Detalles de la búsqueda
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35172124
2.
CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.
Development;
148(23)2021 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34792097
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37950557
4.
Dual role of histone variant H3.3B in spermatogenesis: positive regulation of piRNA transcription and implication in X-chromosome inactivation.
Nucleic Acids Res;
50(13): 7350-7366, 2022 07 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35766398
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32619401
6.
Role of periosteum during healing of alveolar critical size bone defects in the mandible: a pilot study.
Clin Oral Investig;
27(8): 4541-4552, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261496
7.
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Int J Mol Sci;
24(3)2023 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36768883
8.
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.
Am J Hum Genet;
104(4): 738-748, 2019 04 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30929735
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31735292
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30686508
11.
When idiopathic male infertility is rooted in maternal malnutrition during the perinatal period in mice.
Biol Reprod;
106(3): 463-476, 2022 03 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34875016
12.
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Clin Genet;
102(1): 22-29, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460069
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35471429
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35887380
15.
The genetic architecture of morphological abnormalities of the sperm tail.
Hum Genet;
140(1): 21-42, 2021 Jan.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33108537
19.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29606301
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30122540