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Journal Abstract Search

249 related items for PubMed ID: 9326229

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.
    Kunishima S, Miura H, Fukutani H, Yoshida H, Osumi K, Kobayashi S, Ohno R, Naoe T.
    Blood; 1994 Nov 15; 84(10):3356-62. PubMed ID: 7949089
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 14(4):387-94. PubMed ID: 12945881
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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
    [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. A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).
    de la Salle C, Baas MJ, Lanza F, Schwartz A, Hanau D, Chevalier J, Gachet C, Briquel ME, Cazenave JP.
    Br J Haematol; 1995 Feb 15; 89(2):386-96. PubMed ID: 7873390
    [Abstract] [Full Text] [Related]

  • 12. Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
    Kenny D, Jónsson OG, Morateck PA, Montgomery RR.
    Blood; 1998 Jul 01; 92(1):175-83. PubMed ID: 9639514
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 4(1):217-28. PubMed ID: 16409472
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 118(1):260-6. PubMed ID: 12100158
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 84(1):104-11. PubMed ID: 10928479
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 77(6):501-12. PubMed ID: 16978236
    [Abstract] [Full Text] [Related]

  • 17. Molecular pathogenesis of Bernard-Soulier syndrome.
    Hayashi T, Suzuki K.
    Semin Thromb Hemost; 2000 Dec 01; 26(1):53-9. PubMed ID: 10805283
    [Abstract] [Full Text] [Related]

  • 18. A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
    Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A, Pecci A.
    Int J Mol Sci; 2021 Sep 22; 22(19):. PubMed ID: 34638529
    [Abstract] [Full Text] [Related]

  • 19. Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.
    Yamamoto N, Akamatsu N, Sakuraba H, Matsuno K, Hosoya R, Nogami H, Kasahara K, Mitsuyama S, Arai M.
    Thromb Res; 2013 Apr 22; 131(4):e160-7. PubMed ID: 23414566
    [Abstract] [Full Text] [Related]

  • 20. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.
    Kunishima S, Naoe T, Kamiya T, Saito H.
    Am J Hematol; 2001 Dec 22; 68(4):249-55. PubMed ID: 11754414
    [Abstract] [Full Text] [Related]

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