Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 2025
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
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis.
Terlizzi V et al.
Pediatric Pulmonology, 2021
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
CFTR Rescue in Intestinal Organoids with GLPG/ABBV-2737, ABBV/GLPG-2222 and ABBV/GLPG-2451 Triple Therapy.
de Poel E et al.
Frontiers in Molecular Biosciences, 2021
Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.
Chu Y et al.
Evidence-based Complementary and Alternative Medicine : Ecam, 2021
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
Terlizzi V et al.
Diagnostics (basel, Switzerland), 2020
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo A et al.
Diagnostics (basel, Switzerland), 2020
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Liu K et al.
Orphanet Journal of Rare Diseases, 2020
A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.
Villella VR et al.
The Embo Journal, 2019
Identification of molecular signatures of cystic fibrosis disease status with plasma-based functional genomics.
Levy H et al.
Physiological Genomics, 2019
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
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
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
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders.
Giordano S et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene.
Lucarelli M et al.
Analytical Biochemistry, 2006
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.
Castaldo G et al.
Annals of Human Genetics, 2005
A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy.
Castaldo G et al.
Human Mutation, 1999
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0