Associated Papers
Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications.
Arres J et al.
Genome Research, 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
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
Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
Loukas YL et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
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
Cystic Fibrosis testing among Arab-Americans.
Wei S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
ERCP findings in idiopathic pancreatitis: patients who are cystic fibrosis gene positive and negative.
Alazmi WM et al.
Gastrointestinal Endoscopy, 2006
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.
Raskin S et al.
Genetic Testing, 2003
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens.
Josserand RN et al.
Human Reproduction (oxford, England), 2001
Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.
Walkowiak J et al.
European Journal of Clinical Investigation, 2001
Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis.
Monaghan KG et al.
American Journal of Medical Genetics, 2000
Inherited causes of exocrine pancreatic dysfunction.
Durie PR
Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie, 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
Analysis of 40 known cystic fibrosis mutations in South African patients.
Goldman A et al.
Clinical 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
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
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
Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
Ravnik-Glavac M et al.
Human Mutation, 1994
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Nunes V et al.
Human Molecular Genetics, 1993
Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
Claustres M et al.
Human Genetics, 1992
Tracking disease genes by reverse genetics.
Pignatti PF et al.
Journal of Psychiatric Research, 1992
Genetic determination of exocrine pancreatic function in cystic fibrosis.
Kristidis P et al.
American Journal of Human Genetics, 1992
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
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
Cremonesi L et al.
Human Mutation, 1992
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