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Journal Abstract Search

274 related items for PubMed ID: 7579348

  • 1. 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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  • 2. 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 15; 76(5):670-4. PubMed ID: 8950770
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  • 3. 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
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  • 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
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  • 5. 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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  • 6. 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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  • 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. 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 01; 97(2):312-20. PubMed ID: 9163595
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  • 10. 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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  • 11. Molecular modeling of the seven tandem leucine-rich repeats within the ligand-binding region of platelet glycoprotein Ib alpha.
    Whisstock JC, Shen Y, López JA, Andrews RK, Berndt MC.
    Thromb Haemost; 2002 Feb 01; 87(2):329-33. PubMed ID: 11858495
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  • 12. 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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  • 13. Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
    Rosenberg N, Lalezari S, Landau M, Shenkman B, Seligsohn U, Izraeli S.
    J Thromb Haemost; 2007 Feb 01; 5(2):378-86. PubMed ID: 17083647
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  • 15. 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 01; 12(2):114-20. PubMed ID: 11297032
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  • 16. Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib alpha Leu129Pro mutation.
    Antonucci JV, Martin ES, Hulick PJ, Joseph A, Martin SE.
    Am J Hematol; 2000 Oct 01; 65(2):141-8. PubMed ID: 10996832
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  • 19. 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
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