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Article

Screening Young syndrome patients for CFTR mutations.

American journal of respiratory and critical care medicine - 1 Oct 1995

Friedman K J, Teichtahl H, De Kretser D M, Temple-Smith P, Southwick G J, Silverman L M, Highsmith W E, Boucher R C, Knowles M R

Abstract excerpt

Young syndrome is characterized by obstructive azoospermia associated with chronic sinobronchial disease of an infectious nature, but normal sweat-gland and pancreatic function as well as normal nasal potential differences. Congenital bilateral absence of the vas deferens (CBAVD) in some patients arises from mutations within the cystic fibrosis (CF) transmembrane regulator (CFTR) gene. Because of some...

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Source

Identifiers

PMID: 7551394
DOI: 10.1164/ajrccm.152.4.7551394

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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Screening Young syndrome patients for CFTR mutations.PMID 7551394Read ↗

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CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.Semantic proximity Read ↗

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.Semantic proximity Read ↗

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.Semantic proximity Read ↗

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.Semantic proximity Read ↗

Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis.Semantic proximity Read ↗

Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.Semantic proximity Read ↗

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.Semantic proximity Read ↗

L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.Semantic proximity Read ↗

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