Genotypic diversity of Pseudomonas aeruginosa in cystic fibrosis patients with the CFTR I1234V mutation in a large kindred family Source: Annual Congress 2012 - Cystic fibrosis (adults and children): risk factors and clinical problems Year: 2012
Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients Source: Eur Respir J 2004; 23: 679-684 Year: 2004
Phenotypic characteristics in adult cystic fibrosis (CF) patients carrying 3849+10kbC>T mutation in Russia Source: International Congress 2015 – Cystic fibrosis: microbiology, immunology and assessment Year: 2015
CFTR gene mutations detected in Japanese individuals with cystic fibrosis Source: Eur Respir J 2006; 28: Suppl. 50, 716s Year: 2006
Distinctive CFTR gene mutations found in Japanese individuals with cystic fibrosis Source: Annual Congress 2004 - Cystic fibrosis in the 21st century: cutting edge investigations, taxing problems Year: 2004
Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population Source: Eur Respir J, 56 (3) 2000558; 10.1183/13993003.00558-2020 Year: 2020
A novel CFTR mutation found in a Chinese cystic fibrosis patient Source: Eur Respir J 2005; 26: Suppl. 49, 402s Year: 2005
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation Source: Eur Respir Rev 2013; 22: 66-71 Year: 2013
Analysis of CFTR gene mutations in 24 Japanese individuals with cystic fibrosis Source: Annual Congress 2010 - Cystic fibrosis: lung disease infection and more Year: 2010
First identified “severe” mutations and extended rearrangements in the CFTR gene in Russian cystic fibrosis patients Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020
High frequency of CFTR R75Q variant and mEPHX „slow" allele in COPD patients Source: Eur Respir J 2005; 26: Suppl. 49, 343s Year: 2005
The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype Source: Eur Respir J 2005; 25: 468-473 Year: 2005
First heterozygous NOP10 mutation in familial pulmonary fibrosis Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019 Year: 2020
Cystic Fibrosis: Clinical profile of 10 patients with R334W mutation compared to ?F508 homozigoty Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020
High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508 Source: Eur Respir J 2001; 17: 1181-1186 Year: 2001
Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the ΔF508 mutation Source: Annual Congress 2003 - Cystic fibrosis: new genes, new controversies Year: 2003
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis Source: Eur Respir J 2011; 37: 59-69 Year: 2011
Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations. Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis Year: 2021
Single nucleotide polymorphims 1540G/A, 2694T/G and 4521G/A of CFTR gene and their association with cystic fibrosis phenotype Source: International Congress 2014 – Cystic fibrosis: genotypes, inflammation and microbiology Year: 2014