Associated Papers
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.
Chandane P et al.
Lung India : Official Organ of Indian Chest Society, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.
Al Oraimi S et al.
Oman Medical Journal, 2022
Spectrum of Cystic Fibrosis Conductance Regulator Gene Mutations Reported in Pakistani Descent Cystic Fibrosis Patients.
Majid H et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2022
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Bulegenova M et al.
Indian Pediatrics, 2022
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D et al.
Respirology (carlton, Vic.), 2019
Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study.
Rosenfeld M et al.
The Lancet. Respiratory Medicine, 2018
Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.
Fass UW et al.
Sultan Qaboos University Medical Journal, 2014
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Atypical cystic fibrosis and CFTR-related diseases.
Paranjape SM et al.
Clinical Reviews in Allergy & Immunology, 2008
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.
Mei-Zahav M et al.
Archives of Disease in Childhood, 2005