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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.
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
4.
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
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460069
7.
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
8.
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
9.
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
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32161152
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33671757
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31292949
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26721930
14.
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
Hum Reprod
; 33(10): 1973-1984, 2018 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30137358
15.
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Am J Hum Genet
; 94(1): 95-104, 2014 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-24360805
16.
Correction to: 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): 1045, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33770252
17.
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
Hum Reprod
; 31(6): 1164-72, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27094479
18.
Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.
Mol Hum Reprod
; 21(2): 169-85, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25354700
19.
Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.
Mol Hum Reprod
; 21(2): 157-68, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25354701
20.
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Am J Hum Genet
; 88(3): 351-61, 2011 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-21397064