|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
|
1381723 |
1992 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We postulate that mutations in the promoter region or at other regulatory sites of the CFTR gene may be responsible for the CBAVD phenotype in a proportion of cases.
|
7505692 |
1993 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
|
7506096 |
1993 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
GeneticVariation
|
disease |
CLINVAR |
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 |
GeneticVariation
|
disease |
BEFREE |
Thirty individuals with CBAVD and 10 with congenital unilateral absence of the vas deferens (CUAVD) were analyzed by single-strand conformation analysis and denaturing gradient gel electrophoresis for mutations in most of the CFTR gene.
|
7532150 |
1995 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
|
7539342 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
BEFREE |
Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
|
7539342 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) in some patients arises from mutations within the cystic fibrosis (CF) transmembrane regulator (CFTR) gene.
|
7551394 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
|
7684646 |
1993 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
|
7739684 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD: The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men.
|
7739684 |
1995 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
BEFREE |
This increased frequency of CF mutations in healthy men with reduced sperm quality and in men with azoospermia without CBAVD suggests that the CFTR protein may be involved in the process of spermatogenesis or sperm maturation apart from playing a critical role in the development of the epididymal glands and the vas deferens.
|
8671256 |
1996 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
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 bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.
|
8829643 |
1996 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.
|
8947061 |
1996 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
|
9067761 |
1997 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The relationship between cystic fibrosis (CF) and CBAVD requires a proper clinical examination of the patient, a CFTR mutation analysis for himself and his family and genetic counselling.
|
9147111 |
1996 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
Biomarker
|
disease |
BEFREE |
Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.
|
9150843 |
1997 |
|
Congenital bilateral aplasia of vas deferens
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the 5T allele was performed on 148 subjects (29 with CF, 61 with atypical CF, and 58 with CBAVD) carrying 232 chromosomes with unidentified CFTR mutations, and on 142 non-CF chromosomes from healthy subjects of Ashkenazi origin.
|
9196095 |
1997 |