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318 related items for PubMed ID: 12393698
1. An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant. Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, Girolami A. Blood; 2003 Jan 01; 101(1):151-6. PubMed ID: 12393698 [Abstract] [Full Text] [Related]
2. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio. Gadisseur A, Berneman Z, Schroyens W, Michiels JJ. Acta Haematol; 2009 Jan 01; 121(2-3):128-38. PubMed ID: 19506359 [Abstract] [Full Text] [Related]
4. Laboratory diagnosis and molecular classification of von Willebrand disease. Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ. Acta Haematol; 2009 Jan 01; 121(2-3):71-84. PubMed ID: 19506352 [Abstract] [Full Text] [Related]
5. Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. Casonato A, Pontara E, Sartorello F, Bertomoro A, Durante C, Girolami A. J Lab Clin Med; 2001 Jan 01; 137(1):70-6. PubMed ID: 11150026 [Abstract] [Full Text] [Related]
12. Molecular genetics of type 2 von Willebrand disease. Fressinaud E, Mazurier C, Meyer D. Int J Hematol; 2002 Jan 01; 75(1):9-18. PubMed ID: 11843298 [Abstract] [Full Text] [Related]
13. Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect. Castaman G, Federici AB, Bernardi M, Moroni B, Bertoncello K, Rodeghiero F. J Thromb Haemost; 2006 Feb 01; 4(2):357-60. PubMed ID: 16420565 [Abstract] [Full Text] [Related]
15. Changes in factor VIII binding capacity of von Willebrand factor and factor VIII coagulant activity in two patients with type 2N von Willebrand disease after hemostatic treatment and during pregnancy. Nishino M, Nishino S, Sugimoto M, Shibata M, Tsuji S, Yoshioka A. Int J Hematol; 1996 Aug 01; 64(2):127-34. PubMed ID: 8854570 [Abstract] [Full Text] [Related]
16. Molecular genetics of von Willebrand disease. Mazurier C, Ribba AS, Gaucher C, Meyer D. Ann Genet; 1998 Aug 01; 41(1):34-43. PubMed ID: 9599650 [Abstract] [Full Text] [Related]
19. A new variant of von Willebrand's disease (type I Padua): doublet-organized plasma von Willebrand factor oligomers in the presence of all size multimers. Casonato A, Pontara E, Dannhäuser D, Bertomoro A, Sartori MT, Girolami A. Haematologia (Budap); 1994 Aug 01; 26(2):97-109. PubMed ID: 7890268 [Abstract] [Full Text] [Related]