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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: porzio o. J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777. J Clin Invest. 2008. PMID: 18451997 Free PMC article.
Polymorphisms of the insulin receptor substrate-2 in patients with type 2 diabetes.
D'Alfonso R, Marini MA, Frittitta L, Sorge R, Frontoni S, Porzio O, Mariani LM, Lauro D, Gambardella S, Trischitta V, Federici M, Lauro R, Sesti G. D'Alfonso R, et al. Among authors: porzio o. J Clin Endocrinol Metab. 2003 Jan;88(1):317-22. doi: 10.1210/jc.2002-020807. J Clin Endocrinol Metab. 2003. PMID: 12519871
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: porzio o. Hum Mutat. 2005 Jan;25(1):22-7. doi: 10.1002/humu.20124. Hum Mutat. 2005. PMID: 15580558
Timp3 deficiency in insulin receptor-haploinsufficient mice promotes diabetes and vascular inflammation via increased TNF-alpha.
Federici M, Hribal ML, Menghini R, Kanno H, Marchetti V, Porzio O, Sunnarborg SW, Rizza S, Serino M, Cunsolo V, Lauro D, Mauriello A, Smookler DS, Sbraccia P, Sesti G, Lee DC, Khokha R, Accili D, Lauro R. Federici M, et al. Among authors: porzio o. J Clin Invest. 2005 Dec;115(12):3494-505. doi: 10.1172/JCI26052. Epub 2005 Nov 17. J Clin Invest. 2005. PMID: 16294222 Free PMC article.
Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Porzio O, Cunsolo V, Malaponti M, De Nisco E, Acquafredda A, Cavallo L, Andreani M, Giardina E, Testi M, Cappa M, Federici G. Porzio O, et al. J Clin Endocrinol Metab. 2006 Nov;91(11):4510-3. doi: 10.1210/jc.2006-0779. Epub 2006 Aug 15. J Clin Endocrinol Metab. 2006. PMID: 16912133
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. Hum Mutat. 2007 Nov;28(11):1150. doi: 10.1002/humu.9511. Hum Mutat. 2007. PMID: 17939176
101 results