These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

164 related items for PubMed ID: 19372260

  • 1. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
    Sutherland MS, Cumming AM, Bowman M, Bolton-Maggs PH, Bowen DJ, Collins PW, Hay CR, Will AM, Keeney S.
    Blood; 2009 Jul 30; 114(5):1091-8. PubMed ID: 19372260
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 Oct 01; 121(2-3):128-38. PubMed ID: 19506359
    [Abstract] [Full Text] [Related]

  • 4. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
    Schneppenheim R, Budde U, Obser T, Brassard J, Mainusch K, Ruggeri ZM, Schneppenheim S, Schwaab R, Oldenburg J.
    Blood; 2001 Apr 01; 97(7):2059-66. PubMed ID: 11264172
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Laboratory diagnosis and molecular classification of von Willebrand disease.
    Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.
    Acta Haematol; 2009 Oct 01; 121(2-3):71-84. PubMed ID: 19506352
    [Abstract] [Full Text] [Related]

  • 7. 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, Biswas A, Hertfelder HJ, Oldenburg J.
    Thromb Haemost; 2012 Oct 01; 108(4):662-71. PubMed ID: 22871923
    [Abstract] [Full Text] [Related]

  • 8. A common founder mutation p.P2063S in exon 36 of VWF in 11 unrelated Indian von Willebrand disease (VWD) families.
    Kasatkar P, Ghosh K, Shetty S.
    Ann Hematol; 2013 Aug 01; 92(8):1147-8. PubMed ID: 23354996
    [No Abstract] [Full Text] [Related]

  • 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 01; 12(3):277-95. PubMed ID: 16959681
    [Abstract] [Full Text] [Related]

  • 10. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
    O'Brien LA, James PD, Othman M, Berber E, Cameron C, Notley CR, Hegadorn CA, Sutherland JJ, Hough C, Rivard GE, O'Shaunessey D, Lillicrap D, Association of Hemophilia Clinic Directors of Canada.
    Blood; 2003 Jul 15; 102(2):549-57. PubMed ID: 12649144
    [Abstract] [Full Text] [Related]

  • 11. New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami.
    Ledford MR, Rabinowitz I, Sadler JE, Kent JW, Civantos F.
    Blood; 1993 Jul 01; 82(1):169-75. PubMed ID: 8324222
    [Abstract] [Full Text] [Related]

  • 12. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.
    Cumming A, Grundy P, Keeney S, Lester W, Enayat S, Guilliatt A, Bowen D, Pasi J, Keeling D, Hill F, Bolton-Maggs PH, Hay C, Collins P, UK Haemophilia Centre Doctors' Organisation.
    Thromb Haemost; 2006 Nov 01; 96(5):630-41. PubMed ID: 17080221
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan 01; 75(1):9-18. PubMed ID: 11843298
    [Abstract] [Full Text] [Related]

  • 14. An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution.
    Berber E, James PD, Hough C, Lillicrap D.
    J Thromb Haemost; 2009 Oct 01; 7(10):1672-9. PubMed ID: 19624459
    [Abstract] [Full Text] [Related]

  • 15. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
    Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z.
    Acta Haematol; 2009 Oct 01; 121(2-3):119-27. PubMed ID: 19506358
    [Abstract] [Full Text] [Related]

  • 16. von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells.
    Bowman M, Casey L, Selvam SN, Lima PDA, Rawley O, Hinds M, Tuttle A, Grabell J, Iorio A, Walker I, Lillicrap D, James P.
    J Thromb Haemost; 2022 Jul 01; 20(7):1599-1609. PubMed ID: 35466528
    [Abstract] [Full Text] [Related]

  • 17. Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains.
    Michiels JJ, Gadisseur A, van der Planken M, Schroyens W, Berneman Z.
    Acta Haematol; 2009 Jul 01; 121(2-3):111-8. PubMed ID: 19506357
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
    Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ.
    Acta Haematol; 2009 Jul 04; 121(2-3):145-53. PubMed ID: 19506361
    [Abstract] [Full Text] [Related]

  • 20. 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 04; 87(3):262-71. PubMed ID: 16321553
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.