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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.
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R. Brehm MA, et al. Among authors: schneppenheim s, schneppenheim r. Thromb Haemost. 2014 Jul 3;112(1):96-108. doi: 10.1160/TH13-11-0902. Epub 2014 Mar 6. Thromb Haemost. 2014. PMID: 24598842
Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.
Enayat MS, Ravanbod S, Rassoulzadegan M, Jazebi M, Ala F, Budde U, Schneppenheim S, Obser T, Schneppenheim R. Enayat MS, et al. Among authors: schneppenheim s, schneppenheim r. Haemophilia. 2013 Jul;19(4):e261-4. doi: 10.1111/hae.12161. Epub 2013 May 7. Haemophilia. 2013. PMID: 23647747 No abstract available.
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.
253 results