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Article

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

Journal of assisted reproduction and genetics - 1 Jun 2015

Maor-Sagie Esther, Cinnamon Yuval, Yaacov Barak, Shaag Avraham, Goldsmidt Hannoch, Zenvirt Shamir, Laufer Neri, Richler Carmelit, Frumkin Ayala

Abstract excerpt

PURPOSE: To determine the molecular basis of familial, autosomal-recessive, non-obstructive azoospermia in a consanguineous Iranian Jewish family. METHODS: We investigated the genetic cause of non-obstructive azoospermia in two affected siblings from a consanguineous family. Homozygosity mapping in the DNA samples of the patients and their normospermic brother was followed by exome analysis of one of the...

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Identifiers

PMID: 25899990
DOI: 10.1007/s10815-015-0445-y
PMCID: PMC4491075

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Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.PMID 25899990Read ↗

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The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.Semantic proximity Read ↗

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Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermiaSemantic proximity Read ↗

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.Semantic proximity Read ↗

Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectivesSemantic proximity Read ↗

Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia.Semantic proximity Read ↗

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Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients’ and Offspring HealthSemantic proximity Read ↗

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