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165 related items for PubMed ID: 9326230

  • 1. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain.
    Afshar-Kharghan V, López JA.
    Blood; 1997 Oct 01; 90(7):2634-43. PubMed ID: 9326230
    [Abstract] [Full Text] [Related]

  • 2. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome.
    Kenny D, Newman PJ, Morateck PA, Montgomery RR.
    Blood; 1997 Oct 01; 90(7):2626-33. PubMed ID: 9326229
    [Abstract] [Full Text] [Related]

  • 3. Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene.
    Afshar-Kharghan V, Craig FE, López JA.
    Br J Haematol; 2000 Sep 01; 110(4):919-24. PubMed ID: 11054083
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.
    Li C, Pasquale DN, Roth GJ.
    Thromb Haemost; 1996 Nov 01; 76(5):670-4. PubMed ID: 8950770
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome.
    Wang Z, Zhao X, Duan W, Fu J, Lu M, Wang G, Bai X, Ruan C.
    Thromb Haemost; 2004 Sep 01; 92(3):606-13. PubMed ID: 15351858
    [Abstract] [Full Text] [Related]

  • 7. Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
    Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D.
    Blood; 2000 Jul 15; 96(2):532-9. PubMed ID: 10887115
    [Abstract] [Full Text] [Related]

  • 8. Molecular and genetic analysis of two patients with Bernard-Soulier syndrome--identification of new mutations in glycoprotein Ib alpha gene.
    Kanaji T, Okamura T, Kurolwa M, Noda M, Fujimura K, Kuramoto A, Sano M, Nakano S, Niho Y.
    Thromb Haemost; 1997 Jun 15; 77(6):1055-61. PubMed ID: 9241731
    [Abstract] [Full Text] [Related]

  • 9. Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.
    Koskela S, Partanen J, Salmi TT, Kekomäki R.
    Eur J Haematol; 1999 Mar 15; 62(3):160-8. PubMed ID: 10089893
    [Abstract] [Full Text] [Related]

  • 10. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.
    Li C, Martin SE, Roth GJ.
    Blood; 1995 Nov 15; 86(10):3805-14. PubMed ID: 7579348
    [Abstract] [Full Text] [Related]

  • 11. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
    Simsek S, Admiraal LG, Modderman PW, van der Schoot CE, von dem Borne AE.
    Thromb Haemost; 1994 Sep 15; 72(3):444-9. PubMed ID: 7855797
    [Abstract] [Full Text] [Related]

  • 12. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.
    Watanabe R, Ishibashi T, Saitoh Y, Shichishima T, Maruyama Y, Enomoto Y, Handa M, Oda A, Ambo H, Murata M, Ikeda Y.
    Blood Coagul Fibrinolysis; 2003 Jun 15; 14(4):387-94. PubMed ID: 12945881
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 20(6):470-4. PubMed ID: 19448529
    [Abstract] [Full Text] [Related]

  • 14. Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.
    Ware J, Russell SR, Vicente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM.
    Proc Natl Acad Sci U S A; 1990 Mar 15; 87(5):2026-30. PubMed ID: 2308962
    [Abstract] [Full Text] [Related]

  • 15. Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome.
    Sae-Tung G, Dong JF, López JA.
    Blood; 1996 Feb 15; 87(4):1361-7. PubMed ID: 8608225
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 84(1):104-11. PubMed ID: 10928479
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  • 18. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
    Strassel C, David T, Eckly A, Baas MJ, Moog S, Ravanat C, Trzeciak MC, Vinciguerra C, Cazenave JP, Gachet C, Lanza F.
    J Thromb Haemost; 2006 Jan 15; 4(1):217-28. PubMed ID: 16409472
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  • 20. Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.
    Simsek S, Noris P, Lozano M, Pico M, von dem Borne AE, Ribera A, Gallardo D.
    Br J Haematol; 1994 Dec 15; 88(4):839-44. PubMed ID: 7819107
    [Abstract] [Full Text] [Related]

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