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Journal Abstract Search

232 related items for PubMed ID: 22479377

  • 1. 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; 7(3):e33263. PubMed ID: 22479377
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  • 4. 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; 121(2-3):128-38. PubMed ID: 19506359
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  • 6. 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
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  • 7. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.
    Casonato A, Sartorello F, Pontara E, Gallinaro L, Bertomoro A, Grazia Cattini M, Daidone V, Szukowska M, Pagnan A.
    Thromb Haemost; 2007 Dec; 98(6):1182-7. PubMed ID: 18064311
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  • 8. 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
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  • 9. Molecular genetics of type 2 von Willebrand disease.
    Fressinaud E, Mazurier C, Meyer D.
    Int J Hematol; 2002 Jan; 75(1):9-18. PubMed ID: 11843298
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  • 10. 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
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  • 11. von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
    Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R.
    Thromb Haemost; 2014 Jul 03; 112(1):96-108. PubMed ID: 24598842
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  • 12. Characterisation of mutations and molecular studies of type 2 von Willebrand disease.
    Ahmad F, Jan R, Kannan M, Obser T, Hassan MI, Oyen F, Budde U, Saxena R, Schneppenheim R.
    Thromb Haemost; 2013 Jan 03; 109(1):39-46. PubMed ID: 23179108
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  • 13. 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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  • 14. Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics.
    Englender T, Lattuada A, Mannucci PM, Sadler JE, Inbal A.
    Blood; 1996 Apr 01; 87(7):2788-94. PubMed ID: 8639896
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  • 15. L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
    Kashiwagi T, Matsushita T, Ito Y, Hirashima K, Sanda N, Fujimori Y, Yamada T, Okumura K, Takagi A, Murate T, Katsumi A, Takamatsu J, Yamamoto K, Naoe T, Kojima T.
    Haemophilia; 2008 May 01; 14(3):556-63. PubMed ID: 18397285
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  • 17. 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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  • 18. 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 01; 120(11):1569-1579. PubMed ID: 32803740
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  • 19. Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
    Tischer A, Brehm MA, Machha VR, Moon-Tasson L, Benson LM, Nelton KJ, Leger RR, Obser T, Martinez-Vargas M, Whitten ST, Chen D, Pruthi RK, Bergen HR, Cruz MA, Schneppenheim R, Auton M.
    J Mol Biol; 2020 Jan 17; 432(2):305-323. PubMed ID: 31628947
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  • 20. Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
    Jacobi PM, Gill JC, Flood VH, Jakab DA, Friedman KD, Haberichter SL.
    Blood; 2012 May 10; 119(19):4543-53. PubMed ID: 22431572
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