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

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles

(2019) P. Yuan et al.   Andrology

Do FDA label changes work? Assessment of the 2010 class label change for proton pump inhibitors using the Sentinel System's analytic tools

(2018) Rachel E. Sobel et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

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

(2018) Hongcai Cai et al.   GENETICS IN MEDICINE

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

(2018) Muhammad Jaseem Khan et al.   Scientific Reports

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

(2018) Bin Yang et al.   Molecular Genetics & Genomic Medicine

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

(2017) D. A. S. de Souza et al.   Andrology

Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population

(2017) B. Yang et al.   Andrology

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Obstructive Azoospermia

(2013) Matthew S. Wosnitzer et al.   UROLOGIC CLINICS OF NORTH AMERICA

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

(2011) Jianmin Yu et al.   HUMAN REPRODUCTION

Cystic fibrosis

(2009) Brian P O'Sullivan et al.   LANCET