메뉴 건너뛰기




Volumn 95, Issue 11, 2016, Pages

A laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von willebrand disease: A new epidemiologic picture

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; GLYCOPROTEIN IB; VON WILLEBRAND FACTOR;

EID: 84962023354     PISSN: 00257974     EISSN: 15365964     Source Type: Journal    
DOI: 10.1097/MD.0000000000003038     Document Type: Article
Times cited : (56)

References (57)
  • 1
    • 84878242257 scopus 로고    scopus 로고
    • Von Willebrand factor in its native environment
    • Sadler JE. Von Willebrand factor in its native environment. Blood. 2013;121:2583-2584.
    • (2013) Blood , vol.121 , pp. 2583-2584
    • Sadler, J.E.1
  • 2
    • 84864055963 scopus 로고    scopus 로고
    • Sequence and structure relationships within von Willebrand factor
    • Zhou YF, Eng ET, Zhu J, et al. Sequence and structure relationships within von Willebrand factor. Blood. 2012;120:449-458.
    • (2012) Blood , vol.120 , pp. 449-458
    • Zhou, Y.F.1    Eng, E.T.2    Zhu, J.3
  • 3
    • 84926140659 scopus 로고    scopus 로고
    • Von Willebrand factor biosyn thesis secretion, and clearance: Connecting the far ends
    • Lenting PJ, Christophe OD, Denis CV. Von Willebrand factor biosynthesis, secretion, and clearance: connecting the far ends. Blood. 2015;125:2019-2028.
    • (2015) Blood , vol.125 , pp. 2019-2028
    • Lenting, P.J.1    Christophe, O.D.2    Denis, C.V.3
  • 4
    • 77952581903 scopus 로고    scopus 로고
    • The genetic basis of von Willebrand disease
    • Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010;24:123-134.
    • (2010) Blood Rev , vol.24 , pp. 123-134
    • Goodeve, A.C.1
  • 5
    • 79955892713 scopus 로고    scopus 로고
    • Von Willebrand disease
    • James PD, Goodeve AC. Von Willebrand disease. Genet Med. 2011;13:365-376.
    • (2011) Genet Med , vol.13 , pp. 365-376
    • James, P.D.1    Goodeve, A.C.2
  • 6
    • 14544302314 scopus 로고    scopus 로고
    • New concepts in von Willebrand disease
    • Sadler JE. New concepts in von Willebrand disease. Annu Rev Med. 2005;56:173-191.
    • (2005) Annu Rev Med , vol.56 , pp. 173-191
    • Sadler, J.E.1
  • 7
    • 84874190092 scopus 로고    scopus 로고
    • Current diagnostic and therapeutic approaches to patients with acquired von Willebrand syndrome: A 2013 update
    • Federici AB, Budde U, Castaman G, et al. Current diagnostic and therapeutic approaches to patients with acquired von Willebrand syndrome: a 2013 update. Semin Thromb Haemost. 2013;39: 191-201.
    • (2013) Semin Thromb Haemost. , vol.39 , pp. 191-201
    • Federici, A.B.1    Budde, U.2    Castaman, G.3
  • 8
    • 84916221619 scopus 로고    scopus 로고
    • The diagnosis and management of von Willebrand disease: A United Kingdom Haemophilia Centre Doctors' Organisation guideline approved by the British Committee for Standards in Haematology
    • Laffan MA, Lester W, O'Donnell JS, et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors' Organisation guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014;167:453-465.
    • (2014) Br J Haematol , vol.167 , pp. 453-465
    • Laffan, M.A.1    Lester, W.2    O'Donnell, J.S.3
  • 9
    • 33748802581 scopus 로고    scopus 로고
    • Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand Factor
    • Sadler JE, Budde U, Eikenboom JC, et al. Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-2114.
    • (2006) J Thromb Haemost , vol.4 , pp. 2103-2114
    • Sadler, J.E.1    Budde, U.2    Eikenboom, J.C.3
  • 10
    • 77949445945 scopus 로고    scopus 로고
    • Low von Willebrand factor: Sometimes a risk factor and sometimes a disease
    • Sadler JE. Low von Willebrand factor: sometimes a risk factor and sometimes a disease. Hematology Am Soc Hematol Educ Program. 2009:106-112.
