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283 related items for PubMed ID: 7855797

  • 1. 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; 72(3):444-9. PubMed ID: 7855797
    [Abstract] [Full Text] [Related]

  • 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; 76(5):670-4. PubMed ID: 8950770
    [Abstract] [Full Text] [Related]

  • 3. 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; 20(6):470-4. PubMed ID: 19448529
    [Abstract] [Full Text] [Related]

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

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

  • 7. Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
    Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci PM.
    Platelets; 2007 Sep; 18(6):409-13. PubMed ID: 17763149
    [Abstract] [Full Text] [Related]

  • 8. 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; 88(4):839-44. PubMed ID: 7819107
    [Abstract] [Full Text] [Related]

  • 9. 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; 87(2):329-33. PubMed ID: 11858495
    [Abstract] [Full Text] [Related]

  • 10. 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; 76(6):874-8. PubMed ID: 8972003
    [Abstract] [Full Text] [Related]

  • 11. 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; 77(6):501-12. PubMed ID: 16978236
    [Abstract] [Full Text] [Related]

  • 12. Molecular defects in the Bernard-Soulier syndrome: assessment of receptor genes, transcripts and proteins.
    Roth GJ.
    C R Acad Sci III; 1996 Sep; 319(9):819-26. PubMed ID: 8952885
    [Abstract] [Full Text] [Related]

  • 13. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
    Kunishima S, Tomiyama Y, Honda S, Fukunishi M, Hara J, Inoue C, Kamiya T, Saito H.
    Thromb Haemost; 2000 Jul; 84(1):112-7. PubMed ID: 10928480
    [Abstract] [Full Text] [Related]

  • 14. 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; 78(1):41-8. PubMed ID: 15609295
    [Abstract] [Full Text] [Related]

  • 15. A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.
    Vettore S, Scandellari R, Scapin M, Lombardi AM, Duner E, Randi ML, Fabris F.
    Platelets; 2008 Aug; 19(5):388-91. PubMed ID: 18791947
    [Abstract] [Full Text] [Related]

  • 16. 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; 87(5):2026-30. PubMed ID: 2308962
    [Abstract] [Full Text] [Related]

  • 17. 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; 62(3):160-8. PubMed ID: 10089893
    [Abstract] [Full Text] [Related]

  • 18. The platelet glycoprotein Ib-IX complex.
    Ruggeri ZM.
    Prog Hemost Thromb; 1991 Mar; 10():35-68. PubMed ID: 1848946
    [No Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Biochemical and molecular basis of Bernard-Soulier syndrome: a review.
    de la Salle C, Lanza F, Cazenave JP.
    Nouv Rev Fr Hematol (1978); 1995 Oct 01; 37(4):215-22. PubMed ID: 8904201
    [Abstract] [Full Text] [Related]

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