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
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 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
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study.
Markulić J et al.
Bmj Open, 2025
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
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Jeppesen LD et al.
Prenatal Diagnosis, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 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
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Rispoli T et al.
Molecular Diagnosis & Therapy, 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
The CFTR gene variants in Japanese children with idiopathic pancreatitis.
Iso M et al.
Human Genome Variation, 2019
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
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Oud MS et al.
Human Mutation, 2017
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
Mohseni M et al.
Iranian Biomedical Journal, 2016
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
Sontag MK et al.
The Journal of Pediatrics, 2016
[Treatment of Cystic Fibrosis with CFTR Modulators].
Tümmler B
Pneumologie (stuttgart, Germany), 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
Screening for cystic fibrosis in New York State: considerations for algorithm improvements.
Kay DM et al.
European Journal of Pediatrics, 2016
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes EE et al.
Human Mutation, 2016
Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.
Brennan ML et al.
The Journal of Molecular Diagnostics : Jmd, 2016
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
Sánchez K et al.
The Application of Clinical Genetics, 2016
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.
Audrézet MP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Rechitsky S et al.
Reproductive Biomedicine Online, 2013
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
El-Seedy A et al.
Human Mutation, 2012
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Strom CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011
Mutation distribution in expanded screening for cystic fibrosis: making up the balance in a context of ethnic diversity.
Schrijver I
Clinical Chemistry, 2011
Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.
Ivady G et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
Schwartz KM et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Estimating the age of CFTR mutations predominantly found in Brittany (Western France).
Fichou Y et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.
Ogino S et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.
Kinnunen S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005