Detalhe da pesquisa
1.
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
2.
Homozygous variants in SYCP2L cause premature ovarian insufficiency.
J Med Genet
; 58(3): 168-172, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303603
3.
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
4.
DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.
J Med Genet
; 55(3): 198-204, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331980
5.
Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.
Ann Hematol
; 98(1): 223-226, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961904
6.
Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.
HGG Adv
; 5(1): 100256, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981762
7.
Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice.
Hum Reprod Open
; 2024(1): hoae003, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38312775
8.
A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility.
Asian J Androl
; 2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36960498
9.
Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans.
Asian J Androl
; 24(4): 359-366, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755699
10.
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
11.
Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.
Mol Genet Genomic Med
; 8(4): e1165, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32048466
12.
In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency.
Front Genet
; 10: 1016, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31803224
13.
Phenotypic and molecular characteristics of androgen insensitivity syndrome patients.
Asian J Androl
; 20(5): 473-478, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785970
14.
A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.
J Genet Genomics
; 47(12): 785-788, 2020 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33541821