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Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.
Mohl A, Boda Z, Jager R, Losonczy H, Marosi A, Masszi T, Nagy E, Nemes L, Obser T, Oyen F, Radványi G, Schlammadinger Á, Szélessy ZS, Várkonyi A, Vezendy K, Vilimi B, Schneppenheim R, Bodó I. Mohl A, et al. Among authors: schneppenheim r. J Thromb Haemost. 2011 May;9(5):945-52. doi: 10.1111/j.1538-7836.2011.04250.x. J Thromb Haemost. 2011. PMID: 21362127 Free article.
Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.
Obser T, Ledford-Kraemer M, Oyen F, Brehm MA, Denis CV, Marschalek R, Montgomery RR, Sadler JE, Schneppenheim S, Budde U, Schneppenheim R. Obser T, et al. Among authors: schneppenheim s, schneppenheim r. J Thromb Haemost. 2016 Sep;14(9):1725-35. doi: 10.1111/jth.13398. Epub 2016 Aug 20. J Thromb Haemost. 2016. PMID: 27344059 Free PMC article.
Gene conversions are a common cause of von Willebrand disease.
Gupta PK, Adamtziki E, Budde U, Jaiprakash M, Kumar H, Harbeck-Seu A, Kannan M, Oyen F, Obser T, Wedekind I, Saxena R, Schneppenheim R. Gupta PK, et al. Among authors: schneppenheim r. Br J Haematol. 2005 Sep;130(5):752-8. doi: 10.1111/j.1365-2141.2005.05660.x. Br J Haematol. 2005. PMID: 16115133 Free article.
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
Eikenboom J, Hilbert L, Ribba AS, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A. Eikenboom J, et al. Among authors: schneppenheim r. J Thromb Haemost. 2009 Aug;7(8):1304-12. doi: 10.1111/j.1538-7836.2009.03486.x. Epub 2009 Jun 30. J Thromb Haemost. 2009. PMID: 19566550 Free article.
Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis.
Baldauf C, Schneppenheim R, Stacklies W, Obser T, Pieconka A, Schneppenheim S, Budde U, Zhou J, Gräter F. Baldauf C, et al. Among authors: schneppenheim s, schneppenheim r. J Thromb Haemost. 2009 Dec;7(12):2096-105. doi: 10.1111/j.1538-7836.2009.03640.x. Epub 2009 Oct 8. J Thromb Haemost. 2009. PMID: 19817991 Free article.
254 results