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 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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
J Assist Reprod Genet
; 2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38492154
13.
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
14.
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
15.
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype.
Clin Genet
; 103(4): 495-497, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527329
16.
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
Hum Reprod
; 38(7): 1399-1411, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37192818
17.
RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.
J Med Genet
; 59(10): 1010-1016, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121647
18.
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.
J Assist Reprod Genet
; 40(1): 41-51, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36515799
19.
Tim-3: An inhibitory immune checkpoint is associated with maternal-fetal tolerance and recurrent spontaneous abortion.
Clin Immunol
; 245: 109185, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36372320
20.
Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
Mol Hum Reprod
; 28(6)2022 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35485979