Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the routine clinical workup of infertile men, patients with an absence of vas deferens are screened for CFTR variants.
|
31672438 |
2019 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens.
|
31709488 |
2019 |
Congenital absence of vas deferens
|
0.200 |
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 absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.
|
26277102 |
2015 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two studies have reported on the frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Indian males with congenital absence of the vas deferens (CAVD), however, data on the spectrum of CFTR gene mutations are still lacking.
|
24958810 |
2014 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.
|
22103471 |
2012 |
Congenital absence of vas deferens
|
0.200 |
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 absence of vas deferens
|
0.200 |
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 absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens.
|
19181743 |
2009 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Extended CFTR mutation screening was performed in 310 infertile men (25 with congenital absence of the vas deferens (CAVD), 116 with non-CAVD azoospermia, 169 with severe oligospermia), 70 female partners and 96 healthy controls.
|
20021716 |
2009 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present screening strategy allowed a higher mutation detection rate than previous studies, with at least one cystic fibrosis transmembrane conductance regulator gene mutation found in all patients with congenital absence of the vas deferens.
|
17413420 |
2007 |
Congenital absence of vas deferens
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations of CFTR gene are responsible for cystic fibrosis (CF) and other clinical conditions such as congenital absence of the vas deferens (CAVD), chronic pancreatitis (IP), and idiopathic disseminated bronchiectasis (DBE) classified as CFTR-related disorders.
|
16379540 |
2005 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis conductance transmembrane regulator (CFTR) gene mutations and IVS8 poly(T) variants in Portuguese patients with bilateral (CBAVD) and unilateral (CUAVD) congenital absence of the vas deferens remain to be evaluated.
|
15333598 |
2004 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CFTR gene mutations were commonly seen in men with congenital absence of the vas deferens, but also in 16% of men with azoospermia without any apparent abnormality of the vas deferens.
|
11756355 |
2002 |
Congenital absence of vas deferens
|
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 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To provide better insight into the relationship among the expression behavior in vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia or severe oligozoospermia.
|
11466205 |
2001 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
|
10875853 |
2000 |
Congenital absence of vas deferens
|
0.200 |
Biomarker
|
disease |
BEFREE |
Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility.
|
11101688 |
2000 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
|
10923036 |
2000 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A total of 90 patients were screened for a panel of 10 mutations in the CFTR gene frequently involved in congenital absence of the vas deferens (CAVD); the patients included 14 with azoospermia and CAVD, 39 patients with azoospermia without CAVD (n = 39) and 37 patients with severe oligozoospermia.
|
10341008 |
1999 |
Congenital absence of vas deferens
|
0.200 |
Biomarker
|
disease |
BEFREE |
The majority of men with congenital absence of the vas deferens have a defect in both copies of the CFTR gene and therefore represent a distinct phenotypic form of cystic fibrosis.
|
8796848 |
1996 |
Congenital absence of vas deferens
|
0.200 |
Biomarker
|
disease |
BEFREE |
CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies.
|
8627844 |
1996 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The presence of detectable CFTR mutations does not affect fertilization rates or PRs for men with bilateral congenital absence of the vas deferens when IVF and micromanipulation are applied.
|
7542209 |
1995 |
Congenital absence of vas deferens
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An unexpected finding, however, is the documentation of CFTR mutations in patients with atypical CF disease presentations, including congenital absence of vas deferens and several pulmonary diseases.
|
8825494 |
1995 |
Congenital absence of vas deferens
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|