Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.
BMC Pediatr
; 23(1): 429, 2023 08 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37641008
6.
Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
J Assist Reprod Genet
; 40(10): 2485-2492, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574497
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Machine learning in a real-world PFO study: analysis of data from multi-centers in China.
BMC Med Inform Decis Mak
; 22(1): 305, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434650
14.
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
15.
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
16.
Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
Clin Genet
; 100(6): 731-742, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569065
17.
Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.
Reprod Biol Endocrinol
; 19(1): 129, 2021 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429122
18.
Differences in the Gut Microbiome of Women With and Without Hypoactive Sexual Desire Disorder: Case Control Study.
J Med Internet Res
; 23(2): e25342, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33629964
19.
A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
J Assist Reprod Genet
; 37(6): 1421-1429, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314195
20.
Transcatheter closure of a rare ruptured giant non-coronary Valsalva sinus aneurysm.
Eur Heart J
; 43(22): 2164, 2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388423