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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: proverbio mc. 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: proverbio mc. 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
Ctla4 and multiple sclerosis in the Italian population.
Malferrari G, Stella A, Monferini E, Saltini G, Proverbio MC, Grimaldi LM, Rossi-Bernardi L, Biunno I. Malferrari G, et al. Among authors: proverbio mc. Exp Mol Pathol. 2005 Feb;78(1):55-7. doi: 10.1016/j.yexmp.2004.10.001. Exp Mol Pathol. 2005. PMID: 15596061
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: proverbio mc. 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
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
Sogno Valin P, Proverbio MC, Diceglie C, Gessi A, di Candia S, Mariani B, Zamproni I, Mangano E, Asselta R, Battaglia C, Caruso-Nicoletti M, Mora S, Salvatoni A. Sogno Valin P, et al. Among authors: proverbio mc. Horm Res Paediatr. 2013;79(4):236-42. doi: 10.1159/000350827. Epub 2013 May 1. Horm Res Paediatr. 2013. PMID: 23652837
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, Valin PS, Di Candia S, Zamproni I, Diceglie C, Mora S, Caruso-Nicoletti M, Salvatoni A, De Bellis G, Battaglia C. Proverbio MC, et al. PLoS One. 2013 Jul 15;8(7):e68740. doi: 10.1371/journal.pone.0068740. Print 2013. PLoS One. 2013. PMID: 23869231 Free PMC article.
35 results