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Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Macchiaiolo M, Panfili FM, Gonfiantini MV, Mastrogiorgio G, Buonuomo PS, Gaspari S, Longo D, Zollino M, Bartuli A. Macchiaiolo M, et al. Among authors: longo d. Am J Med Genet A. 2020 Nov;182(11):2746-2750. doi: 10.1002/ajmg.a.61840. Epub 2020 Sep 18. Am J Med Genet A. 2020. PMID: 32945094
An unusual presentation of tuberous sclerosis.
Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A. Macchiaiolo M, et al. Among authors: longo d. 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.
Langerhans' Cell Histiocytosis Mimicking a Pott Puffy Tumor.
Pasquini L, Rossi Espagnet MC, Esposito G, De Vito R, Messina R, Gaspari S, Longo D. Pasquini L, et al. Among authors: longo d. J Pediatr Hematol Oncol. 2018 Apr;40(3):e182-e184. doi: 10.1097/MPH.0000000000000884. J Pediatr Hematol Oncol. 2018. PMID: 28562520
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: d amico a, longo d. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: d amico j, longo d. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
1,178 results