Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials (Q43173791)

15 November 2017

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

1 reference

15 November 2017

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transmembrane protein

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7

Sheelagh Martin

1 reference

15 November 2017

Michael Wilschanski

1

1 reference

15 November 2017

Annie Dupuis

2

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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

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15 November 2017

Lap-Chee Tsui

9

1 reference

15 November 2017

Peter Durie

10

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15 November 2017

language of work or name

English

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publication date

13 July 2006

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American Journal of Respiratory and Critical Care Medicine

15 November 2017

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15 November 2017

174

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15 November 2017

7

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15 November 2017

787-794

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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

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15 November 2017

1 reference