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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Raju SV et al.
Respiratory Research, 2014
Cigarette smoke induces systemic defects in cystic fibrosis transmembrane conductance regulator function.
Raju SV et al.
American Journal of Respiratory and Critical Care Medicine, 2013
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
Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic.
Slostad J et al.
Fertility and Sterility, 2007
Splicing modulation as a modifier of the CFTR function.
Nissim-Rafinia M et al.
Progress in Molecular and Subcellular Biology, 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
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Detection of CFTR mutations using temporal temperature gradient gel electrophoresis.
Wong LJ et al.
Electrophoresis, 2004
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I et al.
Human Molecular Genetics, 2003
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
Wong LJ et al.
Human Mutation, 2001
A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family.
Wong LJ et al.
Prenatal Diagnosis, 2000