Detalles de la búsqueda
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
Am J Hum Genet
; 99(2): 489-500, 2016 08 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27486783
12.
Penetration and antiviral efficacy of total and unbound maraviroc, raltegravir and rilpivirine in both female and male genital fluids from HIV-positive patients receiving regimens containing these antiretrovirals.
J Antimicrob Chemother
; 72(11): 3167-3171, 2017 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28961979
13.
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
14.
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
15.
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Am J Hum Genet
; 92(5): 760-6, 2013 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-23582645
16.
Testicular impairment in Primary Adrenal Insufficiency caused by Nicotinamide Nucleotide Transhydrogenase (NNT) deficiency - a case report: implication of oxidative stress and importance of fertility preservation.
Basic Clin Androl
; 33(1): 17, 2023 Mar 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36918776
17.
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
18.
Assisted reproductive technology outcomes in women with a chronic viral disease.
AIDS
; 35(7): 1073-1081, 2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33946086
19.
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
J Genet Genomics
; 50(7): 536-540, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37116580
20.
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