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1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Deletion of the Spata3 Gene Induces Sperm Alterations and In Vitro Hypofertility in Mice.
Int J Mol Sci
; 22(4)2021 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33669425
8.
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 27(7): 1196-1211, 2018 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29365104
9.
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.
Mol Reprod Dev
; 85(8-9): 682-695, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30118583
10.
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Hum Mol Genet
; 28(6): 1052, 2019 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30517620
11.
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
12.
In-vitro effects of Thymus munbyanus essential oil and thymol on human sperm motility and function.
Reprod Biomed Online
; 31(3): 411-20, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26194886
13.
IL-2 and IL-7 determine the homeostatic balance between the regulatory and conventional CD4+ T cell compartments during peripheral T cell reconstitution.
J Immunol
; 189(7): 3339-46, 2012 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22933631
14.
Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.
iScience
; 27(3): 109260, 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38439971
15.
Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans.
iScience
; 26(8): 107354, 2023 Aug 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37520705
16.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Nat Commun
; 9(1): 686, 2018 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29449551
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