Detalhe da pesquisa
1.
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
2.
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.
J Med Genet
; 61(6): 553-565, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38341271
3.
Novel MEIOB pathogenic variants including a homozygous non-canonical splicing variant, cause meiotic arrest and human non-obstructive azoospermia.
Clin Genet
; 105(1): 99-105, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37715646
4.
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Nucleic Acids Res
; 50(16): 9115-9126, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35993808
5.
Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.
J Assist Reprod Genet
; 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430325
6.
ACROSIN deficiency causes total fertilization failure in humans by preventing the sperm from penetrating the zona pellucida.
Hum Reprod
; 38(6): 1213-1223, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004249
7.
Hsp90 is a potential risk factor for ovarian cancer prognosis: an evidence of a Chinese clinical center.
BMC Cancer
; 23(1): 489, 2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259027
8.
Distributed Li-Ion Flux Enabled by Sulfonated Covalent Organic Frameworks for High-Performance Lithium Metal Anodes.
Macromol Rapid Commun
; 44(7): e2200803, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519731
9.
Novel deleterious splicing variant in HFM1 causes gametogenesis defect and recurrent implantation failure: concerning the risk of chromosomal abnormalities in embryos.
J Assist Reprod Genet
; 40(7): 1689-1702, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864181
10.
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
Hum Mutat
; 43(3): 434-443, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923715
11.
Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Hum Mutat
; 43(12): 2079-2090, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135717
12.
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Hum Genet
; 141(11): 1795-1809, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587281
13.
Non-invasive molecular biomarkers for predicting outcomes of micro-TESE in patients with idiopathic non-obstructive azoospermia.
Expert Rev Mol Med
; 24: e22, 2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659383
14.
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
Clin Genet
; 102(2): 130-135, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543642
15.
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia.
Reprod Biol Endocrinol
; 20(1): 63, 2022 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35366911
16.
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.
Reprod Biol Endocrinol
; 20(1): 41, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35232447
17.
Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
Reprod Biol Endocrinol
; 20(1): 5, 2022 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34980136
18.
Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.
Nucleic Acids Res
; 48(D1): D913-D926, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642496
19.
Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.
J Assist Reprod Genet
; 39(1): 251-259, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657236
20.
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Hum Genet
; 140(9): 1367-1377, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255152