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Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Among authors: severino m. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.
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
Midbrain-hindbrain involvement in septo-optic dysplasia.
Severino M, Allegri AE, Pistorio A, Roviglione B, Di Iorgi N, Maghnie M, Rossi A. Severino M, et al. AJNR Am J Neuroradiol. 2014 Aug;35(8):1586-92. doi: 10.3174/ajnr.A3959. Epub 2014 Apr 24. AJNR Am J Neuroradiol. 2014. PMID: 24763416 Free PMC article.
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
401 results