BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

298 related articles for article (PubMed ID: 24934643)

  • 61. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.
    Lanza F; De La Salle C; Baas MJ; Schwartz A; Boval B; Cazenave JP; Caen JP
    Br J Haematol; 2002 Jul; 118(1):260-6. PubMed ID: 12100158
    [TBL] [Abstract][Full Text] [Related]  

  • 62. [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].
    Wang Z; Shi J; Han Y
    Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):464-6. PubMed ID: 11758225
    [TBL] [Abstract][Full Text] [Related]  

  • 63. A novel mutation in the GP1BA gene in Bernard-Soulier syndrome.
    Özdemir ZC; Düzenli Kar Y; Ceylaner S; Bör Ö
    Blood Coagul Fibrinolysis; 2020 Jan; 31(1):83-86. PubMed ID: 31789661
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease.
    Clemetson KJ; Clemetson JM
    Curr Opin Hematol; 1994 Sep; 1(5):388-93. PubMed ID: 9371310
    [TBL] [Abstract][Full Text] [Related]  

  • 65. 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]  

  • 66. 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]  

  • 67. [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].
    Zhao XJ; Wang ZY; Duan WM; Fu JX; Lu ME; Wang JM; Bai X; Ruan CG
    Zhonghua Xue Ye Xue Za Zhi; 2003 Sep; 24(9):480-3. PubMed ID: 14575593
    [TBL] [Abstract][Full Text] [Related]  

  • 68. 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]  

  • 69. 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]  

  • 70. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.
    Kunishima S; Naoe T; Kamiya T; Saito H
    Am J Hematol; 2001 Dec; 68(4):249-55. PubMed ID: 11754414
    [TBL] [Abstract][Full Text] [Related]  

  • 71. 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; 112(1):105-8. PubMed ID: 11167791
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
    Lopez-Onieva L; Lamolda M; Montes R; Lozano ML; Vicente V; Rivera J; Ramos-Mejía V; Real PJ
    Stem Cell Res; 2017 Apr; 20():10-13. PubMed ID: 28395735
    [TBL] [Abstract][Full Text] [Related]  

  • 73. 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]  

  • 74. 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; 62(4):256-64. PubMed ID: 10227459
    [TBL] [Abstract][Full Text] [Related]  

  • 75. 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; 95(6):295-302. PubMed ID: 10527407
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.
    Vettore S; Scandellari R; Moro S; Lombardi AM; Scapin M; Randi ML; Fabris F
    Haematologica; 2008 Nov; 93(11):1743-7. PubMed ID: 18815197
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
    Rosenberg N; Lalezari S; Landau M; Shenkman B; Seligsohn U; Izraeli S
    J Thromb Haemost; 2007 Feb; 5(2):378-86. PubMed ID: 17083647
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Glycoprotein V-deficient platelets have undiminished thrombin responsiveness and Do not exhibit a Bernard-Soulier phenotype.
    Kahn ML; Diacovo TG; Bainton DF; Lanza F; Trejo J; Coughlin SR
    Blood; 1999 Dec; 94(12):4112-21. PubMed ID: 10590056
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.
    Dib F; Quéméner A; Bayart S; Boisseau P; Babuty A; Trossaërt M; Sigaud M; Ternisien C; Drillaud N; Eveillard M; Guillet B; Béné MC; Fouassier M
    Br J Haematol; 2022 Dec; 199(5):744-753. PubMed ID: 36173017
    [TBL] [Abstract][Full Text] [Related]  

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

    [Previous]   [Next]    [New Search]
    of 15.