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Page 1
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: di duca m. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
A novel two bases deletion in the albumin gene causes analbuminaemia in a young Turkish man.
Caridi G, Dagnino M, Di Duca M, Akyuz F, Boztas G, Besisik F, Demir K, Ormeci A, Gokturk S, Cefle K, Ozturk Ş, Palanduz S, Campagnoli M, Galliano M, Minchiotti L. Caridi G, et al. Among authors: di duca m. Clin Chim Acta. 2012 May 18;413(9-10):950-1. doi: 10.1016/j.cca.2012.01.030. Epub 2012 Feb 1. Clin Chim Acta. 2012. PMID: 22327004 No abstract available.
Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.
Di Duca M, Oleggini R, Sanna-Cherchi S, Pasquali L, Di Donato A, Parodi S, Bertelli R, Caridi G, Frasca G, Cerullo G, Amoroso A, Schena FP, Scolari F, Ghiggeri GM; European IgA Nephropathy Consortium. Di Duca M, et al. Among authors: di donato a. Kidney Int. 2006 Oct;70(7):1332-41. doi: 10.1038/sj.ki.5001767. Epub 2006 Aug 9. Kidney Int. 2006. PMID: 16900088 Free article.
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.
Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. Matera I, et al. Among authors: di duca m. J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412. J Med Genet. 2004. PMID: 15121777 Free PMC article. No abstract available.
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.
Borghini S, Fiore M, Di Duca M, Caroli F, Finetti M, Santamaria G, Ferlito F, Bua F, Picco P, Obici L, Martini A, Gattorno M, Ceccherini I. Borghini S, et al. Among authors: di duca m. J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1. J Rheumatol. 2011. PMID: 21459945
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: di duca m. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
56 results