Detalhe da pesquisa
1.
Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.
Am J Hum Genet
; 109(1): 157-171, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34932939
2.
A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
Clin Genet
; 2024 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342987
3.
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia.
J Med Genet
; 60(2): 144-153, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35387802
4.
CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.
Hum Mol Genet
; 30(23): 2240-2254, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231842
5.
Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.
Hum Mutat
; 42(1): 31-36, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169450
6.
Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella.
Front Cell Dev Biol
; 11: 1184331, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37325566
7.
A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans.
Asian J Androl
; 23(2): 197-204, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037173
8.
Genetic underpinnings of asthenozoospermia.
Best Pract Res Clin Endocrinol Metab
; 34(6): 101472, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191078