(Q44980467)

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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

scientific article published on 21 October 2013

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28 February 2020

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? (English)

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28 February 2020

cystic fibrosis

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28 February 2020

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28 February 2020

Sheelagh Martin

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Sheelagh Martin

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28 February 2020

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Annie Dupuis

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28 February 2020

Lynda Ellis

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28 February 2020

Keith Jarvi

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28 February 2020

Peter N Ray

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28 February 2020

Leslie Steele

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28 February 2020

Paul Kortan

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28 February 2020

Tanja Gonska

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28 February 2020

Melinda Solomon

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28 February 2020

Julian Zielenski

12

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28 February 2020

Mary Corey

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28 February 2020

Elizabeth Tullis

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28 February 2020

Peter Durie

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28 February 2020

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21 October 2013

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28 February 2020

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28 February 2020

69

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28 February 2020

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28 February 2020

254-260

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28 February 2020

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Cystic fibrosis: terminology and diagnostic algorithms

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Recommendations for the classification of diseases as CFTR-related disorders

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

The Measurement of Observer Agreement for Categorical Data

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Spirometric reference values from a sample of the general U.S. population

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FTHORAXJNL-2013-203832

21 January 2018

Identifiers

10.1136/THORAXJNL-2013-203832

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24149827%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24149827%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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