BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 21800012)

  • 1. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
    Bartsch I; Sandrock K; Lanza F; Nurden P; Hainmann I; Pavlova A; Greinacher A; Tacke U; Barth M; Busse A; Oldenburg J; Bommer M; Strahm B; Superti-Furga A; Zieger B
    Thromb Haemost; 2011 Sep; 106(3):475-83. PubMed ID: 21800012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size.
    Kato K; Martinez C; Russell S; Nurden P; Nurden A; Fiering S; Ware J
    Blood; 2004 Oct; 104(8):2339-44. PubMed ID: 15213102
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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; 14(4):387-94. PubMed ID: 12945881
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
    Bragadottir G; Birgisdottir ER; Gudmundsdottir BR; Hilmarsdottir B; Vidarsson B; Magnusson MK; Larsen OH; Sorensen B; Ingerslev J; Onundarson PT
    Am J Hematol; 2015 Feb; 90(2):149-55. PubMed ID: 25370924
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
    Savoia A; Pastore A; De Rocco D; Civaschi E; Di Stazio M; Bottega R; Melazzini F; Bozzi V; Pecci A; Magrin S; Balduini CL; Noris P
    Haematologica; 2011 Mar; 96(3):417-23. PubMed ID: 21173099
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.
    Ware J; Russell S; Ruggeri ZM
    Proc Natl Acad Sci U S A; 2000 Mar; 97(6):2803-8. PubMed ID: 10706630
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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; 89(2):386-96. PubMed ID: 7873390
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
    Boeckelmann D; Hengartner H; Greinacher A; Nowak-Göttl U; Sachs UJ; Peter K; Sandrock-Lang K; Zieger B
    Blood Cells Mol Dis; 2017 Sep; 67():69-74. PubMed ID: 28131619
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements.
    Tomer A; Scharf RE; McMillan R; Ruggeri ZM; Harker LA
    Eur J Haematol; 1994 Apr; 52(4):193-200. PubMed ID: 8005229
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Study of Bernard-Soulier Syndrome Megakaryocytes and Platelets Using Patient-Derived Induced Pluripotent Stem Cells.
    Mekchay P; Ingrungruanglert P; Suphapeetiporn K; Sosothikul D; Ji-Au W; Maneesri Le Grand S; Israsena N; Rojnuckarin P
    Thromb Haemost; 2019 Sep; 119(9):1461-1470. PubMed ID: 31352676
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.
    Al-Numair N; Ramzan K; Alquait L; Alshehri M; Imtiaz F; Owaidah T
    Blood Coagul Fibrinolysis; 2021 Jul; 32(5):352-355. PubMed ID: 33657022
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.