Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. (Q34747403)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124743 AND SRC:MED&resulttype=core&format=json

11 November 2019

review article

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title

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124743 AND SRC:MED&resulttype=core&format=json

genotype-phenotype correlation

11 November 2019

main subject

cystic fibrosis

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1

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11 November 2019

Giuseppe Castaldo

series ordinal

3

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11 November 2019

2

Olga Scudiero

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11 November 2019

publication date

1 July 2002

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American Journal of Medical Genetics Part A

11 November 2019

published in

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11 November 2019

volume

111

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11 November 2019

issue

1

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11 November 2019

page(s)

88-95

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

11 November 2019

cites work

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Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung

21 January 2018

1 reference

Pancreatic function and gene deletion F508 in cystic fibrosis

21 January 2018

1 reference

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

21 January 2018

1 reference

Clinical features of cystic fibrosis patients with rare genotypes

21 January 2018

1 reference

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

21 January 2018

1 reference

Mutation analysis in 600 French cystic fibrosis patients

21 January 2018

1 reference

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

21 January 2018

1 reference

A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

21 January 2018

1 reference

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

21 January 2018

1 reference

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

21 January 2018

1 reference

Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation

21 January 2018

1 reference

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

21 January 2018

1 reference

Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations.

21 January 2018

1 reference

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

Serine proteinase inhibitor therapy in alpha(1)-antitrypsin inhibitor deficiency and cystic fibrosis

21 January 2018

1 reference

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study

21 January 2018

1 reference

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

21 January 2018

1 reference

Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study

21 January 2018

1 reference

Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis

21 January 2018

1 reference

The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis

21 January 2018

1 reference

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis

21 January 2018

1 reference

An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis.

21 January 2018

1 reference

Tumor necrosis factor-alpha gene polymorphism in chronic bronchitis

21 January 2018

1 reference

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

21 January 2018

1 reference

Lung disease in mice with cystic fibrosis

21 January 2018

1 reference

Genotype-phenotype correlations in cystic fibrosis

21 January 2018

1 reference

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

Ion composition of airway surface liquid of patients with cystic fibrosis as compared with normal and disease-control subjects

21 January 2018

1 reference

Secondary genetic factors in cystic fibrosis lung disease

21 January 2018

1 reference

Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease

21 January 2018

1 reference

Alpha1-antitrypsin deficiency alleles and the Taq-I G-->A allele in cystic fibrosis lung disease

21 January 2018

1 reference

IgG subclass antibody responses to alginate from Pseudomonas aeruginosa in patients with cystic fibrosis and chronic P. aeruginosa infection

21 January 2018

1 reference

Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of the cystic fibrosis gene: chromosome walking and jumping

21 January 2018

1 reference

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

21 January 2018

1 reference

Pseudomonas aeruginosa pili bind to asialoGM1 which is increased on the surface of cystic fibrosis epithelial cells

21 January 2018

1 reference

Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis

21 January 2018

1 reference

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

21 January 2018

1 reference

Prevalence of liver disease in cystic fibrosis

21 January 2018

1 reference

Production of beta-defensins by human airway epithelia

21 January 2018

1 reference

Cystic fibrosis airway epithelia fail to kill bacteria because of abnormal airway surface fluid.

21 January 2018

1 reference

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

1 reference

In vivo measurements of ion transport in long-living CF mice.

21 January 2018

1 reference

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

21 January 2018

1 reference

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.10461

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12124743 AND SRC:MED&resulttype=core&format=json

11 November 2019

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