Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants
Zeina Wehbe, Anne-Laure Barbotin, Angèle Boursier, Caroline Cazin, Jean-Pascal Hograindleur, Marie Bidart, Emeline Fontaine, Pauline…
Andrology 2025
Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family
Amir Amiri-Yekta, Sharanya Sen, Florence Hazane-Puch, Célia Tebbakh, Nathalie Roux-Buisson, Caroline Cazin, Nicolas Thierry-Mieg, Ahmed…
Clinical Genetics 2025
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Kherraf ZE, Barbotin AL, Martinez G, Mazet A, Cazin C, Coutton C, Arnoult C, Thierry-Mieg…
Clin Genet. 2024
BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management.
Ea V, Berthozat C, Dreyfus H, Legrand C, Rousselet E, Peysselon M, Baudet L, Martinez…
Int J Mol Sci. 2024
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
Jreijiri F, Cavarocchi E, Amiri-Yekta A, Cazin C, Hosseini SH, El Khouri E, Patrat C,…
Clin Genet 2024
CNN-based approach for 3D artifact correction of intensity diffraction tomography images.
Pierré W, Briard M, Godefroy G, Desissaire S, Dhellemmes M, Llano ED, Loeuillet C, Ray…
Opt Express 2024
Constitutive Androstane Receptor Regulates Germ Cell Homeostasis, Sperm Quality, and Male Fertility via Akt-Foxo1 Pathway.
Monrose M, Holota H, Martinez G, Damon-Soubeyrand C, Thirouard L, Martinot E, Battistelli E, de…
Adv Sci 2024
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
Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.
Friocourt G, Perrin A, Saunders PA, Nikalayevich E, Voisset C, Coutton C, Martinez G, Morel…
Int J Mol Sci. 2023
Cytochalasin D restores nuclear size acting on F-actin and IZUMO1 localization in low-quality spermatozoa.
Martinez G, Cappetta D, Telesca M, Urbanek K, Castaldo G, Dhellemmes M, Mele VG, Chioccarelli…
Int J Biol Sci. 2023
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.
Liu C, Si W, Tu C, Tian S, He X, Wang S, Yang X, Yao…
Am J Hum Genet 2023
Expanding the sperm phenotype caused by mutations in SPATA20: A novel splicing mutation in an infertile patient with partial globozoospermia.
Martinez G, Metzler-Guillemain C, Cazin C, Kherraf ZE, Paulmyer-Lacroix O, Arnoult C, Ray PF, Coutton…
Clin Genet. 2023
