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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
Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry.
Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S, Timmermann B, Kortmann RD, Koscielniak E, Schneppenheim R, Warmuth-Metz M, Gerß J, Siebert R, Graf N, Boos J, Frühwald MC. Seeringer A, et al. Among authors: siebert r. Klin Padiatr. 2014 May;226(3):143-8. doi: 10.1055/s-0034-1368719. Epub 2014 Mar 14. Klin Padiatr. 2014. PMID: 24633978
768 results