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219 related items for PubMed ID: 9163595

  • 1. 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; 97(2):312-20. PubMed ID: 9163595
    [Abstract] [Full Text] [Related]

  • 2. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.
    Suzuki K, Hayashi T, Yahagi A, Akiba J, Tajima K, Satoh S, Sasaki H.
    Br J Haematol; 1997 Dec; 99(4):794-800. PubMed ID: 9432024
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 15; 76(6):874-8. PubMed ID: 8972003
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 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 01; 74(6):1411-5. PubMed ID: 8772211
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 89(2):386-96. PubMed ID: 7873390
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system.
    Suzuki K, Hayashi T, Akiba J, Satoh S, Kato T.
    Thromb Res; 1999 Sep 15; 95(6):295-302. PubMed ID: 10527407
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Molecular pathogenesis of Bernard-Soulier syndrome.
    Hayashi T, Suzuki K.
    Semin Thromb Hemost; 2000 Mar 15; 26(1):53-9. PubMed ID: 10805283
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.
    Rivera CE, Villagra J, Riordan M, Williams S, Lindstrom KJ, Rick ME.
    Br J Haematol; 2001 Jan 15; 112(1):105-8. PubMed ID: 11167791
    [Abstract] [Full Text] [Related]

  • 17. Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.
    Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomäki R.
    Eur J Haematol; 1999 Apr 15; 62(4):256-64. PubMed ID: 10227459
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany.
    Sachs UJ, Kroll H, Matzdorff AC, Berghöfer H, Löpez JA, Santoso S.
    Br J Haematol; 2003 Oct 15; 123(1):127-31. PubMed ID: 14510954
    [Abstract] [Full Text] [Related]

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