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
Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases.
Bhat SY et al.
Nucleic Acids Research, 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
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
Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases.
Bhat S et al.
Biorxiv : the Preprint Server for Biology, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
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
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
Frenţescu L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
Knezević J et al.
Genetic Testing, 2007
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.
Radivojevic D et al.
Genetic Testing, 2004
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Le Maréchal C et al.
Human Genetics, 2001
The incidence of cystic fibrosis (CF) mutations among patients from Croatia.
Tanacković G et al.
Clinical Genetics, 2000
Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.
Vouk K et al.
Pflugers Archiv : European Journal of Physiology, 2000
Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra.
Vouk K et al.
Pflugers Archiv : European Journal of Physiology, 2000
Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients.
Audrézet MP et al.
Human Genetics, 1994
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.
Ravnik-Glavac M et al.
Human Mutation, 1993
[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling].
Parent P et al.
Journal De Genetique Humaine, 1989