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353 related items for PubMed ID: 12693941

  • 1.
    ; . PubMed ID:
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  • 2. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
    Kunishima S, Sako M, Yamazaki T, Hamaguchi M, Saito H.
    Eur J Haematol; 2006 Dec; 77(6):501-12. PubMed ID: 16978236
    [Abstract] [Full Text] [Related]

  • 3. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
    Kurokawa Y, Ishida F, Kamijo T, Kunishima S, Kenny D, Kitano K, Koike K.
    Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714
    [Abstract] [Full Text] [Related]

  • 4. Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing--the Nancy I Bernard-Soulier mutation expressed on CHO cells.
    Ulsemer P, Lanza F, Baas MJ, Schwartz A, Ravanat C, Briquel ME, Cranmer S, Jackson S, Cazenave JP, de la Salle C.
    Thromb Haemost; 2000 Jul; 84(1):104-11. PubMed ID: 10928479
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  • 5. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
    Kunishima S, Matsushita T, Ito T, Kamiya T, Saito H.
    Am J Hematol; 2002 Dec; 71(4):279-84. PubMed ID: 12447957
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  • 6. A novel monoclonal antibody against the extracellular domain of GPIbbeta modulates vWF mediated platelet adhesion.
    Perrault C, Moog S, Rubinstein E, Santer M, Baas MJ, de la Salle C, Ravanat C, Dambach J, Freund M, Santoso S, Cazenave JP, Lanza F.
    Thromb Haemost; 2001 Nov; 86(5):1238-48. PubMed ID: 11816713
    [Abstract] [Full Text] [Related]

  • 7. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
    Hadjkacem B, Elleuch H, Gargouri J, Gargouri A.
    Ann Hematol; 2009 May; 88(5):465-72. PubMed ID: 18825380
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  • 8. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
    Kunishima S, Tomiyama Y, Honda S, Fukunishi M, Hara J, Inoue C, Kamiya T, Saito H.
    Thromb Haemost; 2000 Jul; 84(1):112-7. PubMed ID: 10928480
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  • 9. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
    González-Manchón C, Butta N, Iruín G, Alonso S, Ayuso MS, Parrilla R.
    Thromb Haemost; 2003 Sep; 90(3):456-64. PubMed ID: 12958615
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  • 10. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.
    Lanza F, De La Salle C, Baas MJ, Schwartz A, Boval B, Cazenave JP, Caen JP.
    Br J Haematol; 2002 Jul; 118(1):260-6. PubMed ID: 12100158
    [Abstract] [Full Text] [Related]

  • 11. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
    Hillmann A, Nurden A, Nurden P, Combrié R, Claeyssens S, Moran N, Kenny D.
    Thromb Haemost; 2002 Dec; 88(6):1026-32. PubMed ID: 12529755
    [Abstract] [Full Text] [Related]

  • 12. Identification of a novel 14-3-3zeta binding site within the cytoplasmic domain of platelet glycoprotein Ibalpha that plays a key role in regulating the von Willebrand factor binding function of glycoprotein Ib-IX.
    Yuan Y, Zhang W, Yan R, Liao Y, Zhao L, Ruan C, Du X, Dai K.
    Circ Res; 2009 Dec 04; 105(12):1177-85. PubMed ID: 19875727
    [Abstract] [Full Text] [Related]

  • 13. Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.
    González-Manchón C, Larrucea S, Pastor AL, Butta N, Arias-Salgado EG, Ayuso MS, Parrilla R.
    Thromb Haemost; 2001 Dec 04; 86(6):1385-91. PubMed ID: 11776304
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  • 14. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome.
    Kenny D, Morateck PA, Gill JC, Montgomery RR.
    Blood; 1999 May 01; 93(9):2968-75. PubMed ID: 10216092
    [Abstract] [Full Text] [Related]

  • 15. A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.
    Imai C, Kunishima S, Takachi T, Iwabuchi H, Nemoto T, Imamura M, Uchiyama M.
    Blood Coagul Fibrinolysis; 2009 Sep 01; 20(6):470-4. PubMed ID: 19448529
    [Abstract] [Full Text] [Related]

  • 16. Biosynthesis of platelet glycoprotein V expressed as a single subunit or in association with GPIb-IX.
    Strassel C, Moog S, Baas MJ, Cazenave JP, Lanza F.
    Eur J Biochem; 2004 Sep 01; 271(18):3671-7. PubMed ID: 15355344
    [Abstract] [Full Text] [Related]

  • 17. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome.
    Noda M, Fujimura K, Takafuta T, Shimomura T, Fujii T, Katsutani S, Fujimoto T, Kuramoto A, Yamazaki T, Mochizuki T, Matsuzaki M, Sano M.
    Thromb Haemost; 1996 Dec 01; 76(6):874-8. PubMed ID: 8972003
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  • 18. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities.
    Noda M, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto N, Tanoue K, Arai M, Suehiro A, Kakishita E.
    Thromb Haemost; 1995 Dec 01; 74(6):1411-5. PubMed ID: 8772211
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  • 19. [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].
    Zhao XJ, Wang ZY, Duan WM, Fu JX, Lu ME, Wang JM, Bai X, Ruan CG.
    Zhonghua Xue Ye Xue Za Zhi; 2003 Sep 01; 24(9):480-3. PubMed ID: 14575593
    [Abstract] [Full Text] [Related]

  • 20. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.
    Dağistan N, Kunishima S.
    Acta Haematol; 2007 Sep 01; 118(3):146-8. PubMed ID: 17804902
    [Abstract] [Full Text] [Related]

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