|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding was lower than the published frequency of CFTR mutations in other ethnic CBAVD patients (ranging from 50 to 74%).
|
15905293 |
2005 |
|
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 |
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels.
|
10762539 |
2000 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In monosymptomatic forms of cystic fibrosis such as congenital bilateral absence of vas deferens, variations in the TG(m) and T(n) polymorphic repeats at the 3' end of intron 8 of the cystic fibrosis transmembrane regulator (CFTR) gene are associated with the alternative splicing of exon 9, which results in a nonfunctional CFTR protein.
|
10766763 |
2000 |
|
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 |
Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene.
|
10875853 |
2000 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cases 1, 2 and 3 presented with CBAVD after which CFTR screening by mutation panel analysis was negative.
|
31672438 |
2019 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
|
16196493 |
2006 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
|
15580565 |
2005 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
RGD |
Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats.
|
24608905 |
2014 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel CFTR gene mutation in a patient with CBAVD.
|
17398169 |
2007 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
|
7539342 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile.
|
7529962 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
CTD_human |
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
|
10875853 |
2000 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.
|
23378603 |
2013 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A polyvariant mutant CFTR gene is the most frequent CBAVD causing mutant CFTR gene.
|
15379964 |
2004 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population.
|
9678705 |
1998 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify CFTR promoter region mutations in Chinese CBAVD patients, fragments 1.4 kb upstream of the ATG start codon of the CFTR gene were sequenced in 66 Chinese patients with CBAVD and compared to the corresponding sequences from 60 healthy subjects and sequence data present in the NCBI database.
|
29864494 |
2018 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.
|
30811104 |
2019 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Their fertile brothers inherited the same CFTR alleles as their brothers with CBAVD.
|
7539210 |
1995 |
|
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 |
We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype.
|
10386624 |
1999 |
|
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 |
Genetic testing of the cystic fibrosis transmembrane conductance (CFTR) gene is currently performed in couples undergoing assisted reproduction techniques (ART), because of the high prevalence of healthy carriers in the population and the pathogenic relationship with congenital bilateral absence of vas deferens (CBAVD).
|
15870824 |
2005 |