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1,216 results

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Page 1
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. Among authors: colombo c. 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.
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. J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777. J Clin Invest. 2008. PMID: 18451997 Free PMC article.
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Grasso V, et al. Among authors: colombo c. Acta Diabetol. 2013 Dec;50(6):951-7. doi: 10.1007/s00592-013-0490-x. Epub 2013 Jul 4. Acta Diabetol. 2013. PMID: 23824322
No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years.
Iafusco D, Salardi S, Chiari G, Toni S, Rabbone I, Pesavento R, Pasquino B, de Benedictis A, Maltoni G, Colombo C, Russo L, Massa O, Sudano M, Cadario F, Porta M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Iafusco D, et al. Among authors: colombo c. Diabetes Care. 2014 Aug;37(8):e181-2. doi: 10.2337/dc14-0471. Diabetes Care. 2014. PMID: 25061150 No abstract available.
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F; ISPED Early Diabetes Study Group. Russo L, et al. Among authors: colombo c. Diabetologia. 2011 Jul;54(7):1693-701. doi: 10.1007/s00125-011-2094-8. Epub 2011 Mar 10. Diabetologia. 2011. PMID: 21544516 Free PMC article.
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: colombo c. Hum Mutat. 2007 Nov;28(11):1150. doi: 10.1002/humu.9511. Hum Mutat. 2007. PMID: 17939176
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG. Loechner KJ, et al. Among authors: colombo c. Diabetes. 2011 Jan;60(1):209-17. doi: 10.2337/db10-0731. Epub 2010 Oct 27. Diabetes. 2011. PMID: 20980454 Free PMC article.
1,216 results