Genetics of the congenital absence of the vas deferens (Q89563506)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

review article

1 reference

title

Genetics of the congenital absence of the vas deferens (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

author name string

Safouane M Hamdi

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

Roger Mieusset

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

publication date

5 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

6 April 2020

cites work

1 reference

12 December 2020

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

1 reference

12 December 2020

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

1 reference

12 December 2020

Unilateral absence of the vas deferens. A useful clinical sign

1 reference

12 December 2020

Men with congenital absence of the vas deferens often have seminal vesicles

1 reference

12 December 2020

The development and differentiation of human seminal vesicles

1 reference

12 December 2020

Congenital absence of the vasa deferentia presenting with infertility

1 reference

12 December 2020

The vas deferens in cystic fibrosis

1 reference

12 December 2020

Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system

1 reference

12 December 2020

Guest editorial--fertility and the young adult with cystic fibrosis

1 reference

12 December 2020

Reproductive Failure in Males with Cystic Fibrosis

1 reference

12 December 2020

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

1 reference

12 December 2020

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

1 reference

12 December 2020

Urogenital anomalies in men with congenital absence of the vas deferens

1 reference

12 December 2020

Congenital absence of the vas deferens: a mild form of cystic fibrosis

1 reference

12 December 2020

Cloning of a human epididymis-specific mRNA, HE6, encoding a novel member of the seven transmembrane-domain receptor superfamily

1 reference

12 December 2020

Normal vas deferens in fetuses with cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical findings in congenital absence of the vasa deferentia

1 reference

12 December 2020

Protein kinase A associates with cystic fibrosis transmembrane conductance regulator via an interaction with ezrin

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

12 December 2020

Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling

1 reference

12 December 2020

Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations

1 reference

12 December 2020

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

1 reference

12 December 2020

HE6, a two-subunit heptahelical receptor associated with apical membranes of efferent and epididymal duct epithelia

1 reference

12 December 2020

Clinical and genetic features of patients with congenital unilateral absence of the vas deferens

1 reference

12 December 2020

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

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

Targeted deletion of the epididymal receptor HE6 results in fluid dysregulation and male infertility

1 reference

12 December 2020

Congenital absence of the vas deferens; a review of the literature and report of three cases.

1 reference

12 December 2020

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

1 reference

12 December 2020

Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system

1 reference

12 December 2020

Unilateral renal agenesis and the congenital solitary functioning kidney: developmental, genetic and clinical perspectives

1 reference

12 December 2020

The congenital and acquired solitary kidney.

1 reference

12 December 2020

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

1 reference

12 December 2020

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

1 reference

12 December 2020

Expression of ion transport-associated proteins in human efferent and epididymal ducts

1 reference

12 December 2020

Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype

1 reference

12 December 2020

Role of NHERF1, cystic fibrosis transmembrane conductance regulator, and cAMP in the regulation of aquaporin 9.

1 reference

12 December 2020

The prevalence of cystic fibrosis in the European Union

1 reference

12 December 2020

HE6/GPR64 adhesion receptor co-localizes with apical and subapical F-actin scaffold in male excurrent duct epithelia

1 reference

12 December 2020

Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

The role of the NHERF family of PDZ scaffolding proteins in the regulation of salt and water transport

1 reference

12 December 2020

CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis

1 reference

12 December 2020

Male infertility: pathogenesis and clinical diagnosis

1 reference

12 December 2020

Swine models of cystic fibrosis reveal male reproductive tract phenotype at birth

1 reference

12 December 2020

Recommendations for the classification of diseases as CFTR-related disorders

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development

1 reference

12 December 2020

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis

1 reference

12 December 2020

Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia

1 reference

12 December 2020

Cytoskeleton and CFTR.

1 reference

12 December 2020

Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure

1 reference

12 December 2020

CFTR interacts with ZO-1 to regulate tight junction assembly and epithelial differentiation through the ZONAB pathway.

1 reference

12 December 2020

International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors

1 reference

12 December 2020

Identification of the tethered peptide agonist of the adhesion G protein-coupled receptor GPR64/ADGRG2.

1 reference

12 December 2020

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens

1 reference

12 December 2020

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

1 reference

12 December 2020

Regulation of epithelial function, differentiation, and remodeling in the epididymis

1 reference

12 December 2020

Expression profiles of human epididymis epithelial cells reveal the functional diversity of caput, corpus and cauda regions

1 reference

12 December 2020

The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling.

1 reference

12 December 2020

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis

1 reference

12 December 2020

Is the Epididymis a Series of Organs Placed Side By Side?

1 reference

12 December 2020

The human epididymis: its function in sperm maturation

1 reference

12 December 2020

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.

1 reference

12 December 2020

Unilateral absence of vas deferens: prevalence among 23.013 men seeking vasectomy

1 reference

12 December 2020

Orphan Adhesion GPCR GPR64/ADGRG2 Is Overexpressed in Parathyroid Tumors and Attenuates Calcium-Sensing Receptor-Mediated Signaling

1 reference

12 December 2020

Descent of mesonephric duct to the final position of the vas deferens in human embryo and fetus.

1 reference

12 December 2020

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

1 reference

12 December 2020

Activation of Adhesion G Protein-coupled Receptors: AGONIST SPECIFICITY OF STACHEL SEQUENCE-DERIVED PEPTIDES.

1 reference

12 December 2020

Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice

1 reference

12 December 2020

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

1 reference

12 December 2020

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries

1 reference

12 December 2020

Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population

1 reference

12 December 2020

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

1 reference

12 December 2020

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling

1 reference

12 December 2020

Gq activity- and β-arrestin-1 scaffolding-mediated ADGRG2/CFTR coupling are required for male fertility.

1 reference

12 December 2020

Comorbidity of the congenital absence of the vas deferens

1 reference

12 December 2020

XRCC2 mutation causes meiotic arrest, azoospermia and infertility

1 reference

12 December 2020

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

1 reference

12 December 2020

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family

1 reference

12 December 2020

Non-obstructive vas deferens and epididymis loss in cystic fibrosis rats

1 reference

12 December 2020

Myocardial NADPH oxidase-4 regulates the physiological response to acute exercise

1 reference

12 December 2020

SCNN1B and CA12 play vital roles in occurrence of congenital bilateral absence of vas deferens (CBAVD)

1 reference

12 December 2020

The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD)

1 reference

12 December 2020

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles

1 reference

12 December 2020

SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens

1 reference

12 December 2020

Genetic defects in human azoospermia

1 reference

12 December 2020

Developmental pathology of congenital kidney and urinary tract anomalies.

1 reference

12 December 2020

A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD)

1 reference

12 December 2020

Bilevel Positive Airway Pressure ventilation efficiently improves respiratory distress in initial hours treating children with severe asthma exacerbation

1 reference

12 December 2020

Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens

1 reference

12 December 2020

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic

1 reference

12 December 2020

10.1007/S00439-020-02122-W

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32025909%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

1 reference