Schneppenheim R - Search Results

1

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.

2

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW. Schneppenheim R, et al. Blood. 2003 Mar 1;101(5):1845-50. doi: 10.1182/blood-2002-08-2399. Epub 2002 Oct 17. Blood. 2003. PMID: 12393505 Free article.

3

Severe ADAMTS-13 deficiency in childhood.

Schneppenheim R, Budde U, Hassenpflug W, Obser T. Schneppenheim R, et al. Semin Hematol. 2004 Jan;41(1):83-9. doi: 10.1053/j.seminhematol.2003.10.007. Semin Hematol. 2004. PMID: 14727263 Review.

4

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

5

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC. zur Stadt U, et al. Among authors: schneppenheim r. Hum Mol Genet. 2005 Mar 15;14(6):827-34. doi: 10.1093/hmg/ddi076. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703195

6

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

7

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.

Hassenpflug WA, Budde U, Obser T, Angerhaus D, Drewke E, Schneppenheim S, Schneppenheim R. Hassenpflug WA, et al. Among authors: schneppenheim s, schneppenheim r. Blood. 2006 Mar 15;107(6):2339-45. doi: 10.1182/blood-2005-04-1758. Epub 2005 Dec 1. Blood. 2006. PMID: 16322474 Free article.

8

A common origin of the 4143insA ADAMTS13 mutation.

Schneppenheim R, Kremer Hovinga JA, Becker T, Budde U, Karpman D, Brockhaus W, Hrachovinová I, Korczowski B, Oyen F, Rittich S, von Rosen J, Tjønnfjord GE, Pimanda JE, Wienker TF, Lämmle B. Schneppenheim R, et al. Thromb Haemost. 2006 Jul;96(1):3-6. doi: 10.1160/TH05-12-0817. Thromb Haemost. 2006. PMID: 16807643

9

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

10

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

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