Veronica M. Felicio
Lisbon, 1749016, Portugal
Last Updated: 09/26/2026
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Found 8 publications
Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.
Journal: International journal of molecular sciences
Published: May 22, 2020
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
Journal: Human mutation
Published: July 02, 2018
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Journal: International journal of neonatal screening
Published: May 10, 2018
R560S: A class II CFTR mutation that is not rescued by current modulators.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: January 14, 2018
mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.
Journal: Clinical genetics
Published: April 06, 2016
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: October 09, 2014
BAG-1 stabilizes mutant F508del-CFTR in a ubiquitin-like-domain-dependent manner.
Journal: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
Published: September 13, 2012
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Journal: PloS one
Published: June 02, 2012
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Last Updated: 09/26/2026