(Q42106979)

16 October 2017

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis (English)

1 reference

16 October 2017

0 references

Joshua D Groman

1

1 reference

16 October 2017

Barbara Karczeski

2

1 reference

16 October 2017

Molly Sheridan

3

1 reference

16 October 2017

Terry E Robinson

4

1 reference

16 October 2017

M Daniele Fallin

5

1 reference

16 October 2017

Garry R Cutting

6

1 reference

16 October 2017

language of work or name

English

0 references

publication date

1 May 2005

1 reference

The Journal of Pediatrics

16 October 2017

1 reference

16 October 2017

146

1 reference

16 October 2017

5

1 reference

16 October 2017

675-680

1 reference

Nonclassic cystic fibrosis and CFTR-related diseases

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Mutations in SBDS are associated with Shwachman-Diamond syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Atypical cystic fibrosis--diagnostic and management dilemmas.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Nasal potential difference measurements in patients with atypical cystic fibrosis

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Considerations for a multiaxis nomenclature system for medical genetics

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Comprehensive mutation screening in a cystic fibrosis center.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380804

Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements

17 August 2018

1 reference

12 December 2020

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test

1 reference

12 December 2020

Nonclassic cystic fibrosis: a clinical conundrum

1 reference

12 December 2020

What is cystic fibrosis?

1 reference

12 December 2020

Time to think again: cystic fibrosis is not an "all or none" disease

1 reference

12 December 2020

10.1016/J.JPEDS.2004.12.020

Identifiers

DOI

1 reference

16 October 2017

1 reference

16 October 2017

PubMed publication ID

15870673

1 reference