Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
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
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 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
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
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
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
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
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Deák A et al.
Orvosi Hetilap, 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 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
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
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients.
Chen Q et al.
Bmc Pediatrics, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.
Nappo S et al.
Annals of Human Genetics, 2020
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 2020
Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.
Mortazavipour MM et al.
Hemoglobin, 2020
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.
Wang YQ et al.
World Journal of Clinical Cases, 2019
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.
Kerschner JL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Vitamin E status and its determinants in patients with cystic fibrosis.
Sapiejka E et al.
Advances in Medical Sciences, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Four case reports of Chinese cystic fibrosis patients and literature review.
Xu J et al.
Pediatric Pulmonology, 2017
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
Zheng B et al.
Pediatric Pulmonology, 2017
Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis.
Drzymała-Czyż S et al.
International Journal of Molecular Sciences, 2017
Pancreatic Elastase-1 Quick Test for rapid assessment of pancreatic status in cystic fibrosis patients.
Walkowiak J et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Glandular Proteome Identifies Antiprotease Cystatin C as a Critical Modulator of Airway Hydration and Clearance.
Evans TI et al.
American Journal of Respiratory Cell and Molecular Biology, 2016
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
Puzik A et al.
Bmc Pediatrics, 2014
Genotyping efficiency of 2 primer sets and an unlabeled oligonucleotide probe for the p.Phe508del in exon 10 of the CFTR gene as determined with high-resolution melting analysis.
Poulou M et al.
Clinical Chemistry, 2012
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
The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.
Mesoraca A et al.
Journal of Prenatal Medicine, 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
Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic.
Slostad J et al.
Fertility and Sterility, 2007
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
Pérez MM et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2007
ERCP findings in idiopathic pancreatitis: patients who are cystic fibrosis gene positive and negative.
Alazmi WM et al.
Gastrointestinal Endoscopy, 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
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
Raskin S et al.
Genetic Testing, 2003
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Wang Z et al.
Human Reproduction (oxford, England), 2002
P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
Gilfillan A et al.
Journal of Medical Genetics, 1998