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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Among authors: severino m. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Among authors: severino m. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.
Mascelli S, Raso A, Biassoni R, Severino M, Sak K, Joost K, Milanaccio C, Barra S, Grillo-Ruggieri F, Vanni I, Consales A, Cama A, Capra V, Nozza P, Garrè ML. Mascelli S, et al. Among authors: severino m. J Neurooncol. 2012 Sep;109(3):477-84. doi: 10.1007/s11060-012-0925-1. Epub 2012 Jul 22. J Neurooncol. 2012. PMID: 22821382
Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney).
Pio L, Milanaccio C, Mascelli S, Raso A, Nozza P, Sementa AR, Cama A, Buffa P, Avanzini S, Vannati M, Capra V, Lanino E, Rossi A, Morana G, Magnano GM, Severino M, Garrè ML. Pio L, et al. Among authors: severino m. Cancer Genet. 2014 Sep;207(9):441-4. doi: 10.1016/j.cancergen.2014.08.003. Epub 2014 Aug 24. Cancer Genet. 2014. PMID: 25442925
383 results