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Journal Abstract Search

161 related items for PubMed ID: 11054083

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  • 3. 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; 76(5):670-4. PubMed ID: 8950770
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  • 4. 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; 77(6):1055-61. PubMed ID: 9241731
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  • 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
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  • 6. 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
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  • 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
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  • 8. 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
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  • 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 01; 62(3):160-8. PubMed ID: 10089893
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  • 10. 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
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  • 11. 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 15; 131(4):e160-7. PubMed ID: 23414566
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  • 12. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
    Drouin J, Carson NL, Laneuville O.
    Am J Hematol; 2005 Jan 15; 78(1):41-8. PubMed ID: 15609295
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  • 13. 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
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  • 14. 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
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  • 15. 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 15; 74(6):1411-5. PubMed ID: 8772211
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  • 16. 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 15; 92(3):606-13. PubMed ID: 15351858
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  • 17. 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 15; 86(6):1385-91. PubMed ID: 11776304
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  • 18. Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha.
    Mitsui T, Yokoyama S, Yazaki N, Hayashi T, Suzuki K, Shimizu Y, Kawakami T, Kanazawa C, Katsuura M, Ikegami T, Hayasaka K.
    J Pediatr Hematol Oncol; 1998 Dec 15; 20(3):246-51. PubMed ID: 9628437
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  • 19. Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.
    Holmberg L, Karpman D, Nilsson I, Olofsson T.
    Br J Haematol; 1997 Jul 15; 98(1):57-63. PubMed ID: 9233564
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  • 20. Molecular pathogenesis of Bernard-Soulier syndrome.
    Hayashi T, Suzuki K.
    Semin Thromb Hemost; 2000 Jul 15; 26(1):53-9. PubMed ID: 10805283
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