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Page 1
Triple Therapy for Cystic Fibrosis Phe508del-Gating and -Residual Function Genotypes.
Barry PJ, Mall MA, Álvarez A, Colombo C, de Winter-de Groot KM, Fajac I, McBennett KA, McKone EF, Ramsey BW, Sutharsan S, Taylor-Cousar JL, Tullis E, Ahluwalia N, Jun LS, Moskowitz SM, Prieto-Centurion V, Tian S, Waltz D, Xuan F, Zhang Y, Rowe SM, Polineni D; VX18-445-104 Study Group. Barry PJ, et al. N Engl J Med. 2021 Aug 26;385(9):815-825. doi: 10.1056/NEJMoa2100665. N Engl J Med. 2021. PMID: 34437784 Free PMC article. Clinical Trial.
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Terlizzi V, Castaldo G, Salvatore D, Lucarelli M, Raia V, Angioni A, Carnovale V, Cirilli N, Casciaro R, Colombo C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F. Terlizzi V, et al. Among authors: cirilli n. J Med Genet. 2017 Apr;54(4):224-235. doi: 10.1136/jmedgenet-2016-103985. Epub 2016 Oct 13. J Med Genet. 2017. PMID: 27738188 Free article.
Real life practice of sweat testing in Europe.
Cirilli N, Southern KW, Buzzetti R, Barben J, Nährlich L, Munck A, Wilschanski M, De Boeck K, Derichs N; of the ECFS Diagnostic Network Working Group. Cirilli N, et al. J Cyst Fibros. 2017 Sep 27:S1569-1993(17)30881-0. doi: 10.1016/j.jcf.2017.09.002. Online ahead of print. J Cyst Fibros. 2017. PMID: 28964647 Free article.
Clinical expression of patients with the D1152H CFTR mutation.
Terlizzi V, Carnovale V, Castaldo G, Castellani C, Cirilli N, Colombo C, Corti F, Cresta F, D'Adda A, Lucarelli M, Lucidi V, Macchiaroli A, Madarena E, Padoan R, Quattrucci S, Salvatore D, Zarrilli F, Raia V. Terlizzi V, et al. Among authors: cirilli n. J Cyst Fibros. 2015 Jul;14(4):447-52. doi: 10.1016/j.jcf.2014.12.012. Epub 2015 Jan 10. J Cyst Fibros. 2015. PMID: 25583415 Free article.
[Italian Cystic Fibrosis Registry (ICFR). Report 2019-2020].
Campagna G, Amato A, Majo F, Ferrari G, Quattrucci S, Padoan R, Floridia G, Salvatore D, Carnovale V, Puppo Fornaro G, Taruscio D, Salvatore M; Gruppo di lavoro RIFC. Campagna G, et al. Epidemiol Prev. 2022 Jul-Aug;46(4 Suppl 2):1-38. doi: 10.19191/EP22.4S2.060. Epidemiol Prev. 2022. PMID: 36102313 Free article. Italian.
Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.
Sofia VM, Surace C, Terlizzi V, Da Sacco L, Alghisi F, Angiolillo A, Braggion C, Cirilli N, Colombo C, Di Lullo A, Padoan R, Quattrucci S, Raia V, Tuccio G, Zarrilli F, Tomaiuolo AC, Novelli A, Lucidi V, Lucarelli M, Castaldo G, Angioni A. Sofia VM, et al. Among authors: cirilli n. Mol Med. 2018 Jul 27;24(1):38. doi: 10.1186/s10020-018-0041-6. Mol Med. 2018. PMID: 30134826 Free PMC article.
37 results