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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
Int J Mol Sci;
24(4)2023 Feb 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36835074
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
3D time-lapse imaging of a mouse embryo using intensity diffraction tomography embedded inside a deep learning framework.
Appl Opt;
61(12): 3337-3348, 2022 Apr 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35471429
18.
Treatment of Mouse Sperm with a Non-Catalytic Mutant of PLA2G10 Reveals That PLA2G10 Improves In Vitro Fertilization through Both Its Enzymatic Activity and as Ligand of PLA2R1.
Int J Mol Sci;
23(14)2022 Jul 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35887380
19.
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
20.
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