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

134 related items for PubMed ID: 38387303

  • 1. A noncanonical splicing variant c.875-5 T > G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease.
    Liang Q, Zhang Z, Ding B, Shao Y, Ding Q, Dai J, Hu X, Wu W, Wang X.
    Thromb Res; 2024 Apr; 236():51-60. PubMed ID: 38387303
    [Abstract] [Full Text] [Related]

  • 2. A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
    Pagliari MT, Baronciani L, Garcìa Oya I, Solimando M, La Marca S, Cozzi G, Stufano F, Canciani MT, Peyvandi F.
    J Thromb Haemost; 2013 Jul; 11(7):1251-9. PubMed ID: 23621778
    [Abstract] [Full Text] [Related]

  • 3. Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.
    Obser T, Ledford-Kraemer M, Oyen F, Brehm MA, Denis CV, Marschalek R, Montgomery RR, Sadler JE, Schneppenheim S, Budde U, Schneppenheim R.
    J Thromb Haemost; 2016 Sep; 14(9):1725-35. PubMed ID: 27344059
    [Abstract] [Full Text] [Related]

  • 4. Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
    Dong J, Zhao X, Shi S, Ma Z, Liu M, Wu Q, Ruan C, Dong N.
    PLoS One; 2012 Sep; 7(3):e33263. PubMed ID: 22479377
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.
    Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A.
    Thromb Haemost; 2006 Dec; 96(6):711-6. PubMed ID: 17139363
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons.
    James PD, O'Brien LA, Hegadorn CA, Notley CR, Sinclair GD, Hough C, Poon MC, Lillicrap D.
    Blood; 2004 Nov 01; 104(9):2739-45. PubMed ID: 15226181
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 19(1):139-146. PubMed ID: 33047469
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
    Daidone V, Barbon G, Pontara E, Cattini GM, Gallinaro L, Zampese E, Pizzo P, Casonato A.
    Thromb Haemost; 2014 Dec 01; 112(6):1159-66. PubMed ID: 25230768
    [Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

    Page: [Next] [New Search]
    of 7.