    • (2009) Hematology Am Soc Hematol Educ Program , pp. 106-112
    • Sadler, J.E.1
  • 11
    • 33845967766 scopus 로고    scopus 로고
    • 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)
    • Goodeve A, Eikenboom J, Castaman G, 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). Blood. 2007;109: 112-121.
    • (2007) Blood , vol.109 , pp. 112-121
    • Goodeve, A.1    Eikenboom, J.2    Castaman, G.3
  • 12
    • 84886395616 scopus 로고    scopus 로고
    • Alloantibodies in von Willebrand disease
    • James PD, Lillicrap D, Mannucci PM. Alloantibodies in von Willebrand disease. Blood. 2013;122:636-640.
    • (2013) Blood , vol.122 , pp. 636-640
    • James, P.D.1    Lillicrap, D.2    Mannucci, P.M.3
  • 13
    • 84922351654 scopus 로고    scopus 로고
    • How i treat type 2 variant forms of von Willebrand disease
    • Tosetto A, Castaman G. How I treat type 2 variant forms of von Willebrand disease. Blood. 2015;125:907-914.
    • (2015) Blood , vol.125 , pp. 907-914
    • Tosetto, A.1    Castaman, G.2
  • 14
    • 84861068515 scopus 로고    scopus 로고
    • Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS13 susceptibility, and regulated storage
    • Jacobi PM, Gill GC, Flood VH, et al. Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS13 susceptibility, and regulated storage. Blood. 2012;119:4543-4553.
    • (2012) Blood , vol.119 , pp. 4543-4553
    • Jacobi, P.M.1    Gill, G.C.2    Flood, V.H.3
  • 15
    • 42149174873 scopus 로고    scopus 로고
    • Prevalence of type 2B "malmö/New York" von Willebrand disease in Italy: The role of von Willebrand factor gene conversion
    • Baronciani L, Federici AB, Castaman G, et al. Prevalence of type 2B "Malmö/New York" von Willebrand disease in Italy: the role of von Willebrand factor gene conversion. J Thromb Haemost. 2008;6:887-890.
    • (2008) J Thromb Haemost , vol.6 , pp. 887-890
    • Baronciani, L.1    Federici, A.B.2    Castaman, G.3
  • 16
    • 77954466579 scopus 로고    scopus 로고
    • Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza
    • Gezsi A, Budde U, Deak I, et al. Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza. J Thromb Haemost. 2010;8:1273-1280.
    • (2010) J Thromb Haemost , vol.8 , pp. 1273-1280
    • Gezsi, A.1    Budde, U.2    Deak, I.3
  • 17
    • 84926142676 scopus 로고    scopus 로고
    • Diagnostic approach to von Willebrand disease
    • Ng C, Motto DG, Di Paola J. Diagnostic approach to von Willebrand disease. Blood. 2015;125:2029-2037.
    • (2015) Blood , vol.125 , pp. 2029-2037
    • Ng, C.1    Motto, D.G.2    Di Paola, J.3
  • 18
    • 84921893335 scopus 로고    scopus 로고
    • Von Willebrand disease: Advances in pathogenic understanding diagnosis and therapy
    • Lillicrap D. Von Willebrand disease: advances in pathogenic understanding, diagnosis, and therapy. Hematology Am Soc Hematol Educ Program. 2013;2013:254-260.
    • (2013) Hematology Am Soc Hematol Educ Program , vol.2013 , pp. 254-260
    • Lillicrap, D.1
  • 19
    • 84877929463 scopus 로고    scopus 로고
    • VWF propeptide and ratios between VWF VWF propeptide, and the FVIII in the characterization of type 1 von Willebrand disease
    • Eikenboom J, Federici AB, Dirven RJ, et al. MCMDM-1VWD Study Group. VWF propeptide and ratios between VWF, VWF propeptide, and the FVIII in the characterization of type 1 von Willebrand disease. Blood. 2013;121:2336-2339.
