Detalhe da pesquisa
1.
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.
Am J Hum Genet
; 110(3): 516-530, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796361
2.
Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.
Hum Mol Genet
; 32(10): 1730-1740, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708031
3.
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
4.
C9orf131 and C10orf120 are not essential for male fertility in humans or mice.
Dev Biol
; 497: 11-17, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36871790
5.
Fat mass and obesity-associated factor (FTO)-mediated N6-methyladenosine regulates spermatogenesis in an age-dependent manner.
J Biol Chem
; 299(6): 104783, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146971
6.
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
Am J Hum Genet
; 108(8): 1466-1477, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237282
7.
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Am J Hum Genet
; 108(2): 309-323, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472045
8.
Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia.
Mol Hum Reprod
; 30(2)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258527
9.
A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.
Clin Genet
; 106(1): 27-36, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342987
10.
A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.
Hum Reprod
; 39(4): 849-855, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38420683
11.
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
12.
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.
J Med Genet
; 60(8): 827-834, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36593121
13.
Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.
J Assist Reprod Genet
; 41(1): 147-159, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993578
14.
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
J Assist Reprod Genet
; 41(5): 1297-1306, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38492154
15.
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia.
J Assist Reprod Genet
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38568462
16.
Extended application of PGT-M strategies for small pathogenic CNVs.
J Assist Reprod Genet
; 41(3): 739-750, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263474
17.
[Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(5): 519-525, 2024 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-38684294
18.
Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
Hum Mol Genet
; 31(2): 219-231, 2021 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415320
19.
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
20.
X-ray cross-complementing family: the bridge linking DNA damage repair and cancer.
J Transl Med
; 21(1): 602, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679817