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
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 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
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
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.
Varkki SD et al.
The Lancet Regional Health. Southeast Asia, 2024
Translation velocity determines the efficacy of engineered suppressor tRNAs on pathogenic nonsense mutations.
Bharti N et al.
Nature Communications, 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
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
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
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
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 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
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Elexacaftor-tezacaftor-ivacaftor: The new paradigm to treat people with cystic fibrosis with at least one p.Phe508del mutation.
Gramegna A et al.
Current Opinion in Pharmacology, 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
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Kiseleva AV et al.
Journal of Personalized Medicine, 2020
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 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
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.
Guo X et al.
Orphanet Journal of Rare Diseases, 2018
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
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
Shen Y et al.
The Journal of Pediatrics, 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
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
El-Seedy A et al.
Human Mutation, 2012
Abnormal electrochemical skin conductance in cystic fibrosis.
Hubert D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.
Liechti-Gallati S et al.
European Journal of Human Genetics : Ejhg, 1999
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.
Claustres M et al.
Human Genetics, 1996
Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.
Claustres M et al.
Human Molecular Genetics, 1993
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Gaitch N et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0