    • (2013) Blood , vol.121 , pp. 2336-2339
    • Eikenboom, J.1    Federici, A.B.2    Dirven, R.J.3
  • 20
    • 77954496769 scopus 로고    scopus 로고
    • Absent collagen binding in a VWF A3 domain mutant: Utility of the VWF:CB in diagnosis of VWD
    • Flood VH, Lederman CA, Wren JS, et al. Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD. J Thromb Haemost. 2010;8:1431-1433.
    • (2010) J Thromb Haemost , vol.8 , pp. 1431-1433
    • Flood, V.H.1    Lederman, C.A.2    Wren, J.S.3
  • 21
    • 84899516238 scopus 로고    scopus 로고
    • Genetic testing in bleeding disorders
    • De Brasi C, El-Maari O, Perry DJ, et al. Genetic testing in bleeding disorders. Haemophilia. 2014;20(Suppl. 4):54-58.
    • (2014) Haemophilia , vol.20 , pp. 54-58
    • De Brasi, C.1    El-Maari, O.2    Perry, D.J.3
  • 22
    • 51249102362 scopus 로고    scopus 로고
    • The molecular analysis of von Willebrand disease: A guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network
    • Keeney S, Bowen D, Cumming A, et al., UK Haemophilia Centre Doctors' Organisation (UKHCDO). The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia. 2008;14:1099-1111.
    • (2008) Haemophilia , vol.14 , pp. 1099-1111
    • Keeney, S.1    Bowen, D.2    Cumming, A.3
  • 23
    • 84896713722 scopus 로고    scopus 로고
    • Platelet-type von Willebrand disease: Toward an improved understanding of the "sticky situation"
    • Othman M, Emsley J. Platelet-type von Willebrand disease: toward an improved understanding of the "sticky situation". Semin Thromb Hemost. 2014;40:146-150.
    • (2014) Semin Thromb Hemost , vol.40 , pp. 146-150
    • Othman, M.1    Emsley, J.2
  • 24
    • 43549097149 scopus 로고    scopus 로고
    • Response to desmopressin is influenced by the genotype and the phenotype in type 1 von Willebrand disease (VWD): Results from the European Study MCMDM-1 VWD
    • Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and the phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1 VWD. Blood. 2008;111:3531-3539.
    • (2008) Blood , vol.111 , pp. 3531-3539
    • Castaman, G.1    Lethagen, S.2    Federici, A.B.3
  • 25
    • 0023164845 scopus 로고
    • Epidemiological investigation of the prevalence of von Willebrand's disease
    • Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987;69: 454-459.
    • (1987) Blood , vol.69 , pp. 454-459
    • Rodeghiero, F.1    Castaman, G.2    Dini, E.3
  • 26
    • 0027458101 scopus 로고
    • Prevalence of von Willebrand disease in children: A multiethnic study
    • Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr. 1993;123:893-898.
    • (1993) J Pediatr , vol.123 , pp. 893-898
    • Werner, E.J.1    Broxson, E.H.2    Tucker, E.L.3
  • 27
    • 0032519496 scopus 로고    scopus 로고
    • Screening for von Willebrand disease with a new analyzer using high shear stress: A study of 60 cases
    • Fressinaud E, Veyradier A, Truchaud F, et al. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood. 1998;91:1325-1331.
    • (1998) Blood , vol.91 , pp. 1325-1331
    • Fressinaud, E.1    Veyradier, A.2    Truchaud, F.3
  • 28
    • 33746582792 scopus 로고    scopus 로고
    • Laboratory testing for von Willebrand disease: Contribution of multimer analysis to diagnosis and classification
    • Budde U, Pieconka A, Will K, et al. Laboratory testing for von Willebrand disease: contribution of multimer analysis to diagnosis and classification. Semin Thromb Hemost. 2006;32:514-521.
    • (2006) Semin Thromb Hemost , vol.32 , pp. 514-521
    • Budde, U.1    Pieconka, A.2    Will, K.3
  • 29
    • 33646679113 scopus 로고    scopus 로고
    • Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: Performance in patients with type 2B von Willebrand disease
    • Caron C, Hilbert L, Vanhoorelbeke K, et al. Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: performance in patients with type 2B von Willebrand disease. Br J Haematol. 2006;133:655-663.
