Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis Source: Eur Respir J 2011; 37: 59-69 Year: 2011
Ataluren in nonsense mutation cystic fibrosis patients not receiving chronic inhaled tobramycin: Evaluation of exacerbations and lung function Source: International Congress 2016 – Cystic fibrosis: inflammation, microbiology, management and monitoring Year: 2016
In vitro assessment of triple combination therapy for the most common disease-associated mutation in cystic fibrosisSource: Eur Respir J, 59 (2) 2102380; 10.1183/13993003.02380-2021 Year: 2022
Potentiating and correcting mutant CFTR in patients with cystic fibrosis Source: Eur Respir Monogr 2014; 64: 129-149 Year: 2014
High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508 Source: Eur Respir J 2001; 17: 1181-1186 Year: 2001
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation Source: Eur Respir Rev 2013; 22: 66-71 Year: 2013
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
A novel CFTR mutation found in a Chinese cystic fibrosis patient Source: Eur Respir J 2005; 26: Suppl. 49, 402s Year: 2005
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
Lung function, weight, and sweat chloride responses in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor: A secondary analysis Source: Annual Congress 2013 –Cystic fibrosis: lung function and change of lung function in infants and children before and after treatment Year: 2013
Possible mechanisms of action of azithromycin in cystic fibrosis Source: Annual Congress 2005 - Cystic fibrosis lung disease: pieces of the puzzle Year: 2005
Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis Source: Eur Respir Rev 2013; 22: 58-65 Year: 2013
Sputum and plasma adiponectin levels in clinically stable adult cystic fibrosis patients with CFTR I1234V mutation Source: International Congress 2018 – Cystic fibrosis in adults: current research Year: 2018
CFTR gene mutations detected in Japanese individuals with cystic fibrosis Source: Eur Respir J 2006; 28: Suppl. 50, 716s Year: 2006
Identification of a new cystic fibrosis transmembrane regulator mutation in a severely affected patient Source: Eur Respir J 2002; 19: 374-376 Year: 2002
First identified “severe” mutations and extended rearrangements in the CFTR gene in Russian cystic fibrosis patients Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020
Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease Source: Eur Respir J 2009; 34: 772 Year: 2009
Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles Source: ERJ Open Res, 5 (2) 00082-2019; 10.1183/23120541.00082-2019 Year: 2019
A borderline, or negative sweat test, leads to a diagnostic delay in hypertrypsinaemic cystic fibrosis (CF) infants with mild CFTR mutations Source: Eur Respir J 2001; 18: Suppl. 33, 124s Year: 2001