High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508 Source: Eur Respir J 2001; 17: 1181-1186 Year: 2001
Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient Source: Eur Respir J 2002; 19: 374-376 Year: 2002
Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis Source: Eur Respir Rev 2013; 22: 58-65 Year: 2013
A novel CFTR mutation found in a Chinese cystic fibrosis patient Source: Eur Respir J 2005; 26: Suppl. 49, 402s Year: 2005
Atypical cystic fibrosis Source: ISSN=ISSN 1025-448x, ISBN=ISBN 1-904097-46-6, page=38 Year: 2006
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
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
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation Source: Eur Respir Rev 2013; 22: 66-71 Year: 2013
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
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis Source: Eur Respir J 2011; 37: 59-69 Year: 2011
Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) Source: Breathe, 17 (3) 210088; 10.1183/20734735.0088-2021 Year: 2021
Genotype-phenotype correlation in cystic fibrosis patients bearing a novel complex allele Source: Annual Congress 2011 - Cystic fibrosis: clinical and laboratory studies Year: 2011
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C Source: Eur Respir J 2001; 17: 1195-1200 Year: 2001
First identified “severe” mutations and extended rearrangements in the CFTR gene in Russian cystic fibrosis patients Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020
p.Leu206Trp mutation: Genotype-phenotype correlation in 23 paediatric / adults cystic fibrosis (CF) patients Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children 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
CFTR: cystic fibrosis and beyond Source: Eur Respir J 2014; 44: 1042-1054 Year: 2014
The impact of genotype on clinical course of cystic fibrosis (CF) in adult patients Source: Annual Congress 2013 –Cystic fibrosis: clinical problems and microbiology in adults Year: 2013