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Page 1
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT, Ramalho S, Silva IAL, Felício V, Botelho HM, de Poel E, Vonk A, Beekman JM, Farinha CM, Amaral MD. Awatade NT, et al. Among authors: felicio v. J Cyst Fibros. 2019 Mar;18(2):182-189. doi: 10.1016/j.jcf.2018.07.001. Epub 2018 Jul 18. J Cyst Fibros. 2019. PMID: 30030066 Free article.
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.
Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD. Clarke LA, et al. Among authors: felicio vm. Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10. Hum Mutat. 2019. PMID: 30488522
Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies.
Marcão A, Barreto C, Pereira L, Vaz LG, Cavaco J, Casimiro A, Félix M, Silva TR, Barbosa T, Freitas C, Nunes S, Felício V, Lopes L, Amaral M, Vilarinho L. Marcão A, et al. Among authors: felicio v. Int J Neonatal Screen. 2018 Jun 29;4(3):22. doi: 10.3390/ijns4030022. eCollection 2018 Sep. Int J Neonatal Screen. 2018. PMID: 33072945 Free PMC article.
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Sousa M, Servidoni MF, Vinagre AM, Ramalho AS, Bonadia LC, Felício V, Ribeiro MA, Uliyakina I, Marson FA, Kmit A, Cardoso SR, Ribeiro JD, Bertuzzo CS, Sousa L, Kunzelmann K, Ribeiro AF, Amaral MD. Sousa M, et al. Among authors: felicio v. PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082198 Free PMC article.