Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Metabolomic profiling of saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Structural changes in lung morphology detected by MRI after modulating therapy with elexacaftor/tezacaftor/ivacaftor in adolescent and adult patients with cystic fibrosis.
Fainardi V et al.
Respiratory Medicine, 2023
Lipidomic alterations in human saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2023
Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment.
Carnovale V et al.
Journal of Clinical Medicine, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Lumacaftor/ivacaftor improves liver cholesterol metabolism but does not influence hypocholesterolemia in patients with cystic fibrosis.
Gelzo M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Zinc Nutritional Status in Patients with Cystic Fibrosis.
Escobedo Monge MF et al.
Nutrients, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.
Lewis C et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
Ramos MD et al.
Clinical Genetics, 2014
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Alonso MJ et al.
Annals of Human Genetics, 2007
Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the DeltaF508 mutation.
Goossens V et al.
Molecular Human Reproduction, 2003
Increased functional cell surface expression of CFTR and DeltaF508-CFTR by the anthracycline doxorubicin.
Maitra R et al.
American Journal of Physiology. Cell Physiology, 2001
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Casals T et al.
Human Genetics, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996
Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype.
Carnovale V et al.
Respiratory Medicine, 0