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.
Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
Am J Hum Genet
; 108(3): 469-481, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626338
3.
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
4.
SARS-CoV-2 infection is detrimental to pregnancy outcomes after embryo transfer in IVF/ICSI: a prospective cohort study.
BMC Med
; 22(1): 124, 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500129
5.
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
6.
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
7.
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
8.
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
9.
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
10.
[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 Chinês
| MEDLINE | ID: mdl-38684294
11.
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
12.
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
13.
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.
Am J Hum Genet
; 107(1): 24-33, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32502391
14.
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
15.
Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility.
Hum Reprod
; 38(7): 1390-1398, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140151
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.
Histological endometrial dating: a reliable tool for personalized frozen-thawed embryo transfer in patients with repeated implantation failure in natural cycles.
BMC Pregnancy Childbirth
; 23(1): 199, 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949405
18.
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest.
J Med Genet
; 59(9): 850-857, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34611029
19.
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
20.
The effect of carrier characteristics and female age on preimplantation genetic testing results of blastocysts from Robertsonian translocation carriers.
J Assist Reprod Genet
; 40(8): 1995-2002, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338749