    • (2006) Br J Haematol , vol.133 , pp. 655-663
    • Caron, C.1    Hilbert, L.2    Vanhoorelbeke, K.3
  • 30
    • 0033985083 scopus 로고    scopus 로고
    • Collagen binding assay for von Willebrand factor (VWF: CBA): Detection of von Willebrand disease (VWD) and discrimination of VWD subtypes depends on collagen source
    • Favaloro EJ. Collagen binding assay for von Willebrand factor (VWF: CBA): detection of von Willebrand disease (VWD) and discrimination of VWD subtypes, depends on collagen source. Thromb Haemost. 2000;83:127-135.
    • (2000) Thromb Haemost , vol.83 , pp. 127-135
    • Favaloro, E.J.1
  • 31
    • 0036098759 scopus 로고    scopus 로고
    • Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents
    • Caron C, Mazurier C, Goudemand J. Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents. Br J Haematol. 2002;117:716-718.
    • (2002) Br J Haematol , vol.117 , pp. 716-718
    • Caron, C.1    Mazurier, C.2    Goudemand, J.3
  • 32
    • 46749133213 scopus 로고    scopus 로고
    • Identification of type 1 von Willebrand disease with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD)
    • Haberichter SL, Castaman G, Budde U, et al. Identification of type 1 von Willebrand disease with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). Blood. 2008;111:4979-4985.
    • (2008) Blood , vol.111 , pp. 4979-4985
    • Haberichter, S.L.1    Castaman, G.2    Budde, U.3
  • 33
    • 84903647813 scopus 로고    scopus 로고
    • The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease
    • Federici AB, Bucciarelli P, Castaman G, et al. The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease. Blood. 2014;123:4037-4044.
    • (2014) Blood , vol.123 , pp. 4037-4044
    • Federici, A.B.1    Bucciarelli, P.2    Castaman, G.3
  • 34
    • 81755171909 scopus 로고    scopus 로고
    • The diagnosis and management of von Willebrand disease in Canada
    • James PD, Lillicrap D. The diagnosis and management of von Willebrand disease in Canada. Semin Thromb Haemost. 2011;37:522-527.
    • (2011) Semin Thromb Haemost , vol.37 , pp. 522-527
    • James, P.D.1    Lillicrap, D.2
  • 35
    • 81755171917 scopus 로고    scopus 로고
    • Von Willebrand disease in the United States: A perspective from Wisconsin
    • Flood VH, Gill JC, Bellissimo DB, et al. Von Willebrand disease in the United States: a perspective from Wisconsin. Semin Thromb Haemost. 2011;37:528-534.
    • (2011) Semin Thromb Haemost , vol.37 , pp. 528-534
    • Flood, V.H.1    Gill, J.C.2    Bellissimo, D.B.3
  • 36
    • 84867246111 scopus 로고    scopus 로고
    • Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients
    • Yadegari H, Driesen J, Pavlova A, et al. Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. Thromb Haemost. 2012;108:662-671.
    • (2012) Thromb Haemost , vol.108 , pp. 662-671
    • Yadegari, H.1    Driesen, J.2    Pavlova, A.3
  • 37
    • 84929167540 scopus 로고    scopus 로고
    • Von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease
    • Sanders YV, Groeneveld D, Meijer K, et al. WIN study group. Von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease. Blood. 2015;125:3006-3013.
    • (2015) Blood , vol.125 , pp. 3006-3013
    • Sanders, Y.V.1    Groeneveld, D.2    Meijer, K.3
  • 38
    • 84961999461 scopus 로고    scopus 로고
    • Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm
    • (6.) Epub ahead of print
    • Battle J, Perez-Rodriguez A, Corrales I, et al. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): proposal for a new diagnostic paradigm. Thromb Haemost. 2015;114 (6.)Epub ahead of print.
