Detalhe da pesquisa
1.
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
Am J Hum Genet
; 109(3): 508-517, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172124
2.
CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans.
Clin Genet
; 105(3): 317-322, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975235
3.
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Clin Genet
; 105(2): 220-225, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950557
4.
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Int J Mol Sci
; 24(3)2023 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768883
5.
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
Am J Hum Genet
; 104(2): 331-340, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686508
6.
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Clin Genet
; 102(1): 22-29, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460069
7.
Selective termination of lncRNA transcription promotes heterochromatin silencing and cell differentiation.
EMBO J
; 36(17): 2626-2641, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28765164
8.
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.
Hum Genet
; 140(7): 1031-1043, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33689014
9.
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
10.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Hum Genet
; 140(1): 43-57, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108537
11.
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Am J Hum Genet
; 102(4): 636-648, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29606301
12.
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
Am J Hum Genet
; 103(3): 400-412, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122540
13.
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
Clin Genet
; 99(5): 684-693, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33462806
14.
Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report.
Hum Reprod
; 36(3): 693-701, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332558
15.
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
J Med Genet
; 57(10): 708-716, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161152
16.
MatrixDB: integration of new data with a focus on glycosaminoglycan interactions.
Nucleic Acids Res
; 47(D1): D376-D381, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371822
17.
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
Int J Mol Sci
; 22(4)2021 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33671757
18.
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
Clin Genet
; 96(5): 394-401, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292949
19.
CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
Hum Reprod
; 34(10): 2071-2079, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621862
20.
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
Hum Mol Genet
; 25(5): 878-91, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721930