Found: 15
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A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6522, doi. 10.3390/ijms23126522
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- Article
M1AP interacts with the mammalian ZZS complex and promotes male meiotic recombination.
- Published in:
- EMBO Reports, 2023, v. 24, n. 2, p. 1, doi. 10.15252/embr.202255778
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- Publication type:
- Article
Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans.
- Published in:
- Human Reproduction Open, 2023, v. 2023, n. 3, p. 1, doi. 10.1093/hropen/hoad022
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- Article
Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees.
- Published in:
- 2022
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- Publication type:
- journal article
Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
- Published in:
- 2021
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- Publication type:
- journal article
A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
- Published in:
- 2021
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- Publication type:
- journal article
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.765639
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- Publication type:
- Article
PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data.
- Published in:
- Briefings in Bioinformatics, 2021, v. 22, n. 3, p. 1, doi. 10.1093/bib/bbaa077
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- Article
A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 564, doi. 10.1111/cge.14383
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- Publication type:
- Article
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 176, doi. 10.1111/cge.13866
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- Publication type:
- Article
CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia‐related mutations in men.
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- Journal of Cellular & Molecular Medicine, 2024, v. 28, n. 7, p. 1, doi. 10.1111/jcmm.18215
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- Publication type:
- Article
A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation.
- Published in:
- Cell Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41421-023-00577-5
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- Publication type:
- Article
Novel frameshift mutation in STK33 is associated with asthenozoospermia and multiple morphological abnormalities of the flagella.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 21, p. 1977, doi. 10.1093/hmg/ddab165
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- Publication type:
- Article
A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1017302
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- Publication type:
- Article
Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1429336
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- Publication type:
- Article