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352 related items for PubMed ID: 25373348

  • 21. Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
    Lu Z, Nikuze L, Zhong Z, Li F, Zhang F, Liang K, Wei M, Wei H.
    Platelets; 2020; 31(3):355-359. PubMed ID: 31088191
    [Abstract] [Full Text] [Related]

  • 22. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
    Nurden AT, Fiore M, Nurden P, Pillois X.
    Blood; 2011 Dec 01; 118(23):5996-6005. PubMed ID: 21917754
    [Abstract] [Full Text] [Related]

  • 23. Glanzmann thrombasthenia: genetic basis and clinical correlates.
    Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J, ClinGen Platelet Disorder Variant Curation Expert Panel.
    Haematologica; 2020 Apr 01; 105(4):888-894. PubMed ID: 32139434
    [Abstract] [Full Text] [Related]

  • 24. Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.
    Fiore M, Firah N, Pillois X, Nurden P, Heilig R, Nurden AT.
    Haemophilia; 2012 May 01; 18(3):e201-9. PubMed ID: 22250950
    [Abstract] [Full Text] [Related]

  • 25. Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
    Nurden AT, Fiore M, Nurden P, Heilig R, Pillois X.
    Platelets; 2011 May 01; 22(7):547-51. PubMed ID: 21557682
    [Abstract] [Full Text] [Related]

  • 26. αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.
    Morais S, Oliveira J, Lau C, Pereira M, Gonçalves M, Monteiro C, Gonçalves AR, Matos R, Sampaio M, Cruz E, Freitas I, Santos R, Lima M.
    PLoS One; 2020 May 01; 15(12):e0235136. PubMed ID: 33276370
    [Abstract] [Full Text] [Related]

  • 27. Prenatal diagnosis of Glanzmann thrombasthenia.
    Srivastava A, Usher S, Nelson EJ, Jayandharan G, Shaji RV, Chandy M, Seligsohn U, Peretz H.
    Natl Med J India; 2003 May 01; 16(4):207-8. PubMed ID: 14606769
    [Abstract] [Full Text] [Related]

  • 28. Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.
    Xie J, Pabón D, Jayo A, Butta N, González-Manchón C.
    Thromb Haemost; 2005 May 01; 93(5):897-903. PubMed ID: 15886806
    [Abstract] [Full Text] [Related]

  • 29. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
    Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, Coller BS, Srivastava A, Seligsohn U.
    Hum Mutat; 2006 Apr 01; 27(4):359-69. PubMed ID: 16463284
    [Abstract] [Full Text] [Related]

  • 30. Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin.
    Nurden AT, Pillois X, Fiore M, Heilig R, Nurden P.
    Semin Thromb Hemost; 2011 Sep 01; 37(6):698-706. PubMed ID: 22102273
    [Abstract] [Full Text] [Related]

  • 31. [Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].
    Lu XM, Fu DY, Zhang YF, Zhao LD, Wang L, Yang J, Liu J, Zheng JW, Yang LH, Wang G.
    Zhonghua Xue Ye Xue Za Zhi; 2024 Apr 14; 45(4):370-377. PubMed ID: 38951065
    [Abstract] [Full Text] [Related]

  • 32. A unique phenotype of acquired Glanzmann thrombasthenia due to non-function-blocking anti-αIIbβ3 autoantibodies.
    Akuta K, Kashiwagi H, Yujiri T, Nishiura N, Morikawa Y, Kato H, Honda S, Kanakura Y, Tomiyama Y.
    J Thromb Haemost; 2019 Jan 14; 17(1):206-219. PubMed ID: 30388316
    [Abstract] [Full Text] [Related]

  • 33. Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.
    Haghighi A, Borhany M, Ghazi A, Edwards N, Tabaksert A, Haghighi A, Fatima N, Shamsi TS, Sayer JA.
    Clin Genet; 2016 Feb 14; 89(2):187-92. PubMed ID: 26096001
    [Abstract] [Full Text] [Related]

  • 34. A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.
    Shen WZ, Ding QL, Jin PP, Wang XF, Jiang YZ, Li SM, Wang HL.
    Blood Cells Mol Dis; 2009 Feb 14; 42(1):44-50. PubMed ID: 18976939
    [Abstract] [Full Text] [Related]

  • 35. Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.
    Nelson EJ, Nair SC, Peretz H, Coller BS, Seligsohn U, Chandy M, Srivastava A.
    J Thromb Haemost; 2006 Aug 14; 4(8):1730-7. PubMed ID: 16879215
    [Abstract] [Full Text] [Related]

  • 36. Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms.
    Mutreja D, Sharma RK, Purohit A, Aggarwal M, Saxena R.
    Indian J Med Res; 2017 May 14; 145(5):629-634. PubMed ID: 28948953
    [Abstract] [Full Text] [Related]

  • 37. Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.
    Karaman K, Yürektürk E, Geylan H, Yaşar AŞ, Karaman S, Aymelek HS, Çetin M, Oner AF.
    Platelets; 2021 Feb 17; 32(2):238-242. PubMed ID: 32089034
    [Abstract] [Full Text] [Related]

  • 38. A novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B gene induces severe bleeding complications: a case report and literature review.
    Xu Q, Zhou M, Xu M, Zhang L, Zhang X.
    Blood Coagul Fibrinolysis; 2021 Mar 01; 32(2):146-150. PubMed ID: 33196509
    [Abstract] [Full Text] [Related]

  • 39. A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian Family.
    Alharbi A, Hashmi JA, Alharby E, Albalawi AM, Ramzan K, Basit S.
    Hematol Oncol Stem Cell Ther; 2022 Mar 01; 15(1):21-26. PubMed ID: 33600779
    [Abstract] [Full Text] [Related]

  • 40. New αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains.
    Koker MY, Sarper N, Albayrak C, Zulfikar B, Zengin E, Saraymen B, Albayrak D, Koc B, Avcilar H, Karakükcü M, Chenet C, Bianchi F, de Brevern AG, Petermann R, Jallu V.
    Platelets; 2022 May 19; 33(4):551-561. PubMed ID: 34275420
    [Abstract] [Full Text] [Related]

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