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Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: macchiaiolo m. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
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: macchiaiolo m. 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
Ancient Romans and Down Syndrome.
Vecchio D, Macchiaiolo M, Gonfiantini MV, Bartuli A. Vecchio D, et al. Among authors: macchiaiolo m. 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.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Vecchio D, Cocciadiferro D, Macchiaiolo M, Gonfiantini MV, Agolini E, Matraxia M, Carboni A, Coretti A, Villani A, Panfili FM, Dentici ML, Buonuomo PS, Rana I, Colafati GS, Digilio MC, Novelli A, Bartuli A. Vecchio D, et al. Among authors: macchiaiolo m. Clin Genet. 2022 Aug;102(2):142-148. doi: 10.1111/cge.14150. Epub 2022 May 21. Clin Genet. 2022. PMID: 35575217 Free PMC article.
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. 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.
Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia.
Panfili FM, Pietrobattista A, Vecchio D, Gonfiantini MV, Bartuli A, Macchiaiolo M. Panfili FM, et al. Among authors: macchiaiolo m. Front Genet. 2023 Dec 22;14:1255807. doi: 10.3389/fgene.2023.1255807. eCollection 2023. Front Genet. 2023. PMID: 38188503 Free PMC article. No abstract available.
An unusual presentation of tuberous sclerosis.
Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A. Macchiaiolo M, et al. Arch Dis Child. 2013 Mar;98(3):214-5. doi: 10.1136/archdischild-2012-302885. Epub 2013 Jan 12. Arch Dis Child. 2013. PMID: 23313916 No abstract available.
70 results