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authFullName_s : Micheline Misrahi

Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait

Sandrine Caburet , Abdelkader Heddar , Elodie Dardillac , Héléne Creux , Marie Lambert et al.
Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106672. ⟨10.1136/jmedgenet-2019-106672⟩
Journal articles hal-03044709v1
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A homozygous $FANCM$ mutation underlies a familial case of non-syndromic primary ovarian insufficiency

Baptiste Fouquet , Patrycja Pawlikowska , Sandrine Caburet , Céline Guigon , Marika Mäkinen et al.
eLife, 2017, 6, pp.e30490. ⟨10.7554/eLife.30490⟩
Journal articles hal-02391886v1

Claudin-6 and Occludin Natural Variants Found in a Patient Highly Exposed but Not Infected with Hepatitis C Virus (HCV) Do Not Confer HCV Resistance In Vitro

Lucie Fénéant , Jade Ghosn , Baptiste Fouquet , Francois Helle , Sandrine Belouzard et al.
PLoS ONE, 2015, 10 (11), pp.e0142539. ⟨10.1371/journal.pone.0142539⟩
Journal articles hal-02104504v1
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar , Cagri Ogur , Sabrina da Costa , Inès Braham , Line Billaud-Rist et al.
EBioMedicine, 2022, 84, pp.104246. ⟨10.1016/j.ebiom.2022.104246⟩
Journal articles hal-03790543v1

Thyrotropin receptor trafficking relies on the hScrib-ƒÒPIX-GIT1-ARF6 pathway

Olivier Lahuna , Mylène Quellari , Caroline Achard , Sébastien Nola , Géri Méduri et al.
EMBO Journal, 2005, 24 (7), pp.1364-1374. ⟨10.1038/sj.emboj.7600616⟩
Journal articles hal-00094094v1

Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency

Ilpo Huhtaniemi , Outi Hovatta , Antonio La Marca , Gabriel Livera , Danielle Monniaux et al.
Trends in Endocrinology and Metabolism = Trends in Endocrinology & Metabolism , 2018, 29 (6), pp.400-419. ⟨10.1016/j.tem.2018.03.010⟩
Journal articles hal-02628564v1