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Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
Cuyx S, Ramalho SS, Callebaut I, Cuppens H, Kmit A, Arnauts K, Ferrante M, Verfaillie C, Ensinck M, Carlon MS, Boon M, Proesmans M, Dupont L, De Boeck K, Farinha CM, Vermeulen F, Ramalho AS. Cuyx S, et al. Among authors: ramalho as. J Cyst Fibros. 2022 Jul;21(4):644-651. doi: 10.1016/j.jcf.2022.05.013. Epub 2022 Jun 9. J Cyst Fibros. 2022. PMID: 35690578
Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F. Amaral MD, et al. Among authors: ramalho as. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.
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: ramalho as. PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082198 Free PMC article.
rAAV-CFTRΔR Rescues the Cystic Fibrosis Phenotype in Human Intestinal Organoids and Cystic Fibrosis Mice.
Vidović D, Carlon MS, da Cunha MF, Dekkers JF, Hollenhorst MI, Bijvelds MJ, Ramalho AS, Van den Haute C, Ferrante M, Baekelandt V, Janssens HM, De Boeck K, Sermet-Gaudelus I, de Jonge HR, Gijsbers R, Beekman JM, Edelman A, Debyser Z. Vidović D, et al. Among authors: ramalho as. Am J Respir Crit Care Med. 2016 Feb 1;193(3):288-98. doi: 10.1164/rccm.201505-0914OC. Am J Respir Crit Care Med. 2016. PMID: 26509335
[New tools in cystic fibrosis].
Dournes G, De Boeck K, Bui S, Vermeulen F, Ramalho A, Chateil JF, Laurent F, Fayon M. Dournes G, et al. Arch Pediatr. 2016 Dec;23(12S):12S39-12S46. doi: 10.1016/S0929-693X(17)30061-1. Arch Pediatr. 2016. PMID: 28231892 Review. French.
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