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 …

Congenital bilateral absence of the vas deferens

Z Cai, H Li - Frontiers in Genetics, 2022 - frontiersin.org
Congenital bilateral absence of the vas deferens (CBAVD) is clinically characterized by the
absence of the bilateral vas deferens; the main clinical manifestation is infertility, accounting …

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

CC Wu, ÖM Alper, JF Lu, SP Wang, L Guo… - Human …, 2005 - academic.oup.com
BACKGROUND: Clinically affected cystic fibrosis (CF) patients present a spectrum of genital
phenotypes ranging from normal fertility to moderately impaired spermatogenesis and …

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy

J Feng, Y Zhang, X Yang, Y Zhang - Reproduction, 2022 - rep.bioscientifica.com
In brief The genetic heterogeneity of CFTR gene mutations in Chinese patients with
congenital absence of the vas deferens (CAVD) differs from the hotspot mutation pattern in …

CFTR regulation of aquaporin-mediated water transport: a target in male fertility

MG Alves, R Sá, TT Jesus, M Sousa… - Current drug …, 2015 - ingentaconnect.com
The formation of competent spermatozoa is associated with the movement of large
quantities of water and electrolytes in the various tissues and luminal fluids of the male …

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens

R Radpour, MAS Gilani, H Gourabi… - MHR: Basic science …, 2006 - academic.oup.com
Congenital bilateral absence of the vas deferens (CBAVD) is responsible for 2–6% of male
infertility in which mutations in the cystic fibrosis transmembrane conductance regulator …

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic …

H Sharma, RS Mavuduru, SK Singh… - Molecular human …, 2014 - academic.oup.com
Cystic fibrosis (CF) is usually considered a rare disease in the Indian population. Two
studies have reported on the frequency of cystic fibrosis transmembrane conductance …

Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations

K Sachdeva, R Saxena, R Puri, S Bijarnia… - Genetic testing and …, 2012 - liebertpub.com
Background: Cystic fibrosis (CF) is the most common inherited disorder in Caucasian
populations, with more than 1400 cystic fibrosis transmembrane conductance regulator …

Intracytoplasmic sperm injection: a review of risks and complications

GH Woldringh, JAM Kremer, DDM Braat… - BJU …, 2005 - Wiley Online Library
In the mini‐review section this month, there are four reviews on different subjects:
intracytoplasmic sperm injection, photodynamic therapy in prostate cancer, and the roles of …

[HTML][HTML] All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection

E Mocanu, R Shattock, D Barton, M Rogers, R Conroy… - Fertility and sterility, 2010 - Elsevier
We assessed the frequency of CFTR mutations in groups with varying degrees of sub-fertility
and compared these groups to a fertile male group with proven paternity. Screening for …