(Q43173791)

15 November 2017

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials (English)

1 reference

15 November 2017

0 references

transmembrane protein

0 references

7

Sheelagh Martin

1 reference

15 November 2017

Michael Wilschanski

1

1 reference

15 November 2017

Annie Dupuis

2

1 reference

15 November 2017

Lynda Ellis

3

1 reference

15 November 2017

Keith Jarvi

4

1 reference

15 November 2017

Julian Zielenski

5

1 reference

15 November 2017

Elizabeth Tullis

6

1 reference

15 November 2017

Mary Corey

8

1 reference

15 November 2017

Lap-Chee Tsui

9

1 reference

15 November 2017

Peter Durie

10

1 reference

15 November 2017

language of work or name

English

0 references

publication date

13 July 2006

1 reference

American Journal of Respiratory and Critical Care Medicine

15 November 2017

1 reference

15 November 2017

174

1 reference

15 November 2017

7

1 reference

15 November 2017

787-794

1 reference

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

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Genotype and phenotype in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

CFTR gene variant for patients with congenital absence of vas deferens

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

CFTR as a cAMP-dependent regulator of sodium channels

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Genetic determination of exocrine pancreatic function in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

The spectrum of cystic fibrosis mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Airway inflammation and infection in congenital bilateral absence of the vas deferens

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Functional and molecular evidence for Na(+)-HCO cotransporter in porcine vas deferens epithelia

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.

15 August 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200509-1377OC

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200509-1377OC

CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200509-1377OC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200509-1377OC

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1164%2FRCCM.200509-1377OC

Reproductive Failure in Males with Cystic Fibrosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2648063

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

1 December 2018

1 reference

12 December 2020

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

1 reference

12 December 2020

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens

1 reference

12 December 2020

Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.

1 reference

12 December 2020

Nasal potential difference in congenital bilateral absence of the vas deferens

1 reference

12 December 2020

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

1 reference

12 December 2020

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

1 reference

12 December 2020

Cystic fibrosis gene mutations and infertile men with primary testicular failure

1 reference

12 December 2020

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

1 reference

12 December 2020

CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel

1 reference

12 December 2020

The vas deferens in cystic fibrosis

1 reference

12 December 2020

Abnormality of the epididymis and vas deferens in cystic fibrosis

1 reference

12 December 2020

Fertility in Males with Cystic Fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

12 December 2020

10.1164/RCCM.200509-1377OC

Identifiers

DOI

1 reference

15 November 2017

1 reference

15 November 2017

PubMed publication ID

16840743

1 reference