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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.
Clinical and genetic features of rhabdoid tumors of the heart registered with the European Rhabdoid Registry (EU-RHAB).
Bartelheim K, Sumerauer D, Behrends U, Kodetova D, Kucera F, Leuschner I, Neumayer P, Oyen F, Rübe C, Siebert R, Schneppenheim R, Seeringer A, Vasovcak P, Frühwald MC. Bartelheim K, et al. Among authors: siebert r. Cancer Genet. 2014 Sep;207(9):379-83. doi: 10.1016/j.cancergen.2014.04.005. Epub 2014 Apr 21. Cancer Genet. 2014. PMID: 24972932
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
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.
Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R. Hasselblatt M, et al. Among authors: siebert r. Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25. Acta Neuropathol. 2014. PMID: 25060813 No abstract available.
741 results