A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand bre...

by Sandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, Emmanuelle Martini, Nada D. Farran, Bérangère Legois, Gabriel Livera, Johnny S. Younis, Stavit Shalev, Reiner A. Veitia
Published 2019-04-01

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

by Bérénice A Benayoun, Sandrine Caburet, Aurélie Dipietromaria, Adrien Georges, Barbara D'Haene, P J Eswari Pandaranayaka, David L'Hôte, Anne-Laure Todeschini, Sankaran Krishnaswamy, Marc Fellous, Elfride De Baere, Reiner A Veitia
Published 2010-01-01

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure.

by Sandrine Caburet, Petra Zavadakova, Ziva Ben-Neriah, Kamal Bouhali, Aurélie Dipietromaria, Céline Charon, Céline Besse, Paul Laissue, Vered Chalifa-Caspi, Sophie Christin-Maitre, Daniel Vaiman, Giovanni Levi, Reiner A Veitia, Marc Fellous
Published 2012-01-01

A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

by Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois, Bettina Bessieres, Alain Gougeon, Alexandra Benachi, Gabriel Livera, Filippo Rosselli, Reiner A Veitia, Micheline Misrahi
Published 2017-12-01

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

by Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo, Dirk G de Rooij, Laura Gómez-H, Rodrigo Garcia-Valiente, Anne Laure Todeschini, Paloma Duque, Manuel Adolfo Sánchez-Martin, Stavit A Shalev, Elena Llano, Reiner A Veitia, Alberto M Pendás
Published 2020-08-01