Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling
DAS de Souza, FR Faucz, L Pereira‐Ferrari… - …, 2018 - Wiley Online Library
Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males
with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men …
with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men …
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis
J Yu, Z Chen, Y Ni, Z Li - Human reproduction, 2012 - academic.oup.com
BACKGROUND Numerous studies have reported CFTR mutations in CBAVD (congenital
bilateral absence of the vas deferens) patients, but their results are not completely …
bilateral absence of the vas deferens) patients, but their results are not completely …
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
P Yuan, ZK Liang, H Liang, LY Zheng, D Li, J Li… - …, 2019 - Wiley Online Library
Background Congenital absence of vas deferens (CAVD) is a major cause of obstructive
azoospermia. Mutations in CFTR and ADGRG 2 are responsible for this disease. However …
azoospermia. Mutations in CFTR and ADGRG 2 are responsible for this disease. However …
Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice
YY Wang, YH Lin, YN Wu, YL Chen, YC Lin… - PLoS …, 2017 - journals.plos.org
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
cystic fibrosis (CF) and are associated with congenital bilateral absence of the vas deferens …
cystic fibrosis (CF) and are associated with congenital bilateral absence of the vas deferens …
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction
S Zacarias, MSP Batista, SS Ramalho… - International Journal of …, 2023 - mdpi.com
Cystic Fibrosis (CF) is a genetic disease caused by mutations in the gene encoding the
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more …
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Currently, more …
CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study
L Jiang, J Jin, S Wang, F Zhang, Y Dai, L Shi, S Zhang - Gene, 2017 - Elsevier
A variety of experimental studies have yielded evidence that the cystic fibrosis
transmembrane conductance regulator (CFTR) protein participates in the process of …
transmembrane conductance regulator (CFTR) protein participates in the process of …
[HTML][HTML] Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens
H Li, Q Wen, H Li, L Zhao, X Zhang, J Wang… - Journal of Cystic …, 2012 - Elsevier
BACKGROUND: Genetic testing of the cystic fibrosis transmembrane conductance (CFTR)
gene is currently performed in patients with congenital bilateral absence of vas deferens …
gene is currently performed in patients with congenital bilateral absence of vas deferens …
Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens
CH Lee, CC Wu, YN Wu, HS Chiang - Human reproduction, 2009 - academic.oup.com
BACKGROUND Congenital bilateral absence of the vas deferens (CBAVD) is a distinct
clinical entity accounting for∼ 25% of obstructive azoospermia in infertile men. The …
clinical entity accounting for∼ 25% of obstructive azoospermia in infertile men. The …
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility
L Tamburino, A Guglielmino, E Venti… - Reproductive biomedicine …, 2008 - Elsevier
Mutations of the cystic fibrosis transmembrane regulator (CFTR) gene and polymorphisms,
such as the (TG) m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9 …
such as the (TG) m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9 …
[HTML][HTML] The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens
WH Ni, L Jiang, QJ Fei, JY Jin, X Yang… - Asian journal of …, 2012 - ncbi.nlm.nih.gov
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive
azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator …
azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator …