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
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Mild cystic fibrosis in patients with the rare P5L CFTR mutation.
Spicuzza L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.
Faucz FR et al.
Clinical Genetics, 2007
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
Alonso MJ et al.
Annals of Human Genetics, 2007
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.
Attardo T et al.
International Journal of Andrology, 2001
Fluorescent sequencing for heterozygote mutation detection.
Graham CA et al.
Methods in Molecular Biology (clifton, N.j.), 2001
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
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
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Lázaro C et al.
Human Mutation, 1999
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Dörk T et al.
Human Genetics, 1997
Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome.
Paton BC et al.
American Journal of Human Genetics, 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
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
Estivill X et al.
Human Mutation, 1997
Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton AE et al.
Human Mutation, 1997
Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
Casals T et al.
Prenatal Diagnosis, 1996
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
Chillón M et al.
The New England Journal of Medicine, 1995
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
Chillón M et al.
American Journal of Human Genetics, 1995
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.
Casals T et al.
Human Genetics, 1995
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B et al.
American Journal of Human Genetics, 1995
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Morral N et al.
American Journal of Human Genetics, 1994
Mutation analysis in 600 French cystic fibrosis patients.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1994
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.
Chillón M 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
A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient.
Bienvenu T et al.
Human Molecular 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
[Prenatal diagnosis of cystic fibrosis].
Estivill X
Anales Espanoles De Pediatria, 1988
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
Heim RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0