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Les publications :

Génétique, épigénétiques et thérapies de l’infertilité

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A recurrent loss-of-function variant in DRC1 causes non-syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes

Tebbakh C, Barbotin AL, Martinez G, Boursier A, Wehbe Z, Hammouda A, Thierry-Mieg N, Arnoult…

Andrology 2025

Sperm fertility in mice with Oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA.

Vilpreux C, Martinez G, Court M, Appaix F, Duteyrat JL, Henry M, Vollaire J, Ayad…

eLife 2025

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Muroňová J, Kherraf ZE, Giordani E, Lambert E, Eckert S, Cazin C, Amiri-Yekta A, Court…

Elife 2024

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants.

Wehbe Z, Barbotin AL, Boursier A, Cazin C, Hograindleur JP, Bidart M, Fontaine E, Plouvier…

Andrology 2024

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

Coudert A, Cazin C, Amiri-Yekta A, Fourati Ben Mustapha S, Zouari R, Bessonat J, Zoghmar…

J Genet Genomics. 2023

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.

Dacheux D, Martinez G, Broster Reix C, Beurois J, Lores P, Tounkara M, Dupuy J,…

Elife 2023

Oligogenic heterozygous inheritance of sperm abnormalities in mouse

Martinez G, Coutton C, Loeuillet C, Cazin C, Muroňová J, Boguenet M, Lambert E, Dhellemmes…

Elife 2022 Apr 22;11:e75373. doi: 10.7554/eLife.75373.

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

Kherraf ZE, Cazin C, Bouker A, Fourati Ben Mustapha S, Hennebicq S, Septier A, Coutton…

Am J Hum Genet 2022 Mar 3;109(3):508-517. doi: 10.1016/j.ajhg.2022.01.011. Epub 2022 Feb 15

Biallelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations (MMAF) in human and mouse

Coutton C., Martinez G., …Thierry-Mieg N., Arnoult C. * and Ray P.F.

American Journal of Human genetics 2019 104(2):331-340 IF 8.85 *co dernier auteur

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.

Beurois J, Martinez G, …, Arnoult C, Ray PF, Coutton C.

Hum Reprod 2019 34(10): 2071-2079. IF 5.72

A homozygous ancestral SVA-insertion mediated deletion in WDR66 induces multiple morphological abnormalities of the sperm flagellum and male infertility

Kherraf Z.E., Amiri-Yekta A., …, Arnoult C., Bonhivers M. and Ray P.F.

American Journal of Human genetics 2018 103(3):400-412. doi: 10.1016/j.ajhg.2018.07.014 IF 10.36

Absence of cilia- and flagella-associated protein 69 (CFAP69) causes male infertility due to multiple morphological abnormalities of the flagella (MMAF) in human and mouse

Dong F.N., Amiri-Yekta A., …. Arnoult C., Touré A. , Ray P.F., Zhao H., Coutton…

American Journal of Human genetics 2018 102: 636-648. doi: 10.1016/j.ajhg.2018.03.007 IF IF 8.85

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