• 1
    Castaman G, Federici AB, Rodeghiero F, Mannucci PM. von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003; 88: 94108.
  • 2
    Murata M, Furihata K, Ishida F, Russell SR, Ware J, Ruggeri ZM. Genetic and structural characterization of an amino acid dimorphism in glycoprotein Ibα involved in platelet transfusion refractoriness. Blood 1992; 79: 308690.
  • 3
    Afshar-Kharghan V, Li CQ, Khoshnevis-Asl M, Lopez JA. Kozak sequence polymorphism of the glycoprotein (GP) Ibalpha gene is a major determinant of the plasma membrane levels of the platelet GP Ib- IX-V complex. Blood 1999; 94: 18691.
  • 4
    Croft SA, Samani NJ, Teare MD, Hampton KK, Steeds RP, Channer KS, Daly ME. Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction. Circulation 2001; 104: 145963.
  • 5
    Kritzik M, Savage B, Nugent DJ, Santoso S, Ruggeri ZM, Kunicki TJ. Nucleotide polymorphisms in the alpha 2 gene define multiple alleles which are associated with differences in platelet alpha 2 beta 1. Blood 1998; 92: 23828.
  • 6
    Reiner AP, Kumar PN, Schwartz SM, Longstreth WT Jr, Pearce RM, Rosendaal FR, Psaty BM, Siscovick DS. Genetic variants of platelet glycoprotein receptors and risk of stroke in young women. Stroke 2000; 31: 162833.
  • 7
    Newman PJ, Derbes RS, Aster RH. The human platelet alloantigens, PLA1 and PLA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. J Clin Invest 1989; 83: 177881.
  • 8
    Keightley AM, Lam YM, Brady JN, Cameron CL, Lillicrap D. Variation at the von Willebrand Factor (vWF) gene locus is associated with plasma vWF: Ag Levels: Identification of three novel single nucleotide polymorphisms in the vWF gene promoter. Blood 1999; 93: 427783.
  • 9
    Brull DJ, Dhamrait S, Moulding R, Rumley A, Lowe GD, World MJ, Humphries SE, Deanfield JE. The effect of fibrinogen genotype on fibrinogen levels after strenuous physical exercise. Thromb Haemost 2002; 87: 3741.
  • 10
    Humphries SE, Luong LA, Ogg MS, Hawe E, Miller GJ. The interleukin-6 -174 G/C promoter polymorphism is associated with risk of coronary heart disease and systolic blood pressure in healthy men. Eur Heart J 2001; 22: 224352.
  • 11
    Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 5205.
  • 12
    Kunicki TJ, Federici AB, Salomon DR, Koziol JA, Head SR, Mondala TS, Chismar JD, Baronciani L, Canciani MT, Peake IR. An association of candidate gene haplotypes and bleeding severity in Von Willebrand Disease (VWD) type 1 pedigrees. Blood 2004; 104: 235967.
  • 13
    Federici AB, Stabile F, Castaman G, Canciani MT, Mannucci PM. Treatment of acquired von Willebrand syndrome in patients with monoclonal gammopathy of uncertain significance: comparison of three different therapeutic approaches. Blood 1998; 92: 270711.
  • 14
    Federici AB, Canciani MT, Forza I, Mannucci PM, Marchese P, Ware J, Ruggeri ZM. A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Ibalpha for the diagnosis of patients with low von Willebrand factor levels. Haematologica 2004; 89: 7785.
  • 15
    Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, Mannucci PM. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 2003; 30: 26470.
  • 16
    Kunicki TJ, Head SR, Salomon DR. Platelet receptor structures and polymorphisms. In: GibbinsJM, Mahaut-SmithMP, eds. Platelets and Megakaryocytes. Volume 2: Perspectives and Techniques. Totowa, NJ: Humana Press Inc., 2004: 45578.
  • 17
    Lange K, Cantor R, Horvath S, Perola M, Sabatti C, Sinsheimer J, Sobel E. Mendel version 4.0: A complete package for the exact genetic analysis of discrete traits in pedigree and population data sets. Amer J Hum Genetics 2001; 69(Suppl.): A1886.
