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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. Among authors: gessi a. PLoS One. 2013 Jul 15;8(7):e68740. doi: 10.1371/journal.pone.0068740. Print 2013. PLoS One. 2013. PMID: 23869231 Free PMC article.
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: gessi a. Horm Res Paediatr. 2013;79(4):236-42. doi: 10.1159/000350827. Epub 2013 May 1. Horm Res Paediatr. 2013. PMID: 23652837
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: gessi a. 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
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