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
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 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
Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study.
Campbell K et al.
Urology, 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
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.
Cai H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
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
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
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.
Teder M et al.
Journal of Medical Genetics, 2000
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens.
Casals T et al.
Human Reproduction (oxford, England), 2000
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
[Detection of frequent mutations of the CFTR gene in cystic fibrosis patients from Central Russia].
Petrova NV et al.
Genetika, 1997
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996
Novel frameshift mutation in exon 4 of CFTR gene.
Ivaschenko T et al.
Human Mutation, 1995
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Verlingue C et al.
Human Mutation, 1995
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1994
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.
Chillón M et al.
Human Genetics, 1994
Cystic fibrosis in a low-incidence population: two major mutations in Finland.
Kere J et al.
Human Genetics, 1994
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Chillón M et al.
Human Mutation, 1994
Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.
Ivaschenko TE et al.
Human Genetics, 1993
Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.
Baranov VS
Journal of Medical Genetics, 1993
Complex mutation 4114 ATA-->TT in exon 22 of the cystic fibrosis gene CFTR.
Dörk T et al.
Human Mutation, 1993
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
Tsui LC
Human Mutation, 1992