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Monogenic diabetes clinic (MDC): 3-year experience.
Rapini N, Patera PI, Schiaffini R, Ciampalini P, Pampanini V, Cristina MM, Deodati A, Bracaglia G, Porzio O, Ruta R, Novelli A, Mucciolo M, Cianfarani S, Barbetti F. Rapini N, et al. Among authors: barbetti f. Acta Diabetol. 2023 Jan;60(1):61-70. doi: 10.1007/s00592-022-01972-2. Epub 2022 Sep 30. Acta Diabetol. 2023. PMID: 36178555 Free PMC article.
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. Massa O, et al. Among authors: barbetti f. Hum Mutat. 2005 Jan;25(1):22-7. doi: 10.1002/humu.20124. Hum Mutat. 2005. PMID: 15580558
Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.
Porzio O, Massa O, Cunsolo V, Colombo C, Malaponti M, Bertuzzi F, Hansen T, Johansen A, Pedersen O, Meschi F, Terrinoni A, Melino G, Federici M, Decarlo N, Menicagli M, Campani D, Marchetti P, Ferdaoussi M, Froguel P, Federici G, Vaxillaire M, Barbetti F. Porzio O, et al. Among authors: barbetti f. Hum Mutat. 2007 Nov;28(11):1150. doi: 10.1002/humu.9511. Hum Mutat. 2007. PMID: 17939176
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.
Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). Colombo C, et al. Among authors: barbetti f. J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777. J Clin Invest. 2008. PMID: 18451997 Free PMC article.
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Barbetti F, Cobo-Vuilleumier N, Dionisi-Vici C, Toni S, Ciampalini P, Massa O, Rodriguez-Bada P, Colombo C, Lenzi L, Garcia-Gimeno MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL. Barbetti F, et al. Mol Endocrinol. 2009 Dec;23(12):1983-9. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2. Mol Endocrinol. 2009. PMID: 19884385 Free PMC article.
Pre-diabetes in Italian obese children and youngsters.
Brufani C, Fintini D, Ciampalini P, Nocerino V, Crea F, Giannone G, Patera PI, Valerio G, Cappa M, Barbetti F. Brufani C, et al. Among authors: barbetti f. J Endocrinol Invest. 2011 Oct;34(9):e275-80. doi: 10.3275/7798. Epub 2011 Jun 7. J Endocrinol Invest. 2011. PMID: 21666412
131 results