Associated Papers
Molecular and pharmacological evaluation of rare, cystic fibrosis-causing missense mutations of the CFTR channel.
Závoti O et al.
The Journal of Physiology, 2025
To conquer cystic fibrosis: One genotype each time.
Gao X
The Journal of Physiology, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Deák A et al.
Orvosi Hetilap, 2022
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Hatton A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Vitamin E status and its determinants in patients with cystic fibrosis.
Sapiejka E et al.
Advances in Medical Sciences, 2018
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A et al.
European Journal of Human Genetics : Ejhg, 2013
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Lázaro C et al.
Human Mutation, 1999
Vitamin A status and its determinants in patients with cystic fibrosis.
Sapiejka E et al.
Acta Scientiarum Polonorum. Technologia Alimentaria, 0