Associated Papers
Rethinking CFTR variant responsiveness: Differential responses to vanzacaftor and elexacaftor.
Rodriguez Mier N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
The response of rare CFTR mutations to specific modulator combinations.
Stanleigh N et al.
Erj Open 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
Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State.
Arpini LDSB et al.
Pediatric Pulmonology, 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
CFTR Folding: From Structure and Proteostasis to Cystic Fibrosis Personalized Medicine.
McDonald EF et al.
Acs Chemical Biology, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Personalized medicine: Function of CFTR variant p.Arg334Trp is rescued by currently available CFTR modulators.
Railean V et al.
Frontiers in Molecular Biosciences, 2023
Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.
Ramalho SS et al.
International Journal of Molecular Sciences, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.
Cambraia A et al.
Disease Markers, 2021
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).
Rosa J et al.
Bmc Pediatrics, 2020
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
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Pereira SV et al.
Scientific Reports, 2019
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
Mota LR et al.
Molecular Biology Reports, 2018
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Marcão A et al.
International Journal of Neonatal Screening, 2018
Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low-income region in Northeastern Brazil.
Mota LR et al.
Pediatric Pulmonology, 2018
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic Medicine, 2017
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.
Essawi O et al.
Disease Markers, 2015
Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.
Siryani I et al.
Plos One, 2015
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Alonso MJ et al.
Annals of Human Genetics, 2007
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
Kammesheidt A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Alper OM et al.
Human Mutation, 2004
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Wong LJ et al.
Electrophoresis, 2004
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
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
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Chillón M et al.
Human Genetics, 1994
Spectrum of CFTR gene sequence variants in a northern Portugal population.
Grangeia A et al.
Pulmonology, 0