Detalles de la búsqueda
1.
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Am J Hum Genet
; 108(2): 309-323, 2021 02 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33472045
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37975235
3.
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
4.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31978331
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37742467
6.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31178125
7.
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
8.
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
9.
Water, sanitation, and hygiene access in Senegal and its impact on the occurrence of diarrhea in children under 5 years old.
J Water Health
; 20(11): 1654-1667, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-36448615
10.
Household level of air pollution and its impact on the occurrence of Acute Respiratory Illness among children under five: secondary analysis of Demographic and Health Survey in West Africa.
BMC Public Health
; 22(1): 2327, 2022 12 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36510195
11.
Sperm Ion Transporters and Channels in Human Asthenozoospermia: Genetic Etiology, Lessons from Animal Models, and Clinical Perspectives.
Int J Mol Sci
; 23(7)2022 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35409285
12.
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
13.
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
14.
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
15.
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
16.
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
17.
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility.
Clin Genet
; 99(5): 684-693, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33462806
18.
Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum.
Hum Reprod
; 36(11): 2848-2860, 2021 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34529793
19.
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
20.
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