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Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC.
Hasselblatt M, Thomas C, Federico A, Bens S, Hellström M, Casar-Borota O, Kordes U, Neumann JE, Dottermusch M, Rodriguez FJ, Lo AC, Cheng S, Hendson G, Hukin J, Hartmann C, Koch A, Capper D, Siebert R, Paulus W, Nemes K, Johann PD, Frühwald MC, Kool M. Hasselblatt M, et al. Among authors: fruhwald mc. Neuropathol Appl Neurobiol. 2022 Jun;48(4):e12797. doi: 10.1111/nan.12797. Epub 2022 Feb 18. Neuropathol Appl Neurobiol. 2022. PMID: 35152461
Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Schneppenheim R, et al. Among authors: fruhwald mc. Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137775 Free PMC article.
222 results