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.
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.
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
7.
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
8.
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
9.
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
10.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
Am J Hum Genet
; 107(3): 514-526, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791035
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.
Am J Hum Genet
; 105(6): 1168-1181, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735294
17.
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Am J Hum Genet
; 104(4): 738-748, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929735
18.
A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia.
Clin Genet
; 101(1): 55-64, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34595750
19.
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
20.
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