Detalhe da pesquisa
1.
Cornichon protein CNIH4 is not essential for mice gametogenesis and fertility.
Dev Biol
; 496: 15-23, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36657507
2.
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Am J Hum Genet
; 108(2): 324-336, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508233
3.
A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.
J Assist Reprod Genet
; 41(1): 109-120, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831349
4.
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella.
Hum Mol Genet
; 30(21): 1977-1984, 2021 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155512
5.
In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.
Mol Genet Genomics
; 297(3): 719-730, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305148
6.
Testis-specific fascin component FSCN3 is dispensable for mouse spermatogenesis and fertility.
Mol Biol Rep
; 49(7): 6261-6268, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35449315
7.
Inactivation of testis-specific gene C4orf46 is dispensable for spermatogenesis and fertility in mouse.
Mamm Genome
; 32(5): 364-370, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34076717
8.
A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.
Reprod Biomed Online
; 43(5): 913-919, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34493464
9.
Knockout of the family with sequence similarity 181, member A (Fam181a) gene does not impair spermatogenesis or male fertility in the mouse.
Reprod Fertil Dev
; 2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34253288
10.
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Am J Hum Genet
; 109(7): 1343, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803236
11.
A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.
Basic Clin Androl
; 34(1): 4, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317066
12.
A homozygous KASH5 frameshift mutation causes diminished ovarian reserve, recurrent miscarriage, and non-obstructive azoospermia in humans.
Front Endocrinol (Lausanne)
; 14: 1128362, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864840
13.
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
Asian J Androl
; 25(3): 350-355, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308074
14.
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
JCI Insight
; 8(3)2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752199
15.
The evolutionarily conserved gene, Fam114a2, is dispensable for fertility in mouse.
Reprod Biol
; 21(3): 100531, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34315090
16.
The Molecular Mechanism of Sex Hormones on Sertoli Cell Development and Proliferation.
Front Endocrinol (Lausanne)
; 12: 648141, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34367061
17.
Exonuclease 5 is dispensable for meiotic progression and male fertility in mouse.
Gene
; 769: 145254, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33164760
18.
Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.
Asian J Androl
; 23(6): 627-632, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34100391
19.
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility.
Sci Bull (Beijing)
; 65(24): 2120-2129, 2020 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732965