Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG 2 alleles

27 Feb 2019

Abstract excerpt

BACKGROUND: Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes in Chinese population and the reasons of the differences from Caucasian cohorts were not clear. OBJECTIVES: (i) To study the characteristic and functional consequences of CFTR and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis Research Advances
Share to Genetic and Kidney Cyst Diseases
Share to Tracheal and airway disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30811104
DOI: 10.1111/andr.12592

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG 2 allelesPMID 30811104Read ↗

Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples.Semantic proximity Read ↗

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.Semantic proximity Read ↗

Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†.Semantic proximity Read ↗

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.Semantic proximity Read ↗

Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients.Semantic proximity Read ↗

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.Semantic proximity Read ↗

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.Semantic proximity Read ↗

A novel compound heterozygous mutation in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigreeSemantic proximity Read ↗

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.Semantic proximity Read ↗

A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens.Semantic proximity Read ↗

Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.Semantic proximity Read ↗

Novel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.