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
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
Real-Life Experience with CFTR Modulators Shows Correction of LAD-IV Phenotype in Cystic Fibrosis.
Montresor A et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France.
Kumar M et al.
Pediatric Pulmonology, 2024
Update on advances in cystic fibrosis towards a cure and implications for primary care clinicians.
Terlizzi V et al.
Current Problems in Pediatric and Adolescent Health Care, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.
Terlizzi V et al.
European Journal of Pediatrics, 2023
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
Lefferts JW et al.
International Journal of Molecular Sciences, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.
de Poel E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis.
Stahl M et al.
American Journal of Respiratory and Critical Care Medicine, 2021
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK et al.
Orphanet Journal of Rare Diseases, 2021
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Ivacaftor improves lung disease in patients with advanced CF carrying CFTR mutations that confer residual function.
Salvatore D et al.
Respiratory Medicine, 2020
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair G et al.
International Journal of Neonatal Screening, 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 mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
A case-control study on pregnancy in Italian Cystic Fibrosis women. Data from the Italian Registry.
Giordani B et al.
Respiratory Medicine, 2018
CFTR-dependent chloride efflux in cystic fibrosis mononuclear cells is increased by ivacaftor therapy.
Guerra L et al.
Pediatric Pulmonology, 2017
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
Comparison of Lung Clearance Index and Magnetic Resonance Imaging for Assessment of Lung Disease in Children with Cystic Fibrosis.
Stahl M et al.
American Journal of Respiratory and Critical Care Medicine, 2017
Insulin secretion abnormalities in patients with cystic fibrosis.
Schnyder MA et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
HMGB1 Is Increased by CFTR Loss of Function, Is Lowered by Insulin, and Increases In Vivo at Onset of CFRD.
Montanini L et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Mutation spectrum of Egyptian children with cystic fibrosis.
Shahin WA et al.
Springerplus, 2016
Clinical expression of patients with the D1152H CFTR mutation.
Terlizzi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2015
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Dell'Edera D et al.
Journal of Medical Case Reports, 2014
Electrophysiological evaluation of cystic fibrosis conductance transmembrane regulator (CFTR) expression in human monocytes.
Ettorre M et al.
Biochimica Et Biophysica Acta, 2014
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS et al.
Expert Review of Molecular Diagnostics, 2014
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Pseudo-Bartter's syndrome revealing cystic fibrosis in an infant caused by 3849 + 1G>A and 4382delA compound heterozygosity.
Nahida el-R et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.
Polizzi A et al.
Genetics and Molecular Biology, 2011
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
Coiana A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.
Giuliani R et al.
Asian Journal of Andrology, 2010
ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
Viel M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Prenatal screening of Cystic Fibrosis: a single centre experience.
Bizzoco D et al.
Journal of Prenatal Medicine, 2008
Highly preferential association of NonF508del CF mutations with the M470 allele.
Ciminelli BM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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