Research By Disease – CheckOrphan

Disease: Congenital bilateral aplasia of vas deferens

CFTR gene variants in Indian congenital bilateral absence of vas deferens & its relevance in genetic counselling
SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD)
A case of triple vas deferens complaining of infertility: A challenging case report
A cross-sectional study of the genital duct and renal anomalies in Egyptian cases of congenital absence of the vas deferens
A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens
A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD)
A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review
A rare abnormality of ejaculatory duct opening in the bladder trigone in a 33-year-old male associated with primary infertility: Case report and literature review
A rare case of duplicated vas deferens discovered accidentally during varicocelectomy
A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens
A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population
Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients
Assessing the Disease-Liability of Mutations in CFTR
Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients
Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens
Birth of healthy infant through testicular sperms using conventional in vitro fertilisation technique--a case report
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies
Clinical Consultation Guide on Imaging in Male Infertility and Sexual dysfunction
Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience
Commentary on: A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens
Comorbidity of the congenital absence of the vas deferens
Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree
Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens
Congenital absence of vas deferens and ectopic kidney
Congenital Bilateral Absence of the Vas Deferens
Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes?
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling
Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men
Congenital bilateral absence of vas deferens: From diagnosis to assisted reproductive techniques - the experience of three centers
Correlation between CFTR 5T polymorphisms and the risk of congenital bilateral absence of the vas deferens
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China
Cystic fibrosis being a polyendocrine disease (Review)
Cystic fibrosis or not? Familial occurrence of a rare mutation in the CFTR gene
Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies
Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa
Cystic fibrosis transmembrane regulator mutation and congenital bilateral absence of the vas deferens: a bad combination for successful intracytoplasmic sperm injection outcomes
Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens
Detection of promoter region of CFTR gene in Chinese congenital bilateral absence of vas deferens
Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens
Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples
Diagnostics of CFTR-negative patients with congenital bilateral absence of vas deferens: which mutations are of most interest?
Disease spectrum and treatment patterns in a local male infertility clinic
Epididymal Appearance in Congenital Absence of Vas Deferens
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
External and Genetic Conditions Determining Male Infertility
Function, pharmacological correction and maturation of new Indian CFTR gene mutations
Gene mutations in congenital bilateral absence of the vas deferens: An update
Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens
Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens
Genetic disorders and male infertility
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†
Genetics of the congenital absence of the vas deferens
Genome medicine in male infertility: From karyotyping to single-cell analysis
Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers
Homozygous 5T alleles, clinical presentation and genetic analysis within a family with congenital bilateral absence of the vas deferens
Immunohystochemical analysis of CFTR in normal and disrupted spermatogenesis
Impact of autosomal dominant polycystic kidney disease on the outcomes of intracytoplasmic sperm injection in infertile males
Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series
Incidental finding of a congenital unilateral absence of the vas deferens during robotic inguinal hernia repair: missing a crucial landmark. A case report
Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure
Investigation of racial disparities in semen parameters among white, black, and Asian men
L138ins Variant of the CFTR Gene in Russian Infertile Men
Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis
Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis
Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens
Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients
Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?
p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens)
Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome
Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men
Prevalence of Low Testosterone in Men With Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens: A Cross-sectional Study Using a Large, Multi-institutional Database
Recent advances in the genetics of testicular failure
Relationship of sperm motility with clinical outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection in infertile males with congenital domestic absence of vas deferens: a retrospective study
Revisiting the human seminiferous epithelium cycle
Schistosomiasis (Bilharziasis) ova: An incidental finding in testicular tissue of an obstructive azoospermic man
Scrotal Ultrasonic Features of Congenital Bilateral Absence of Vas Deferens
Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia
SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens
Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens
Testicular Spermatozoa Are of Better Quality Than Epididymal Spermatozoa in Patients With Obstructive Azoospermia
Testing for genetic contributions to infertility: potential clinical impact
The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens
The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens
The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens
The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD)
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
Three cases of Klinefelter's syndrome with unilateral absence of vas deferens
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens
Unilateral absence of vas deferens: prevalence among 23.013 men seeking vasectomy
Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study