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AOU CAREGGI FIRENZE-GENETICA MEDICA

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

Giorni Appuntamento

dal lunedì al venerdì 8:30-12:30

Telefono Appuntamento

0557946336

Malattie e ruoli del presidio nella Rete Toscana Malattie Rare