AOU CAREGGI FIRENZE-GENETICA MEDICA

Indirizzo	Viale G. Pieraccini 6, 50139 Firenze
Attività	Visite di genetica clinica Diagnosi genetica e clinica Controllo Certificazione N° casi: circa 150 con mutazione identificata Pubblicazioni su rivista Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P, Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi M; InSiGHT Variant Interpretation Committee. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Hum Mutat. 2017;38(1):64-77. Impact Factor: 5.34 Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M. MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. Eur J Hum Genet. 2014 Jul;22(7):923-9. Impact Factor: 4.349 Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A. MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. Int J Cancer. 2013 Mar 1;132(5):1060-9. Impact Factor: 5.085. Pastrello C, Baglioni S, Tibiletti MG, Papi L, Fornasarig M, Morabito A, Agostini M, Genuardi M, Viel A. Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet. 2006 Jan;14(1):63-8. Impact Factor: 4.349 Baglioni S, Melean G, Gensini F, Santucci M, Scatizzi M, Papi L, Genuardi M. A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet A. 2005 Apr 15;134A(2):212-4. Impact Factor: 2.159 Lucci-Cordisco E, Zollino M, Baglioni S, Mancuso I, Lecce R, Gurrieri F, Crucitti A, Papi L, Neri G, Genuardi M. A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. Clin Genet.2005 Feb;67(2):178-82. Impact Factor: 3.931 Bagnoli S, Putignano AL, Melean G, Baglioni S, Sestini R, Milla M, d'Albasio G, Genuardi M, Pacini F, Trallori G, Papi L. Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inflamm Bowel Dis. 2004 Nov;10(6):705-8. Impact Factor: 4.464 Messerini L, Ciantelli M, Baglioni S, Palomba A, Zampi G, Papi L. Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers. Hum Pathol. 1999 Jun;30(6):629-34. Impact Factor: 2.769 Messerini L, Vitelli F, De Vitis LR, Mori S, Calzolari A, Palmirotta R, Calabrò A, Papi L. Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. J Pathol. 1997 Aug;182(4):380-4. Impact Factor: 7.429
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Telefono appuntamento	0557946336