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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: ghieh f. Mol Hum Reprod. 2020 Sep 1;26(9):665-677. doi: 10.1093/molehr/gaaa050. Mol Hum Reprod. 2020. PMID: 32634216 Free article.
Genetic defects in human azoospermia.
Ghieh F, Mitchell V, Mandon-Pepin B, Vialard F. Ghieh F, et al. Basic Clin Androl. 2019 Apr 23;29:4. doi: 10.1186/s12610-019-0086-6. eCollection 2019. Basic Clin Androl. 2019. PMID: 31024732 Free PMC article.
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.
Ghieh F, Barbotin AL, Swierkowski-Blanchard N, Leroy C, Fortemps J, Gerault C, Hue C, Mambu Mambueni H, Jaillard S, Albert M, Bailly M, Izard V, Molina-Gomes D, Marcelli F, Prasivoravong J, Serazin V, Dieudonne MN, Delcroix M, Garchon HJ, Louboutin A, Mandon-Pepin B, Ferlicot S, Vialard F. Ghieh F, et al. Hum Reprod. 2022 May 30;37(6):1334-1350. doi: 10.1093/humrep/deac057. Hum Reprod. 2022. PMID: 35413094 Free PMC article.
35 results