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Identification of a novel polymorphism in the fibronectin type II domain of the SEL1L gene and possible relation to the persistent hyperinsulinemic hypoglycemia of infancy.
Saltini G, Proverbio MC, Malferrari G, Biagiotti L, Boettcher P, Dominici R, Monferini E, Lorenzini E, Cattaneo M, Antonello D, Moore PS, Zamproni I, Viscardi M, Chiumello G, Biunno I. Saltini G, et al. Among authors: chiumello g. Mutat Res. 2004 Oct 4;554(1-2):159-63. doi: 10.1016/j.mrfmmm.2004.04.007. Mutat Res. 2004. PMID: 15450414
Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I. Biagiotti L, et al. Among authors: chiumello g. Exp Mol Pathol. 2007 Aug;83(1):59-64. doi: 10.1016/j.yexmp.2006.11.006. Epub 2007 Jan 17. Exp Mol Pathol. 2007. PMID: 17316607
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.
Di Candia S, Gessi A, Pepe G, Sogno Valin P, Mangano E, Chiumello G, Gianolli L, Proverbio MC, Mora S. Di Candia S, et al. Among authors: chiumello g. Eur J Endocrinol. 2009 Jun;160(6):1019-23. doi: 10.1530/EJE-08-0945. Epub 2009 Mar 24. Eur J Endocrinol. 2009. PMID: 19318379
310 results