Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation Source: Eur Respir Rev 2013; 22: 66-71 Year: 2013
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
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
Examining the effects of the Gly551Asp mutation on CT outcomes in children with cystic fibrosis Source: International Congress 2017 – Cystic fibrosis: treatments and monitoring Year: 2017
Exercise improvements in ivacaftor treated G551D cystic fibrosis patients are not solely related to FEV1 and sweat changes Source: International Congress 2015 – Cystic fibrosis: physiology, biomarkers, microbiology and miscellaneous Year: 2015
Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis Source: Eur Respir Rev 2013; 22: 58-65 Year: 2013
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
High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508 Source: Eur Respir J 2001; 17: 1181-1186 Year: 2001
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
A novel CFTR mutation found in a Chinese cystic fibrosis patient Source: Eur Respir J 2005; 26: Suppl. 49, 402s Year: 2005
Respiratory microbiology outcomes from an observational study of ivacaftor in people with cystic fibrosis and non-G551D gating mutations (VOCAL) Source: Virtual Congress 2021 – Clinical effects of CFTR modulatory therapy and lung inflammation in children with cystic fibrosis Year: 2021
Potentiating and correcting mutant CFTR in patients with cystic fibrosis Source: Eur Respir Monogr 2014; 64: 129-149 Year: 2014
Impact of CFTR modulator use on outcomes in people with severe cystic fibrosis lung disease Source: Eur Respir Rev, 29 (155) 190112; 10.1183/16000617.0112-2019 Year: 2020
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis Source: Eur Respir J 2011; 37: 59-69 Year: 2011
Long-term outcomes and clinical worsening in cystic fibrosis patients with at least one residual function mutation Source: International Congress 2018 – Cystic fibrosis in adults: current research Year: 2018
Should the D1152H variant be included in cystic fibrosis newborn screening programmes? Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020
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
The treatment burden of cystic fibrosis: a day-to-day experience with treatment as someone with cystic fibrosis Source: Breathe, 17 (1) 210013; 10.1183/20734735.0013-2021 Year: 2021
Targeting CFTR as a therapy for cystic fibrosis Source: Lung Science Conference 2010 - Biology of gene-environment interactions in the lung Year: 2010