|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital Absence of Vas Deferens (CAVD) represents a major cause of obstructive azoospermia and is mainly related to biallelic alteration of the CFTR gene, also involved in Cystic Fibrosis.
|
31845523 |
2019 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital bilateral absence of vas deferens (CBAVD), a frequent cause of obstructive azoospermia and male infertility in Chinese, is mainly due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
31357024 |
2019 |
|
Obstructive azoospermia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of SLC9A3 decreases CFTR protein and causes obstructive azoospermia in mice.
|
30797621 |
2019 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results show that double heterozygosity of cystic fibrosis (CF) and CFTR-related disorder (CFTR-RD) mutations are found in a high percentage (22.7%) of infertile men with obstructive azoospermia, but not in other studied groups of infertile men.
|
25386751 |
2014 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present study was conducted to identify the spectrum and frequency of CFTR gene mutations in infertile Indian males with non-CBAVD obstructive azoospermia (n=60) and spermatogenic failure (n=150).
|
25010724 |
2014 |
|
Obstructive azoospermia
|
0.200 |
Biomarker
|
disease |
BEFREE |
To investigate cystic fibrosis transmembrane conductance regulator (CFTR) gene in Chinese men with congenital bilateral absence of vas deferens (CBAVD) and other obstructive azoospermia.
|
23953609 |
2013 |
|
Obstructive azoospermia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Patients with vasal agenesis or unexplained obstructive azoospermia and low semen volume should be tested for abnormalities of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
22729088 |
2012 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
It is well established that cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations are involved in congenital bilateral absence of the vas deferens (CBAVD), causing obstructive azoospermia and male infertility.
|
21762191 |
2012 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases.
|
22103471 |
2012 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The common CFTR gene mutations were tested on blood samples from 53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals.
|
21976147 |
2011 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As CFTR mutations have been detected in males with infertility, 46 unrelated Algerian individuals with obstructive azoospermia were also investigated.
|
17572159 |
2008 |
|
Obstructive azoospermia
|
0.200 |
Biomarker
|
disease |
BEFREE |
We investigated whether this method could improve CFTR detection rates in men with obstructive azoospermia in a prospective study of men with obstructive azoospermia and their partners who were referred for genetic counselling and testing at one of two institutions.
|
14998948 |
2004 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis for CFTR mutations should be limited to those with obstructive azoospermia or those with a family history of cystic fibrosis.
|
12919133 |
2003 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene.
|
12422349 |
2002 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
11471192 |
2001 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A CFTR mutation was detected in 26 of 59 patients with obstructive azoospermia.
|
10856487 |
2000 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Couples requesting microsurgical epididymal sperm aspiration and in vitro fertilization, e.g. intracytoplasmic sperm injection, should be offered genetic counselling and molecular genetic analysis of the CFTR gene, if male infertility due to obstructive azoospermia is the underlying cause.
|
10755189 |
2000 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To assess how often CFTR mutations or sequence alterations undetected by routine screening are detected with more extensive screening in obstructive azoospermia.
|
10376575 |
1999 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Of the 10 cases with obstructive azoospermia, three (30%) had one CFTR mutation and in the remaining seven (70%) no mutations were found.
|
9620832 |
1998 |
|
Obstructive azoospermia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Only recently has the strong association between mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and various subtypes of obstructive azoospermia been elucidated.
|
9755815 |
1998 |