von Willebrand Disease: Molecular Aspects

H. YADEGARI, J. DRIESEN, M. HASS, U. BUDDE, A. PAVLOVA, J. OLDENBURG, Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification. Journal of Thrombosis and Haemostasis. ,vol. 9, pp. 1083- 1086 ,(2011) , 10.1111/J.1538-7836.2011.04260.X

J. D. ROBERTSON, P. R. YENSON, M. L. RAND, V. S. BLANCHETTE, M. D. CARCAO, C. NOTLEY, D. LILLICRAP, P. D. JAMES, Expanded phenotype-genotype correlations in a pediatric population with type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis. ,vol. 9, pp. 1752- 1760 ,(2011) , 10.1111/J.1538-7836.2011.04423.X

Jean-Maurice Lavergne, Irène Juhan-Vague, Bernadette Obert, Ghislaine Cherel, Dominique Meyer, Jean-Pierre Girma, Anne-Sophie Ribba, Irmine Loisel, Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen. Thrombosis and Haemostasis. ,vol. 86, pp. 848- 854 ,(2001) , 10.1055/S-0037-1616142

Giancarlo Castaman, Hans Vos, Rogier Bertina, Francesco Rodeghiero, Jeroen Eikenboom, Characterization of the Genetic Defects in Recessive Type 1 and Type 3 von Willebrand Disease Patients of Italian Origin Thrombosis and Haemostasis. ,vol. 79, pp. 709- 717 ,(1998) , 10.1055/S-0037-1615050

Alexander Hamilton, Margareth Ozelo, Jayne Leggo, Colleen Notley, Hannah Brown, Juan Pablo Frontroth, Anne Angelillo-Scherrer, Fariba Baghaei, Said Enayat, Emmanuel Favaloro, David Lillicrap, Maha Othman, Frequency of Platelet type versus Type 2B von Willebrand Disease: An international registry-based study web science. ,vol. 105, pp. 501- 508 ,(2011) , 10.1160/TH10-08-0523

J. A. DAVIES, P. W. COLLINS, L. S. HATHAWAY, D. J. BOWEN, von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood group. Journal of Thrombosis and Haemostasis. ,vol. 6, pp. 97- 103 ,(2007) , 10.1111/J.1538-7836.2007.02809.X

D. KEELING, J. BEAVIS, R. MARR, K. SUKHU, P. BIGNELL, A family with type 2M VWD with normal VWF:RCo but reduced VWF:CB and a M1761K mutation in the A3 domain. Haemophilia. ,vol. 18, ,(2012) , 10.1111/J.1365-2516.2011.02676.X

P. K. Gupta, E. Adamtziki, U. Budde, M. Jaiprakash, H. Kumar, A. Harbeck-Seu, M. Kannan, F. Oyen, T. Obser, I. Wedekind, R. Saxena, R. Schneppenheim, Gene conversions are a common cause of von Willebrand disease. British Journal of Haematology. ,vol. 130, pp. 752- 758 ,(2005) , 10.1111/J.1365-2141.2005.05660.X

L Holmberg, J A Dent, R Schneppenheim, U Budde, J Ware, Z M Ruggeri, von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. Journal of Clinical Investigation. ,vol. 91, pp. 2169- 2177 ,(1993) , 10.1172/JCI116443

Megan S. Sutherland, Anthony M. Cumming, Mackenzie Bowman, Paula H. B. Bolton-Maggs, Derrick J. Bowen, Peter W. Collins, Charles R. M. Hay, Andrew M. Will, Stephen Keeney, A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3 Blood. ,vol. 114, pp. 1091- 1098 ,(2009) , 10.1182/BLOOD-2008-08-173278