BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (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
    [TBL] [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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. The platelet glycoprotein Ib-IX complex.
    Ruggeri ZM
    Prog Hemost Thromb; 1991; 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; 90(7):2634-43. PubMed ID: 9326230
    [TBL] [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; 37(4):215-22. PubMed ID: 8904201
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.