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Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1.
Thomas C, Knerlich-Lukoschus F, Reinhard H, Johann PD, Sturm D, Sahm F, Bens S, Vogt J, Nemes K, Oyen F, Kordes U, Siebert R, Schneppenheim R, Messing-Jünger M, Pietsch T, von Deimling A, Paulus W, Pfister SM, Kool M, Frühwald MC, Hasselblatt M. Thomas C, et al. Among authors: siebert r. Acta Neuropathol. 2019 May;137(5):847-850. doi: 10.1007/s00401-019-02001-3. Epub 2019 Apr 3. Acta Neuropathol. 2019. PMID: 30945057 No abstract available.
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: siebert r. 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.
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors.
Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, Schneppenheim R, Frühwald M, Siebert R, Paulus W. Hasselblatt M, et al. Among authors: siebert r. Genes Chromosomes Cancer. 2013 Feb;52(2):185-90. doi: 10.1002/gcc.22018. Epub 2012 Oct 17. Genes Chromosomes Cancer. 2013. PMID: 23074045
758 results