Found: 12
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Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 1, p. 118, doi. 10.3390/cells11010118
- By:
- Publication type:
- Article
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02792-7
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- Publication type:
- Article
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2187, doi. 10.3390/ijms22042187
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- Publication type:
- Article
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 5, p. 1, doi. 10.15252/emmm.201708515
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- Publication type:
- Article
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 22, doi. 10.1111/cge.14144
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- Publication type:
- Article
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 394, doi. 10.1111/cge.13604
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- Publication type:
- Article
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.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
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.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1031, doi. 10.1007/s00439-021-02270-7
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- Publication type:
- Article
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 43, doi. 10.1007/s00439-020-02229-0
- By:
- Publication type:
- Article
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.86845
- By:
- Publication type:
- Article