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.
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
3.
CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
Development
; 148(23)2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34792097
4.
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
5.
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
Am J Hum Genet
; 107(2): 330-341, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619401
6.
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Reprod Biomed Online
; 47(5): 103328, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742467
7.
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
J Med Genet
; 59(7): 710-718, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348960
8.
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
9.
Leucine zipper transcription factor-like 1 (LZTFL1), an intraflagellar transporter protein 27 (IFT27) associated protein, is required for normal sperm function and male fertility.
Dev Biol
; 477: 164-176, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023333
10.
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
11.
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility.
Am J Hum Genet
; 105(6): 1148-1167, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735292
12.
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
13.
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
14.
Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
Int J Mol Sci
; 23(2)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054852
15.
The genetic architecture of morphological abnormalities of the sperm tail.
Hum Genet
; 140(1): 21-42, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31950240
16.
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
17.
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
18.
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
19.
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
20.
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