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Journal Abstract Search

206 related items for PubMed ID: 31240882

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  • 4. Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
    Lapić I, Radić Antolic M, Boban A, Coen Herak D, Rogić D, Zadro R.
    Croat Med J; 2022 Apr 30; 63(2):166-175. PubMed ID: 35505650
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  • 6. Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
    Hampshire DJ, Abuzenadah AM, Cartwright A, Al-Shammari NS, Coyle RE, Eckert M, Al-Buhairan AM, Messenger SL, Budde U, Gürsel T, Ingerslev J, Peake IR, Goodeve AC.
    Thromb Haemost; 2013 Aug 30; 110(2):264-74. PubMed ID: 23702511
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  • 8. 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 30; 120(3):437-448. PubMed ID: 32135566
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  • 9. Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
    Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.
    Clin Appl Thromb Hemost; 2006 Jul 30; 12(3):277-95. PubMed ID: 16959681
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  • 10. Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
    Atiq F, Heijdra J, Snijders F, Boender J, Kempers E, van Heerde WL, Maas DPMSM, Krouwel S, Schoormans SC, de Meris J, Schols SEM, van Galen KPM, van der Bom JG, Cnossen MH, Meijer K, Fijnvandraat K, Eikenboom J, Leebeek FWG.
    Blood Adv; 2022 Sep 27; 6(18):5317-5326. PubMed ID: 35446929
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  • 11. 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 Sep 27; 121(2-3):128-38. PubMed ID: 19506359
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  • 12. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
    Miller CH, Kelley L, Green D.
    Am J Hematol; 1998 Aug 27; 58(4):311-8. PubMed ID: 9692396
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  • 16. In vivo modulation of a dominant-negative variant in mouse models of von Willebrand disease type 2A.
    Campioni M, Legendre P, Loubiere C, Lunghi B, Pinotti M, Christophe OD, Lenting PJ, Denis CV, Bernardi F, Casari C.
    J Thromb Haemost; 2021 Jan 27; 19(1):139-146. PubMed ID: 33047469
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  • 17. Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24.
    Bowman ML, Pluthero FG, Tuttle A, Casey L, Li L, Christensen H, Robinson KS, Lillicrap D, Kahr WHA, James P.
    J Thromb Haemost; 2017 Jul 27; 15(7):1403-1411. PubMed ID: 28453889
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  • 19. Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.
    Kakela JK, Friedman KD, Haberichter SL, Buchholz NP, Christopherson PA, Kroner PA, Gill JC, Montgomery RR, Bellissimo DB.
    Mol Genet Metab; 2006 Mar 27; 87(3):262-71. PubMed ID: 16321553
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  • 20. Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
    Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L.
    Thromb Haemost; 2016 Jul 04; 116(1):17-31. PubMed ID: 26988807
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