| Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis M Sousa, MF Servidoni, AM Vinagre, AS Ramalho, LC Bonadia, V Felicio, ... Public Library of Science 7 (10), e47708, 2012 | 82 | 2012 |
| R560S: A class II CFTR mutation that is not rescued by current modulators NT Awatade, S Ramalho, IAL Silva, V Felício, HM Botelho, E de Poel, ... Journal of Cystic Fibrosis 18 (2), 182-189, 2019 | 38 | 2019 |
| The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through … LA Clarke, NT Awatade, VM Felício, IA Silva, M Calucho, L Pereira, ... Human mutation 40 (3), 326-334, 2019 | 37 | 2019 |
| Cystic fibrosis newborn screening in Portugal: PAP value in populations with stringent rules for genetic studies A Marcão, C Barreto, L Pereira, LG Vaz, J Cavaco, A Casimiro, M Félix, ... International journal of neonatal screening 4 (3), 22, 2018 | 37 | 2018 |
| Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations AS Ramalho, LA Clarke, M Sousa, V Felicio, C Barreto, C Lopes, ... Journal of Cystic Fibrosis 15 (1), 21-33, 2016 | 25 | 2016 |
| mRNA‐based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity V Felício, AS Ramalho, S Igreja, MD Amaral Clinical Genetics 91 (3), 476-481, 2017 | 17 | 2017 |
| BAG-1 stabilizes mutant F508del-CFTR in a ubiquitin-like-domain-dependent manner F Mendes, CM Farinha, V Felício, PC Alves, I Vieira, MD Amaral Cellular Physiology and Biochemistry 30 (5), 1120-1133, 2012 | 14 | 2012 |
| Full rescue of F508del-CFTR processing and function by CFTR modulators can be achieved by removal of two regulatory regions I Uliyakina, HM Botelho, AC da Paula, S Afonso, MJ Lobo, V Felício, ... International Journal of Molecular Sciences 21 (12), 4524, 2020 | 7 | 2020 |
| Functional and biochemical assessment of correctors and potentiators on the rare cystic fibrosis-causing R560S mutation NT Awatade, V Felício, S Ramalho, HM Botelho, I Silva, E De Poel, ... PEDIATRIC PULMONOLOGY 52, S219-S219, 2017 | 1 | 2017 |
| Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators can be Achieved by Removal of Two Unique Regulatory Regions: Role of regulatory extension on CFTR stability I Uliyakina, AC Da Paula, S Afonso, MJ Lobo, V Felício, HM Botelho, ... bioRxiv, 320630, 2018 | | 2018 |
| Characterization of mRNA Dysfunctional Mechanisms Associated with the Genetic Disease Cystic Fibrosis VMR Felício PQDT-Global, 2018 | | 2018 |
| The effect of PTC mutations on CFTR messenger RNA abundance LA Clarke, V Felicio, S Igreja, S Gartner, C Bertuzzo, J Beekman, ... Pediatric pulmonology, 2016 | | 2016 |
| COMPARING beta-ADRENERGIC SWEAT SECRETION ASSAY TO TRANSEPITHELIAL POTENTIAL DIFFERENCE MEASUREMENTS IN RECTAL TISSUE BIOPSIES AND NASAL POTENTIAL DIFFERENCE MEASUREMENTS M Servidoni, M Sousa, J Avolio, W Ip, K Griffin, V Felicio, C Souza, ... PEDIATRIC PULMONOLOGY 49, 309-309, 2014 | | 2014 |
| WS4. 3 Rescue of F508del-CFTR without the regulatory insertion (ΔRI) and regulatory extension (ΔRE) in combination with genetic revertants and small molecules I Uliyakina, AC da Paula, M Sousa, V Felicio, S Afonso, NT Awatade, ... Journal of Cystic Fibrosis, S7, 2013 | | 2013 |
| WS10. 5 Impact of CFTR mutations affecting mRNA processing and looking for therapeutic compounds AS Ramalho, V Felicio, MD Amaral Journal of Cystic Fibrosis, S21, 2013 | | 2013 |
| 12 Using a mRNA-based approach to detect rare CFTR mutations V Felicio, MD Amaral, AS Ramalho Journal of Cystic Fibrosis, S50, 2013 | | 2013 |
| FROM THE BASIC DEFECT TO THERAPY: FUNCTIONAL CLASSIFICATION OF CFTR MUTATIONS BASED ON MRNA, PROTEIN AND FUNCTIONAL ANALYSES AS Ramalho, V Felicio, S Igreja, MD Amaral Pediatric Pulmonology 47, 280-280, 2012 | | 2012 |
