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Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients.
Hansen L, Fjordvang H, Rasmussen SK, Vestergaard H, Echwald SM, Hansen T, Alessi D, Shenolikar S, Saltiel AR, Barbetti F, Pedersen O. Hansen L, et al. Among authors: barbetti f. Diabetes. 1999 Feb;48(2):403-7. doi: 10.2337/diabetes.48.2.403. Diabetes. 1999. PMID: 10334321
Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.
Hansen L, Urioste S, Petersen HV, Jensen JN, Eiberg H, Barbetti F, Serup P, Hansen T, Pedersen O. Hansen L, et al. Among authors: barbetti f. J Clin Endocrinol Metab. 2000 Mar;85(3):1323-6. doi: 10.1210/jcem.85.3.6421. J Clin Endocrinol Metab. 2000. PMID: 10720084 Clinical Trial.
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.
Intrafamilial Variability of Early-Onset Diabetes due to an INS Mutation.
Fredheim S, Svensson J, Pørksen S, Hansen L, Hansen T, Pedersen OB, Mortensen HB, Barbetti F, Nielsen LB. Fredheim S, et al. Among authors: barbetti f. Case Rep Genet. 2011;2011:258978. doi: 10.1155/2011/258978. Epub 2011 Jun 30. Case Rep Genet. 2011. PMID: 23074673 Free PMC article.
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Diabetes Study Group of the Italian Society of Paediatic Endocrinology and Diabetes (SIEDP). Massa O, et al. Among authors: barbetti f. Diabetologia. 2001 Jul;44(7):898-905. doi: 10.1007/s001250100530. Diabetologia. 2001. PMID: 11508276
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