BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

327 related articles for article (PubMed ID: 23566026)

  • 1. Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
    Kunishima S; Imai T; Kobayashi R; Kato M; Ogawa S; Saito H
    Pediatr Int; 2013 Aug; 55(4):434-7. PubMed ID: 23566026
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome.
    Souto Filho JTD; Ribeiro HAA; Fassbender IPB; Ribeiro JMMC; Ferreira Júnior WDS; Figueiredo LCS
    Blood Coagul Fibrinolysis; 2019 Dec; 30(8):423-425. PubMed ID: 31738289
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome.
    Kenny D; Morateck PA; Gill JC; Montgomery RR
    Blood; 1999 May; 93(9):2968-75. PubMed ID: 10216092
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
    Hillmann A; Nurden A; Nurden P; Combrié R; Claeyssens S; Moran N; Kenny D
    Thromb Haemost; 2002 Dec; 88(6):1026-32. PubMed ID: 12529755
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
    Kurokawa Y; Ishida F; Kamijo T; Kunishima S; Kenny D; Kitano K; Koike K
    Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
    Hadjkacem B; Elleuch H; Gargouri J; Gargouri A
    Ann Hematol; 2009 May; 88(5):465-72. PubMed ID: 18825380
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
    Ludlow LB; Schick BP; Budarf ML; Driscoll DA; Zackai EH; Cohen A; Konkle BA
    J Biol Chem; 1996 Sep; 271(36):22076-80. PubMed ID: 8703016
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Novel Mutation in
    Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
    Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
    Zwifelhofer NMJ; Bercovitz RS; Weik LA; Moroi A; LaRose S; Newman PJ; Newman DK
    J Thromb Haemost; 2019 Feb; 17(2):295-305. PubMed ID: 30549403
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
    Nagoshi R; Sakamoto A; Imai T; Uchiyama T; Kaname T; Kunishima S; Ishiguro A
    Int J Hematol; 2024 Apr; ():. PubMed ID: 38625506
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
    Kunishima S; Matsushita T; Ito T; Kamiya T; Saito H
    Am J Hematol; 2002 Dec; 71(4):279-84. PubMed ID: 12447957
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
    HadjKacem B; Elleuch H; Trigui R; Gargouri J; Gargouri AF
    Ann Hematol; 2010 Jan; 89(1):75-81. PubMed ID: 19484238
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
    Strassel C; Pasquet JM; Alessi MC; Juhan-Vague I; Chambost H; Combrié R; Nurden P; Bas MJ; De La Salle C; Cazenave JP; Lanza F; Nurden AT
    Biochemistry; 2003 Apr; 42(15):4452-62. PubMed ID: 12693941
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic abnormalities of Bernard-Soulier syndrome.
    Kunishima S; Kamiya T; Saito H
    Int J Hematol; 2002 Nov; 76(4):319-27. PubMed ID: 12463594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.
    Kunishima S; Tomiyama Y; Honda S; Kurata Y; Kamiya T; Ozawa K; Saito H
    Br J Haematol; 1999 Dec; 107(3):539-45. PubMed ID: 10583255
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
    Nakagawa M; Okuno M; Okamoto N; Fujino H; Kato H
    Am J Med Genet; 2001 Apr; 99(4):286-8. PubMed ID: 11251994
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
    Mahfouz RA; Bolz HJ; Otrock ZK; Bergmann C; Muwakkit S
    Blood Coagul Fibrinolysis; 2012 Jun; 23(4):335-7. PubMed ID: 22343686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.