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Article

Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.

Andrologia - 1 Oct 2012

Schwarzer J U, Schwarz M

Abstract excerpt

Between 1994 and 2010, a total of 123 patients with obstructive azoospermia due to aplasia of vas deferens (CAVD) were surgically treated. In 110 patients, the condition was bilateral (CBAVD), 13 men had unilateral aplasia (CUAVD), and 10 patients additionally had aplasia of one kidney. All patients underwent CFTR genetic testing, which detected two mutations (homozygous or compound heterozygous condition) in...

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Share to Azoospermia
Share to Congenital Abnormalities
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sperm Injections, Intracytoplasmic

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Source

Identifiers

PMID: 22340520
DOI: 10.1111/j.1439-0272.2012.01281.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.PMID 22340520Read ↗

CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.Semantic proximity Read ↗

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Genetics of the congenital absence of the vas deferens.Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.Semantic proximity Read ↗

[Gene mutations in congenital bilateral absence of the vas deferens: An update].Semantic proximity Read ↗

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Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility.Semantic proximity Read ↗

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.Semantic proximity Read ↗

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