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MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: malatesta p. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
A case of premature ovarian failure in a 33-year-old woman.
Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P. Colao E, et al. Among authors: malatesta p. Case Rep Genet. 2013;2013:573841. doi: 10.1155/2013/573841. Epub 2013 Jan 29. Case Rep Genet. 2013. PMID: 23509644 Free PMC article.
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
Primerano A, Colao E, Villella C, Nocera MD, Ciambrone A, Luciano E, D'Antona L, Vismara MFM, Loddo S, Novelli A, Perrotti N, Malatesta P. Primerano A, et al. Among authors: malatesta p. Mol Cytogenet. 2015 Sep 2;8:70. doi: 10.1186/s13039-015-0172-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26336513 Free PMC article.
A familial t(4;8) translocation segregates with epilepsy and migraine with aura.
Crippa M, Malatesta P, Bonati MT, Trapasso F, Fortunato F, Annesi G, Larizza L, Labate A, Finelli P, Perrotti N, Gambardella A. Crippa M, et al. Among authors: malatesta p. Ann Clin Transl Neurol. 2020 May;7(5):855-859. doi: 10.1002/acn3.51040. Epub 2020 Apr 21. Ann Clin Transl Neurol. 2020. PMID: 32315120 Free PMC article.
99 results