Condition: Congenital bilateral aplasia of vas deferens


rs879255539 in ADGRG2;LOC101928415 gene and Congenital bilateral aplasia of vas deferens PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

rs121908752 in CFTR gene and Congenital bilateral aplasia of vas deferens PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 10651488 1998 A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 7539342 1995 Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

PMID 17975025 2007 Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

PMID 16980811 2006 Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.

PMID 23276700 2013 Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

PMID 9521595 1998 Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).

PMID 20021716 2009 Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

PMID 9254864 1997 Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

PMID 15287992 2004 Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

PMID 10200050 1998 Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

PMID 21520337 2011 Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

PMID 20100616 2010 Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

PMID 17413420 2007 Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.

PMID 19810821 2009 To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here.

PMID 9305991 1997 Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

PMID 10875853 2000 Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.

PMID 16196493 2006 Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PMID 10923036 2000 Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

PMID 8829643 1996 A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients.

PMID 9272157 1997 Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

PMID 20059485 2010 Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

PMID 8947061 1996 Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients.

PMID 11491164 2001 Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C.

PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.

PMID 18456578 2008 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

PMID 15371902 2005 Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

PMID 24440181 2014 The relative frequency of CFTR mutation classes in European patients with cystic fibrosis.

PMID 19092437 2008 Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

rs397508225 in CFTR-AS1;CFTR gene and Congenital bilateral aplasia of vas deferens PMID 17329263 2007 Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

PMID 7529962 1995 Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

PMID 10651488 1998 A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online.

PMID 9736778 1998 Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.

PMID 7539342 1995 Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

PMID 9067761 1997 Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).

PMID 7684646 1993 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

PMID 7506096 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background.

PMID 11069835 2000 Lung disease associated with the IVS8 5T allele of the CFTR gene.

PMID 14685937 2004 Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

PMID 1381723 1992 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.

PMID 17314234 2007 Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.

PMID 16263954 2005 Late CF caused by homozygous IVS8-5T CFTR polymorphism.

PMID 16020494 2005 Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.

PMID 7739684 1995 Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

PMID 9435322 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

rs774488954 in LOC101928415;ADGRG2 gene and Congenital bilateral aplasia of vas deferens PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.