References
- Corrales I, Ramirez L, Altisent C, Parra R, Vidal F. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost 2009;101:570–576. Epub 2009/ 03/12. doi:https://doi.org/10.1160/TH08-08-0500
- Borras N, Batlle J, Perez-Rodriguez A, Lopez-Fernandez MF, Rodriguez-Trillo A, Loures E, Cid AR, Bonanad S, Cabrera N, Moret A, et al. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica 2017;102:2005–2014. Epub 2017/ 10/04. doi:https://doi.org/10.3324/haematol.2017.168765
- James PD, Notley C, Hegadorn C, Poon MC, Walker I, Rapson D, Lillicrap D. Association of hemophilia clinic directors of C. Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study. J Thromb Haemost 2007;5:1914–1922. Epub 2007/ 06/29. doi:https://doi.org/10.1111/j.1538-7836.2007.02666.x
- Vidal F, Julia A, Altisent C, Puig L, Gallardo D. Von Willebrand gene tracking by single-tube automated fluorescent analysis of four short tandem repeat polymorphisms. Thromb Haemost 2005;93:976–981. Epub 2005/ 05/12. doi:https://doi.org/10.1160/TH04-10-0699
- Wang JW, Groeneveld DJ, Cosemans G, Dirven RJ, Valentijn KM, Voorberg J, Reitsma PH, Eikenboom J. Biogenesis of Weibel-Palade bodies in von Willebrand’s disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation. Haematologica 2012;97:859–866. Epub 2011/ 12/31. doi:https://doi.org/10.3324/haematol.2011.057216
- Lenting PJ, Christophe OD, Denis CV. von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends. Blood 2015;125:2019–2028. Epub 2015/ 02/26. doi:https://doi.org/10.1182/blood-2014-06-528406
- Ahmad S, Ptashkin B, DiGiovanni C, Cines DB, Konkle BA, Cuker A. False normal von Willebrand factor activity by monoclonal antibody-based ELISA in a patient with type 2A(IID) von Willebrand disease. Thromb Haemost 2011;106:1224–1225. Epub 2011/ 10/08. doi:https://doi.org/10.1160/TH11-07-0484
- Murdock PJ, Woodhams BJ, Matthews KB, Pasi KJ, Goodall AH. von Willebrand factor activity detected in a monoclonal antibody-based ELISA: an alternative to the ristocetin cofactor platelet agglutination assay for diagnostic use. Thromb Haemost 1997;78:1272–1277. Epub 1997/ 11/19. doi:https://doi.org/10.1055/s-0038-1657727
- Goodeve A. Diagnosing von Willebrand disease: genetic analysis. Hematol Am Soc Hematol Educ Prog 2016;2016:678–682. Epub 2016/ 12/04. doi:https://doi.org/10.1182/asheducation-2016.1.678
- Favaloro EJ. Diagnosis of type 1 vs. 2A and 2M von Willebrand disease. Haemophilia 2012;18:e9–11. Epub 2011/ 08/05. doi:https://doi.org/10.1111/j.1365-2516.2011.02628.x
- Castaman G, Hillarp a, Goodeve a. Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis. Haemophilia 2014;20(Suppl 4):65–70. Epub 2014/ 04/26. doi:https://doi.org/10.1111/hae.12410
- Kasatkar P, Shetty S, Ghosh K. High prevalence of arginine hot spot mutations in Indian severe VWD patients. Haematologica-the Hematol J 2010;95:297.
- Keesler DA, Flood VH. Current issues in diagnosis and treatment of von Willebrand disease. Res Pract Thromb Haemost 2018;2:34–41. Epub 2018/ 07/27. doi:https://doi.org/10.1002/rth2.12064