Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
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
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
Quantification of major urinary metabolites of PGE2 and PGD2 in cystic fibrosis: correlation with disease severity.
Jabr S et al.
Prostaglandins, Leukotrienes, and Essential Fatty Acids, 2013
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
El-Seedy A et al.
Human Mutation, 2012
Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.
Mornon JP et al.
Cellular and Molecular Life Sciences : Cmls, 2008
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
Patuzzo C et al.
European Journal of Human Genetics : Ejhg, 2003
Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.
Durno C et al.
Gastroenterology, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Bombieri C et al.
Human Genetics, 1998
Characterization of mutations located in exon 18 of the CFTR gene.
Vankeerberghen A et al.
Febs Letters, 1998
Genetic risk factors for chronic obstructive pulmonary disease.
Sandford AJ et al.
The European Respiratory Journal, 1997
CFTR gene variant IVS8-5T in disseminated bronchiectasis.
Pignatti PF et al.
American Journal of Human Genetics, 1996
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Pignatti PF et al.
Human Molecular Genetics, 1995