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Biblio

4 resultats trouvés

Filtres: Auteur is Odou, Marie-Francoise [Clear All Filters]

M

Jourdain A-S, Petit F, Odou M-F, Balduyck M, Brunelle P, Dufour W, Boussion S, Brischoux-Boucher E, Colson C, Dieux A et al.. 2020. Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations. HUMAN MUTATION. 41:222-239.

P

Nozieres C, Zhang C-X, Buffet A, Dupasquier S, Vargas-Poussou R, Guillaud-Bataille M, Cordier-Bussat M, Ruszniewski P, Christin-Maitre S, Murat A et al.. 2014. p.A1a541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation? ANNALES D ENDOCRINOLOGIE. 75:133–140.

Romanet P, Odou M-F, North M-O, Saveanu A, Coppin L, Pasmant E, Mohamed A, Goudet P, Borson-Chazot F, Calender A et al.. 2019. Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants. HUMAN MUTATION. 40:661-674.

U

Romanet P, Mohamed A, Giraud S, Odou M-F, North M-O, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A et al.. 2019. UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 104:753-764.