Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 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
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.
Karri S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 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
Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription.
Dreano E et al.
The European Respiratory Journal, 2023
Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist.
Nichols DP et al.
The Journal of Clinical Investigation, 2023
The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Burgel PR et al.
The European Respiratory Journal, 2023
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Rueda-Nieto S et al.
Orphanet Journal of Rare Diseases, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
Mondejar-Lopez P et al.
Respiratory Medicine, 2022
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
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
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
Sasaki E et al.
European Journal of Human Genetics : Ejhg, 2020
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.
Zybert K et al.
Pediatric Pulmonology, 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
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Phosphorylation-dependent modulation of CFTR macromolecular signalling complex activity by cigarette smoke condensate in airway epithelia.
Schnúr A et al.
Scientific Reports, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Sugunaraj JP et al.
Npj Genomic Medicine, 2019
Vitamin E status and its determinants in patients with cystic fibrosis.
Sapiejka E et al.
Advances in Medical Sciences, 2018
Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I et al.
Erj Open Research, 2018
Structural abnormalities in islets from very young children with cystic fibrosis may contribute to cystic fibrosis-related diabetes.
Bogdani M et al.
Scientific Reports, 2017
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
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
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
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Raju SV et al.
Respiratory Research, 2014
Cigarette smoke induces systemic defects in cystic fibrosis transmembrane conductance regulator function.
Raju SV et al.
American Journal of Respiratory and Critical Care Medicine, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A et al.
European Journal of Human Genetics : Ejhg, 2013
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011
Neonatal screening in Europe. Abstracts of the 7th ISNS European Neonatal Screening Regional Meeting. Geneva, Switzerland. August 28-30, 2011.
Unknown Author
Journal of Inherited Metabolic Disease, 2011
Cystic fibrosis carrier testing in an ethnically diverse US population.
Rohlfs EM et al.
Clinical Chemistry, 2011
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
de Becdelièvre A et al.
Human Genetics, 2011