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Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X. Casals T, et al. Among authors: pereira s. Hum Mutat. 1997;10(5):387-92. doi: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9375855
Extent of rescue of F508del-CFTR function by VX-809 and VX-770 in human nasal epithelial cells correlates with SNP rs7512462 in SLC26A9 gene in F508del/F508del Cystic Fibrosis patients.
Kmit A, Marson FAL, Pereira SV, Vinagre AM, Leite GS, Servidoni MF, Ribeiro JD, Ribeiro AF, Bertuzzo CS, Amaral MD. Kmit A, et al. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1323-1331. doi: 10.1016/j.bbadis.2019.01.029. Epub 2019 Feb 1. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 30716472 Free article.
Development of a Novel Clinical Classification for Radiation-induced Cystitis: The Portuguese Navy Radiation-induced Cystitis (PNRC) Scale.
Ribeiro de Oliveira T, Amaro CD, Pereira SH, Castro AS, Monteiro PG, Felício JC, Bernardo G, Chambino J, Dos Reis JP, Biyani CS. Ribeiro de Oliveira T, et al. Among authors: pereira sh. Eur Urol Open Sci. 2024 Dec 31;71:193-199. doi: 10.1016/j.euros.2024.12.006. eCollection 2025 Jan. Eur Urol Open Sci. 2024. PMID: 39845742 Free PMC article.
Broadband coherent Fourier scatterometry: A two-pulse approach.
van der Sijs TA, Rafighdoost J, Siaudinyte L, Urbach HP, Pereira SF, El Gawhary O. van der Sijs TA, et al. Among authors: pereira sf. Rev Sci Instrum. 2025 Jan 1;96(1):013702. doi: 10.1063/5.0226043. Rev Sci Instrum. 2025. PMID: 39841065
Mechanisms of blaIMP-4 dissemination across diverse carbapenem resistant clinical isolates.
Fu Y, Morris FC, Pereira SC, Kostoulias X, Jiang Y, Vidor C, Williams G, Srikhanta Y, Macesic N, Yu Y, Lyras D, Peleg AY. Fu Y, et al. Among authors: pereira sc. J Glob Antimicrob Resist. 2025 Jan 16:S2213-7165(25)00008-6. doi: 10.1016/j.jgar.2025.01.003. Online ahead of print. J Glob Antimicrob Resist. 2025. PMID: 39826686 Free article.
2,908 results