We report the association of CDH1/E‐cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b0d8cec39479ba7d720e0f68f999c5
https://doi.org/10.1136/jmg.2005.031385