Clinical and laboratory phenotype variability in type 2M von Willebrand disease
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L. Boggio | P. Christopherson | A. Shapiro | S. Gupta | S. Lentz | S. Haberichter | V. Flood | R. Montgomery | A. L. Doruelo | P. A. Christopherson | L. N. Boggio
[1] J. Di Paola,et al. Variable bleeding phenotype in an Amish pedigree with von Willebrand disease , 2016, American journal of hematology.
[2] James C. Campbell,et al. Mutational Constraints on Local Unfolding Inhibit the Rheological Adaptation of von Willebrand Factor* , 2015, The Journal of Biological Chemistry.
[3] Junmei Chen,et al. Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease. , 2015, Blood.
[4] D. Bellissimo,et al. Crucial role for the VWF A1 domain in binding to type IV collagen. , 2015, Blood.
[5] A. Chan,et al. Evaluation of an automated method for measuring von Willebrand factor activity in clinical samples without ristocetin , 2014, International journal of laboratory hematology.
[6] S. Diamond,et al. Microfluidic assay of hemophilic blood clotting: distinct deficits in platelet and fibrin deposition at low factor levels , 2014, Journal of thrombosis and haemostasis : JTH.
[7] J. Gill,et al. Variability in platelet‐ and collagen‐binding defects in type 2M von Willebrand disease , 2013, Haemophilia : the official journal of the World Federation of Hemophilia.
[8] R. Hoffmann,et al. Collagen binding provides a sensitive screen for variant von Willebrand disease. , 2013, Clinical chemistry.
[9] J. Gill,et al. Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage. , 2012, Blood.
[10] P. Mannucci,et al. Different bleeding risk in type 2A and 2M von Willebrand disease: a 2‐year prospective study in 107 patients , 2012, Journal of thrombosis and haemostasis : JTH.
[11] D. Bellissimo,et al. VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. , 2012, Blood.
[12] E. Favaloro. Diagnosis and classification of von Willebrand disease: a review of the differential utility of various functional von Willebrand factor assays , 2011, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.
[13] R. Hoffmann,et al. Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD. , 2011, Blood.
[14] B. Coller,et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders , 2010, Journal of thrombosis and haemostasis : JTH.
[15] R. Hoffmann,et al. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. , 2010, Blood.
[16] R. Hoffmann,et al. Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD , 2010, Journal of thrombosis and haemostasis : JTH.
[17] J. Scott,et al. Limitations of the ristocetin cofactor assay in measurement of von Willebrand factor function , 2009, Journal of thrombosis and haemostasis : JTH.
[18] R. Montgomery,et al. Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage , 2009, Journal of thrombosis and haemostasis : JTH.
[19] P. James,et al. Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study , 2007, Journal of thrombosis and haemostasis : JTH.
[20] J. Goudemand,et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). , 2007, Blood.
[21] P. Mannucci,et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor , 2006, Journal of thrombosis and haemostasis : JTH.
[22] S. Kitchen,et al. Laboratory tests for measurement of von Willebrand factor show poor agreement among different centers: results from the United Kingdom National External Quality Assessment Scheme for Blood Coagulation. , 2006, Seminars in thrombosis and hemostasis.
[23] F. Haverkate,et al. An external quality assessment program for von Willebrand factor laboratory analysis: an overview from the European concerted action on thrombosis and disabilities foundation. , 2006, Seminars in thrombosis and hemostasis.
[24] J. Batlle,et al. von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia) , 2005, American journal of hematology.
[25] R. Liddington,et al. Crystal Structure of the von Willebrand Factor A1 Domain and Implications for the Binding of Platelet Glycoprotein Ib* , 1998, The Journal of Biological Chemistry.
[26] R. Montgomery,et al. Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets. , 1996, Blood.
[27] J. Rand,et al. 150-kD von Willebrand factor binding protein extracted from human vascular subendothelium is type VI collagen. , 1991, The Journal of clinical investigation.
[28] J. McPherson,et al. Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III. , 1987, The Journal of biological chemistry.
[29] K. Titani,et al. von Willebrand factor. A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib. , 1986, The Journal of biological chemistry.