    • (2015) Thromb Haemost , vol.114
    • Battle, J.1    Perez-Rodriguez, A.2    Corrales, I.3
  • 39
    • 84874968522 scopus 로고    scopus 로고
    • Association of Hemophilia Clinic Directors of Canada. The genetics of Canadian type 3 von Willebrand disease: Further evidence for co-dominant of mutant alleles
    • Bowman M, Tuttle A, Notley C, et al. Association of Hemophilia Clinic Directors of Canada. The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant of mutant alleles. J Thromb Haemost. 2013;11:512-520.
    • (2013) J Thromb Haemost , vol.11 , pp. 512-520
    • Bowman, M.1    Tuttle, A.2    Notley, C.3
  • 40
    • 69949099132 scopus 로고    scopus 로고
    • The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England
    • Sutherland MS, Keeney S, Bolton-Maggs PH, et al. The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England. Haemophilia. 2009;15:1048-1057.
    • (2009) Haemophilia , vol.15 , pp. 1048-1057
    • Sutherland, M.S.1    Keeney, S.2    Bolton-Maggs, P.H.3
  • 41
    • 84865397258 scopus 로고    scopus 로고
    • Molecular characterization recombinant protein expression and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients
    • Solimando M, Baronciani L, La Marca S, et al. Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: studies of an Italian cohort of 10 patients. Am J Hematol. 2012;87:870-874.
    • (2012) Am J Hematol , vol.87 , pp. 870-874
    • Solimando, M.1    Baronciani, L.2    La Marca, S.3
  • 42
    • 69949099126 scopus 로고    scopus 로고
    • Molecular characterization of Iranian patients with type 3 von Willebrand disease
    • Shahbazi S, Mahdian R, Ala FA, et al. Molecular characterization of Iranian patients with type 3 von Willebrand disease. Haemophilia. 2009;15:1058-1064.
    • (2009) Haemophilia , vol.15 , pp. 1058-1064
    • Shahbazi, S.1    Mahdian, R.2    Ala, F.A.3
  • 43
    • 84899856983 scopus 로고    scopus 로고
    • Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients
    • Kasatkar P, Shetty S, Ghosh K. Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients. PLoS One. 2014;9:e92575.
    • (2014) PLoS One , vol.9 , pp. e92575
    • Kasatkar, P.1    Shetty, S.2    Ghosh, K.3
  • 44
    • 33846026307 scopus 로고    scopus 로고
    • The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
    • James PD, Notley C, Hegadom C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study Blood. 2007;109:145-154.
    • (2007) Blood , vol.109 , pp. 145-154
    • James, P.D.1    Notley, C.2    Hegadom, C.3
  • 45
    • 67949124719 scopus 로고    scopus 로고
    • Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study
    • Eikenboom J, Hilbert L, Ribba AS, et al. Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. J Thromb Haemost. 2009;7:1304-1312.
    • (2009) J Thromb Haemost , vol.7 , pp. 1304-1312
    • Eikenboom, J.1    Hilbert, L.2    Ribba, A.S.3
  • 46
    • 34250726088 scopus 로고    scopus 로고
    • Type 1 von Willebrand disease
    • Peake I, Goodeve A. Type 1 von Willebrand disease. J Thromb Haemost. 2007;5(Suppl. 1):7-11.
    • (2007) J Thromb Haemost , vol.5 , pp. 7-11
    • Peake, I.1    Goodeve, A.2
  • 47
    • 69949091880 scopus 로고    scopus 로고
    • A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3
    • Sutherland MS, Cumming AM, Bowman M, et al. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. Blood. 2009;114:1091-1098.
    • (2009) Blood , vol.114 , pp. 1091-1098
    • Sutherland, M.S.1    Cumming, A.M.2    Bowman, M.3
  • 48
    • 84886898848 scopus 로고    scopus 로고
    • VWF sequence variants: A data goldmine
    • Goodeve AC. VWF sequence variants: a data goldmine. Blood. 2013;122:471-473.
