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 …

In this study we performed a systematic sequence analysis of 6 mitochondrial genes
(cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine …

There is increasing data that IVS8-5T variand and TG repeats could lead to impaired
spermatogenesis. To investigate this we performed Sanger sequencing on 50 Bulgarian …

Background Male infertility due to very severe oligozoospermia has been associated with
some genetic risk factors. Objective To investigate the distribution of the mutations in the …

The genetic association between cystic fibrosis transmembrane conductance regulator
(CFTR) gene mutations and male infertility due to congenital bilateral absence of vas …

Cystic fibrosis is the most common genetic disease among Caucasians and affects tissues
including lung, pancreas and reproductive tracts. It has been shown that Endoplasmic …

Aims The aim of our study was to evaluate the relationship between four CFTR variations
and the congenital bilateral absence of the vas deferens (CBAVD). Methods A systematic …

Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis
transmembrane conductance regulator gene. This disorder produces a variable phenotype …

Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic
Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to …

RESUMO A fibrose cística é uma doença autossômica recessiva causada por mutações no
gene regulador de condutância transmembrana na fibrose cística. Produz fenótipo variável …