(Q35537817)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Genotype-phenotype correlation for pulmonary function in cystic fibrosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

13 January 2020

main subject

cystic fibrosis

0 references

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Montserrat Vendrell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

David de la Rosa Carrillo

13 January 2020

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Mata F

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Alvarez A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Casals T

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Gatner S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Guarner L

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Hermosilla E

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

language of work or name

English

0 references

publication date

1 July 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

page(s)

558-563

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions

13 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

The phenotypic consequences of CFTR mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

An overview of the pathogenesis of cystic fibrosis lung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Molecular structure and physiological function of chloride channels

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Genotype-phenotype correlations in cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Cystic fibrosis in adults: study of 111 patients

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747467

Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients

26 September 2018

1 reference

12 December 2020

Prediction of Mortality in Patients with Cystic Fibrosis

1 reference

12 December 2020

A Cystic Fibrosis Mutation Associated with Mild Lung Disease

1 reference

12 December 2020

3849+10 kb C-->T mutation and disease severity in cystic fibrosis

1 reference

12 December 2020

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

1 reference

12 December 2020

Genotype and phenotype in cystic fibrosis

1 reference

12 December 2020

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

1 reference

12 December 2020

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype

1 reference

12 December 2020

[Cystic fibrosis in the adult]

1 reference

12 December 2020

Identifiers

DOI

10.1136/THX.2004.031153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15994263%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference