Schneppenheim R - Search Results

1

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: schneppenheim 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.

2

Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome.

Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J. Frühwald MC, et al. Among authors: schneppenheim r. Pediatr Blood Cancer. 2006 Sep;47(3):273-8. doi: 10.1002/pbc.20526. Pediatr Blood Cancer. 2006. PMID: 16206192

3

Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition.

Bug S, Dürig J, Oyen F, Klein-Hitpass L, Martin-Subero JI, Harder L, Baudis M, Arnold N, Kordes U, Dührsen U, Schneppenheim R, Siebert R. Bug S, et al. Among authors: schneppenheim r. Cancer Genet Cytogenet. 2009 Jul;192(1):44-7. doi: 10.1016/j.cancergencyto.2009.03.001. Cancer Genet Cytogenet. 2009. PMID: 19480937

4

Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R. Kordes U, et al. Among authors: schneppenheim r. Genes Chromosomes Cancer. 2010 Feb;49(2):176-81. doi: 10.1002/gcc.20729. Genes Chromosomes Cancer. 2010. PMID: 19902524

5

Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis.

Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald MC, Schneppenheim R, Siebert R, Paulus W. Hasselblatt M, et al. Among authors: schneppenheim r. J Neuropathol Exp Neurol. 2009 Dec;68(12):1249-55. doi: 10.1097/NEN.0b013e3181c06a51. J Neuropathol Exp Neurol. 2009. PMID: 19915490

6

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. 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.

7

Characterisation of two novel large F8 deletions in patients with severe haemophilia A and factor VIII inhibitors.

Roth L, Marschalek R, Oldenburg J, Oyen F, Schneppenheim R. Roth L, et al. Among authors: schneppenheim r. Thromb Haemost. 2011 Feb;105(2):279-84. doi: 10.1160/TH10-09-0570. Epub 2010 Nov 23. Thromb Haemost. 2011. PMID: 21103668

8

Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.

Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W. Hasselblatt M, et al. Among authors: schneppenheim r. Am J Surg Pathol. 2011 Jun;35(6):933-5. doi: 10.1097/PAS.0b013e3182196a39. Am J Surg Pathol. 2011. PMID: 21566516

9

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: schneppenheim 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

10

Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).

Kordes U, Bartelheim K, Modena P, Massimino M, Biassoni V, Reinhard H, Hasselblatt M, Schneppenheim R, Frühwald MC. Kordes U, et al. Among authors: schneppenheim r. Pediatr Blood Cancer. 2014 May;61(5):919-21. doi: 10.1002/pbc.24793. Epub 2013 Oct 3. Pediatr Blood Cancer. 2014. PMID: 24123847

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