|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene responsible for cystic fibrosis could show the relationship between this disease and bilateral absence of vas deferens.
|
22148899 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.
|
22842702 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigate ΔF508 mutation and IVS8-polyT polymorphism in CFTR gene in Tunisian infertile men without CBAVD.
|
21762191 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population.
|
22103471 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The overall frequency of CFTR mutations in CBAVD and the odds ratio (OR) for common specific alleles were pooled under random-effect or fixed-effect model as appropriate.
|
22081250 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.
|
22340520 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure.
|
22390181 |
2012 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the vas deferens seems to be one of the tissues most susceptible to a reduction in the normal CFTR transcripts levels, and as two mild mutations are sufficient to induce CBAVD phenotype, these findings raise the possibility that these uncommon variants may be a novel cause of CBAVD.
|
20972246 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
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 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
According to present knowledge, congenital bilateral absence of vas deferens (CBAVD), acute recurrent or chronic pancreatitis and disseminated bronchiectasis, all with CFTR dysfunction, are CFTR-RDs.
|
21658649 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, common CFTR haplotypes modulate ICP and CBAVD susceptibility alone and in heterozygous CFTR and p.Asn34Ser mutation carriers.
|
21520337 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.
|
21254931 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Among them, 26 patients (5 having CF, 10 CBAVD (congenital bilateral absence of the vas deferens) and 11 with CF-like symptoms) and 14 healthy subjects were compound heterozygous for a second CFTR mutation.
|
20717170 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier.
|
20657600 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Second, expression of the 621+3 A>G variant in HeLa cells using a hybrid minigene showed that 39.5+/-1.1% of transcripts were correctly spliced, indicating that its effects on mRNA splicing are similar to those of the CFTR intron 8 5T variant, associated with congenital bilateral absence of vas deferens (CBAVD), but not with CF.
|
19893581 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether genetic modifiers of cystic fibrosis (CF) lung disease also predispose to congenital bilateral absence of the vas deferens (CBAVD) in association with cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
|
20100616 |
2010 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians.
|
19095672 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
19298730 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study emphasizes the necessity to offer extended CFTR mutation screening and counselling not only to patients with CAVD but also to azoospermic and oligozoospermic men and their partners before undergoing assisted reproduction techniques.
|
20021716 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis.
|
19737283 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study led to the identification of 12 CFTR gene mutations on 48% of 100 Indian CAVD chromosomes.
|
19181743 |
2009 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure.
|
18796364 |
2008 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This case report documents for the first time a male phenotype associated with the p.P841R mutation and underlines the difficulties in counseling a man with congenital bilateral absence of the vas deferens carrying uncommon mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene before ICSI.
|
18703181 |
2008 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A previous screening of the entire coding region of the cystic fibrosis transmembrane conductance regulator gene (CFTR [MIM 602421]) in CBAVD patients identified three novel mutations: P439S is located in the first nucleotide binding domain (NBD1) of CFTR, whereas P1290S and E1401K are located in NBD2.
|
18769034 |
2008 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CFTR gene may be also causative for CBAVD (Congenital Bilateral Absence of the Vas Deferens).
|
17662673 |
2008 |