    • (2013) Blood , vol.122 , pp. 471-473
    • Goodeve, A.C.1
  • 49
    • 84872253535 scopus 로고    scopus 로고
    • Characterisation of mutations and molecular studies of type 2 von Willebrand disease
    • Ahmad F, Jan R, Kannan M, et al. Characterisation of mutations and molecular studies of type 2 von Willebrand disease. Thromb Haemost. 2013;109:39-46.
    • (2013) Thromb Haemost , vol.109 , pp. 39-46
    • Ahmad, F.1    Jan, R.2    Kannan, M.3
  • 50
    • 0030836531 scopus 로고    scopus 로고
    • Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene. INSERM network on molecular abnormalities in von Willebrand disease
    • Meyer D, Fressinaud E, Gaucher C, et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM network on molecular abnormalities in von Willebrand disease. Thromb Haemost. 1997;78:451-456.
    • (1997) Thromb Haemost , vol.78 , pp. 451-456
    • Meyer, D.1    Fressinaud, E.2    Gaucher, C.3
  • 51
    • 84859188454 scopus 로고    scopus 로고
    • Clinical laboratory and molecular markers of type 2 von Willebrand disease
    • In: Federici AB, Lee CA, Berntop E, Lillicrap D, Montgomery RR, eds Wiley-Blackwell
    • Meyer D, Fressinaud E, Mazurier C. Clinical laboratory and molecular markers of type 2 von Willebrand disease. In: Federici AB, Lee CA, Berntop E, Lillicrap D, Montgomery RR, eds. Vo n Willebrand disease: basic and clinical aspects. Wiley-Blackwell; 2011:137-147.
    • (2011) Von Willebrand Disease: Basic and Clinical Aspects , pp. 137-147
    • Meyer, D.1    Fressinaud, E.2    Mazurier, C.3
  • 52
    • 77954729239 scopus 로고    scopus 로고
    • A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: Type 2A/IIE
    • Schneppenheim R, Michiels JJ, Obser T, et al. A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE. Blood. 2010;115:4894-4901.
    • (2010) Blood , vol.115 , pp. 4894-4901
    • Schneppenheim, R.1    Michiels, J.J.2    Obser, T.3
  • 53
    • 77950967181 scopus 로고    scopus 로고
    • Abnormal VWF modifies megakaryocytopoiesis: Studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B
    • Nurden P, Gobbi G, Nurden A, et al. Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B. Blood. 2010;115:2649-2656.
    • (2010) Blood , vol.115 , pp. 2649-2656
    • Nurden, P.1    Gobbi, G.2    Nurden, A.3
  • 54
    • 84859169124 scopus 로고    scopus 로고
    • Different bleeding risk in type 2A and 2M von Willebrand disease: A 2-year prospective study in 107 patients
    • Castaman G, Federici AB, Tosetto A, et al. Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients. J Thromb Haemost. 2012;10:632-638.
    • (2012) J Thromb Haemost , vol.10 , pp. 632-638
    • Castaman, G.1    Federici, A.B.2    Tosetto, A.3
  • 55
    • 0034912338 scopus 로고    scopus 로고
    • Type 2N von Willebrand disease: Clinical manifestations pathophysiology laboratory diagnosis and molecular biology
    • Mazurier C, Goudemand J, Hilbert L, et al. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol. 2001;14:337-347.
    • (2001) Best Pract Res Clin Haematol , vol.14 , pp. 337-347
    • Mazurier, C.1    Goudemand, J.2    Hilbert, L.3
  • 56
    • 79958047896 scopus 로고    scopus 로고
    • The molecular basis of von Willebrand disease: The under investigated the unexpected and the overlooked
    • Hampshire DJ, Goodeve AC. The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked. Haematologica. 2011;96:798-800.
    • (2011) Haematologica , vol.96 , pp. 798-800
    • Hampshire, D.J.1    Goodeve, A.C.2
  • 57
    • 84937572618 scopus 로고    scopus 로고
    • New insights into genotype and phenotype of VWD
    • Flood VH. New insights into genotype and phenotype of VWD. Hematology Am Soc Hematol Educ Program. 2014;2014:531-535.
    • (2014) Hematology Am Soc Hematol Educ Program , vol.2014 , pp. 531-535
    • Flood, V.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.