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A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. Contrò G, et al. Among authors: fabiani f. Hum Genome Var. 2019 Jun 20;6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019. Hum Genome Var. 2019. PMID: 31240106 Free PMC article.
New SLC12A3 disease causative mutation of Gitelman's syndrome.
Grillone T, Menniti M, Bombardiere F, Vismara MF, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. Grillone T, et al. Among authors: fabiani f. World J Nephrol. 2016 Nov 6;5(6):551-555. doi: 10.5527/wjn.v5.i6.551. World J Nephrol. 2016. PMID: 27872838 Free PMC article.
The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
Vismara MF, Colao E, Fabiani F, Bombardiere F, Tamburrini O, Alessio C, Manti F, Pelaia G, Romeo P, Iuliano R, Perrotti N. Vismara MF, et al. Among authors: fabiani f. Respir Med Case Rep. 2015 Aug 12;16:77-80. doi: 10.1016/j.rmcr.2015.08.002. eCollection 2015. Respir Med Case Rep. 2015. PMID: 26744662 Free PMC article.
Real-life 3D therapy failure: Analysis of NS5A 93H RAS plus 108 K polymorphism in complex with ombitasvir by molecular modeling.
Marascio N, Pavia G, Romeo I, Talarico C, Di Salvo S, Reale M, Marano V, Barreca GS, Fabiani F, Perrotti N, De Siena M, Giancotti F, Gravina T, Alcaro S, Artese A, Torti C, Liberto MC, Focà A. Marascio N, et al. Among authors: fabiani f. J Med Virol. 2018 Jul;90(7):1257-1263. doi: 10.1002/jmv.25073. Epub 2018 Mar 31. J Med Virol. 2018. PMID: 29575060
Polymorphic Variants in NR1I3 and UGT2B7 Predict Taxane Neurotoxicity and Have Prognostic Relevance in Patients With Breast Cancer: A Case-Control Study.
Arbitrio M, Scionti F, Altomare E, Di Martino MT, Agapito G, Galeano T, Staropoli N, Iuliano E, Grillone F, Fabiani F, Caracciolo D, Cannataro M, Arpino G, Santini D, Tassone P, Tagliaferri P. Arbitrio M, et al. Among authors: fabiani f. Clin Pharmacol Ther. 2019 Aug;106(2):422-431. doi: 10.1002/cpt.1391. Epub 2019 Mar 28. Clin Pharmacol Ther. 2019. PMID: 30739312
181 results