These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

187 related items for PubMed ID: 8481514

  • 1. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
    Wright SD, Michaelides K, Johnson DJ, West NC, Tuddenham EG.
    Blood; 1993 May 01; 81(9):2339-47. PubMed ID: 8481514
    [Abstract] [Full Text] [Related]

  • 2. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
    Miller JL, Lyle VA, Cunningham D.
    Blood; 1992 Jan 15; 79(2):439-46. PubMed ID: 1730088
    [Abstract] [Full Text] [Related]

  • 3. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
    Clemetson JM, Kyrle PA, Brenner B, Clemetson KJ.
    Blood; 1994 Aug 15; 84(4):1124-31. PubMed ID: 8049428
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
    Noris P, Simsek S, Stibbe J, von dem Borne AE.
    Br J Haematol; 1997 May 15; 97(2):312-20. PubMed ID: 9163595
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome.
    Vanhoorelbeke K, Schlammadinger A, Delville JP, Handsaeme J, Vandecasteele G, Vauterin S, Pradier O, Wijns W, Deckmyn H.
    Platelets; 2001 Mar 15; 12(2):114-20. PubMed ID: 11297032
    [Abstract] [Full Text] [Related]

  • 11. Evidence that an abnormality in the glycoprotein Ib alpha gene is not the cause of abnormal platelet function in a family with classic Bernard-Soulier disease.
    Finch CN, Miller JL, Lyle VA, Handin RI.
    Blood; 1990 Jun 15; 75(12):2357-62. PubMed ID: 1972029
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14. 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]

  • 15. 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]

  • 16. 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]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 15; 68(4):249-55. PubMed ID: 11754414
    [Abstract] [Full Text] [Related]

  • 20. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.
    Dağistan N, Kunishima S.
    Acta Haematol; 2007 Dec 15; 118(3):146-8. PubMed ID: 17804902
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.