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Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: vecchio d. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH).
Buonuomo PS, Mastrogiorgio G, Carletti M, Rana I, Macchiaiolo M, Gonfiantini MV, Vecchio D, Porzio O, Bartuli A. Buonuomo PS, et al. Among authors: vecchio d. Pediatr Cardiol. 2020 Aug;41(6):1242-1243. doi: 10.1007/s00246-020-02392-1. Epub 2020 Jun 9. Pediatr Cardiol. 2020. PMID: 32518962 No abstract available.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: vecchio d. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066
Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.
Lo Bianco M, Vecchio D, Timpanaro TA, Arena A, Macchiaiolo M, Bartuli A, Sciuto L, Presti S, Sciuto S, Sapuppo A, Fiumara A, Marino L, Messina G, Pavone P. Lo Bianco M, et al. Among authors: vecchio d. Brain Sci. 2020 Jul 15;10(7):451. doi: 10.3390/brainsci10070451. Brain Sci. 2020. PMID: 32679641 Free PMC article.
Ancient Romans and Down Syndrome.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Bartuli A. Vecchio D, et al. Pediatr Res. 2021 Dec;90(6):1266-1267. doi: 10.1038/s41390-021-01366-0. Epub 2021 Feb 2. Pediatr Res. 2021. PMID: 33531671 No abstract available.
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D'Agostini M, Porzio O, De Martino V, Minisola S, Macchiaiolo M, De Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, Del Fattore A. Rossi M, et al. Among authors: d agostini m, vecchio d. FASEB J. 2021 Mar;35(3):e21424. doi: 10.1096/fj.202001904RR. FASEB J. 2021. PMID: 33609323
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A. Mastrogiorgio G, et al. Among authors: vecchio d. Orphanet J Rare Dis. 2021 Mar 1;16(1):112. doi: 10.1186/s13023-021-01731-6. Orphanet J Rare Dis. 2021. PMID: 33648541 Free PMC article.
414 results