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Journal Abstract Search

283 related items for PubMed ID: 29734512

  • 1. Correction of a dominant-negative von Willebrand factor multimerization defect by small interfering RNA-mediated allele-specific inhibition of mutant von Willebrand factor.
    de Jong A, Dirven RJ, Oud JA, Tio D, van Vlijmen BJM, Eikenboom J.
    J Thromb Haemost; 2018 Jul; 16(7):1357-1368. PubMed ID: 29734512
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  • 2. Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
    de Jong A, Dirven RJ, Boender J, Atiq F, Anvar SY, Leebeek FWG, van Vlijmen BJM, Eikenboom J.
    Thromb Haemost; 2020 Nov; 120(11):1569-1579. PubMed ID: 32803740
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  • 6. Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
    Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Semin Thromb Hemost; 2005 Nov; 31(5):577-601. PubMed ID: 16276467
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  • 7. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Nov; 121(2-3):71-84. PubMed ID: 19506352
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  • 8. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE.
    Blood; 1996 Oct 01; 88(7):2433-41. PubMed ID: 8839833
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  • 10. Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.
    Chen J, Hinckley JD, Haberichter S, Jacobi P, Montgomery R, Flood VH, Wong R, Interlandi G, Chung DW, López JA, Di Paola J.
    Blood; 2015 Jul 09; 126(2):262-9. PubMed ID: 26019279
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  • 11. Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
    Michiels JJ, van Vliet HH.
    Acta Haematol; 2009 Jul 09; 121(2-3):154-66. PubMed ID: 19506362
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  • 12. The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
    Bowman M, Tuttle A, Notley C, Brown C, Tinlin S, Deforest M, Leggo J, Blanchette VS, Lillicrap D, James P, Association of Hemophilia Clinic Directors of Canada.
    J Thromb Haemost; 2013 Mar 09; 11(3):512-20. PubMed ID: 23311757
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  • 14. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan 09; 75(1):9-18. PubMed ID: 11843298
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  • 16. Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin?
    Favaloro EJ.
    Semin Thromb Hemost; 2008 Feb 09; 34(1):113-27. PubMed ID: 18393148
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  • 17. Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
    Borràs N, Garcia-Martínez I, Batlle J, Pérez-Rodríguez A, Parra R, Altisent C, López-Fernández MF, Costa Pinto J, Batlle-López F, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Del Mar Nieto M, Vidal R, Martínez MP, Aguinaco R, Tenorio M, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Corrales I, Vidal F.
    Thromb Haemost; 2020 Mar 09; 120(3):437-448. PubMed ID: 32135566
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  • 18. Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder.
    Othman M.
    Semin Thromb Hemost; 2011 Jul 09; 37(5):464-9. PubMed ID: 22102188
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  • 19. 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.
    Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR.
    Blood; 1996 Oct 01; 88(7):2559-68. PubMed ID: 8839848
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  • 20. von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.
    Yadegari H, Biswas A, Ahmed S, Naz A, Oldenburg J.
    Hum Mutat; 2021 Jun 01; 42(6):731-744. PubMed ID: 33942438
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