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Page 1
The clear cell sarcoma functional genomic landscape.
Panza E, Ozenberger BB, Straessler KM, Barrott JJ, Li L, Wang Y, Xie M, Boulet A, Titen SW, Mason CC, Lazar AJ, Ding L, Capecchi MR, Jones KB. Panza E, et al. J Clin Invest. 2021 Aug 2;131(15):e146301. doi: 10.1172/JCI146301. J Clin Invest. 2021. PMID: 34156976 Free PMC article.
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: panza e. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: panza e. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158
116 results