Schneppenheim R - Search Results

1

Cribriform neuroepithelial tumor: molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome.

Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M. Johann PD, et al. Among authors: schneppenheim r. Brain Pathol. 2017 Jul;27(4):411-418. doi: 10.1111/bpa.12413. Epub 2016 Aug 11. Brain Pathol. 2017. PMID: 27380723 Free PMC article.

2

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.

Schneppenheim R, Lenk H, Obser T, Oldenburg J, Oyen F, Schneppenheim S, Schwaab R, Will K, Budde U. Schneppenheim R, et al. Among authors: schneppenheim s. Thromb Haemost. 2004 Jul;92(1):36-41. doi: 10.1160/TH04-02-0084. Thromb Haemost. 2004. PMID: 15213842

3

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

4

Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis.

Wetzstein V, Budde U, Oyen F, Ding X, Herrmann J, Liebig B, Schneppenheim R. Wetzstein V, et al. Among authors: schneppenheim r. Haematologica. 2006 Dec;91(12 Suppl):ECR60. Haematologica. 2006. PMID: 17194666

5

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.

Fischer-Maas L, Schneppenheim R, Oyen F, Grabhorn E, Richter A, Fischer L, Ganschow R. Fischer-Maas L, et al. Among authors: schneppenheim r. Pediatr Transplant. 2008 Nov;12(7):769-72. doi: 10.1111/j.1399-3046.2007.00900.x. Epub 2008 Jan 8. Pediatr Transplant. 2008. PMID: 18194353

6

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

Schneppenheim R, Schröder J, Obser T, Oyen F, Schneppenheim S, Oldenburg J. Schneppenheim R, et al. Among authors: schneppenheim s. Hamostaseologie. 2009 May;29(2):158-60. Hamostaseologie. 2009. PMID: 19404520

7

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

8

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

9

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

10

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.

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