  • 18
    Lange K, Boehnke M. Extensions to pedigree analysis. IV. Covariance components models for multivariate traits. Am J Med Genet 1983; 14: 51324.
  • 19
    Li T, Ma X, Sham PC, Sun X, Hu X, Wang Q, Meng H, Deng W, Liu X, Murray RM, Collier DA. Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. Am J Med Genet B Neuropsychiatr Genet 2004; 129: 1315.
  • 20
    Schneppenheim R, Federici AB, Budde U, Castaman G, Drewke E, Krey S, Mannucci PM, Riesen G, Rodeghiero F, Zieger B, Zimmermann R. Von Willebrand Disease type 2M ‘Vicenza’ in Italian and German patients: identification of the first candidate mutation (G3864A;R1205H) in 8 families. Thromb Haemost 2000; 83: 13640.
  • 21
    Baronciani L, Federici AB, Beretta M, Cozzi G, Canciani MT, Mannucci PM. Biochemical characterization of recombinant VWF with a type 2B mutation (P1337L) coexpressed with type 1 VWF defect (C275R) in a patient previously diagnosed with type 2A VWD. Blood 2004; 104 (Abstract 1025): 293a.
  • 22
    Baronciani L, Federici AB, Cozzi G, Beretta M, Mistretta C, Canciani MT. In vitro expression study of a new mutation (R1308L) found in a family with type 2B vWD characterized by all set of multimers in plasma and no thrombocytopenia after desmopressin. Hematol J 2004; 6 (Abstract 281): S95.
  • 23
    Di Paola J, Jugessur A, Goldman T, Reiland J, Tallman D, Sayago C, Murray JC. Platelet glycoprotein Ibalpha and integrin alphabeta polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel. J Thromb Haemost 2005; 3: 151121.
  • 24
    Chen J, Diacovo TG, Grenache DG, Santoro SA, Zutter MM. The alpha(2) integrin subunit-deficient mouse: a multifaceted phenotype including defects of branching morphogenesis and hemostasis. Am J Pathol 2002; 161: 33744.
  • 25
    Li TT, Larrucea S, Souza S, Leal SM, Lopez JA, Rubin EM, Nieswandt B, Bray PF. Genetic variation responsible for mouse strain differences in integrin alpha2 expression is associated with altered platelet responses to collagen. Blood 2004; 103: 3396402.
  • 26
    Jacquelin B, Rozenshteyn D, Kanaji S, Koziol JA, Nurden AT, Kunicki TJ. Characterization of inherited differences in transcription of the human integrin alpha 2 gene. J Biol Chem 2001; 276: 2351824.
  • 27
    Moshfegh K, Wuillemin WA, Redondo M, Lammle B, Beer JH, Liechti-Gallati S, Meyer BJ. Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study. Lancet 1999; 353: 3514.
  • 28
    Santoso S, Kunicki TJ, Kroll H, Haberbosch W, Gardemann A. Association of the platelet glycoprotein Ia C807T gene polymorphism with myocardial infarction in younger patients. Blood 1999; 93: 244953.
  • 29
    Roest M, Banga JD, Grobbee DE, De Groot PG, Sixma JJ, Tempelman MJ, Van Der Schouw YT. Homozygosity for 807 T polymorphism in alpha(2) subunit of platelet alpha(2)beta(1) is associated with increased risk of cardiovascular mortality in high-risk women. Circulation 2000; 102: 164550.
  • 30
    Matsubara Y, Murata M, Maruyama T, Handa M, Yamagata N, Watanabe G, Saruta T, Ikeda Y. Association between diabetic retinopathy and genetic variations in alpha-2 beta-1 integrin, a platelet receptor for collagen. Blood 2000; 95: 15604.
  • 31
    Carlsson LE, Santoso S, Spitzer C, Kessler C, Greinacher A. The alpha 2 gene coding sequences T807/A873 of the platelet collagen receptor integrin alpha2 beta1 might be a genetic risk factor for the development of stroke in younger patients. Blood 1999; 93: 35836.