Associated Papers
Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.
Pranke I et al.
Frontiers in Pharmacology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators.
Capraro M et al.
International Journal of Molecular Sciences, 2023
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Dell'Edera D et al.
Journal of Medical Case Reports, 2014
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.
Raynal C et al.
Human Mutation, 2013
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 2013
Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
Handschick M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
Enquist K et al.
Journal of Molecular Biology, 2009
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
Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.
Castaldo G et al.
Annals of Human Genetics, 2005
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.
Teder M et al.
Journal of Medical Genetics, 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
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
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Dörk T et al.
Human 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