BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 31565851)

  • 1. A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.
    Guillet B; Bayart S; Pillois X; Nurden P; Caen JP; Nurden AT
    J Thromb Haemost; 2019 Dec; 17(12):2211-2215. PubMed ID: 31565851
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
    Ali T; Gul S; Amar A; Shakoor M; Farhan S; Mohsin S; Khaliq S
    Int J Lab Hematol; 2020 Oct; 42(5):628-635. PubMed ID: 32558238
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome.
    Hauschner H; Mor-Cohen R; Messineo S; Mansour W; Seligsohn U; Savoia A; Rosenberg N
    Blood Coagul Fibrinolysis; 2015 Apr; 26(3):302-8. PubMed ID: 25806962
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of one novel pathogenic
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.
    Bury L; Falcinelli E; Chiasserini D; Springer TA; Italiano JE; Gresele P
    Haematologica; 2016 Jan; 101(1):46-56. PubMed ID: 26452979
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.
    Sandrock-Lang K; Oldenburg J; Wiegering V; Halimeh S; Santoso S; Kurnik K; Fischer L; Tsakiris DA; Sigl-Kraetzig M; Brand B; Bührlen M; Kraetzer K; Deeg N; Hund M; Busse E; Kahle A; Zieger B
    Thromb Haemost; 2015 Apr; 113(4):782-91. PubMed ID: 25373348
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
    Nurden AT; Pillois X; Fiore M; Alessi MC; Bonduel M; Dreyfus M; Goudemand J; Gruel Y; Benabdallah-Guerida S; Latger-Cannard V; Négrier C; Nugent D; Oiron RD; Rand ML; Sié P; Trossaert M; Alberio L; Martins N; Sirvain-Trukniewicz P; Couloux A; Canault M; Fronthroth JP; Fretigny M; Nurden P; Heilig R; Vinciguerra C
    Hum Mutat; 2015 May; 36(5):548-61. PubMed ID: 25728920
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
    Nurden AT; Pillois X; Nurden P
    Expert Rev Hematol; 2012 Oct; 5(5):487-503. PubMed ID: 23146053
    [TBL] [Abstract][Full Text] [Related]  

  • 9. First description of an IgM monoclonal antibody causing α
    Pillois X; Guy A; Choquet É; James C; Tuffigo M; Viallard JF; Garcia C; Bordet JC; Jandrot-Perrus M; Payrastre B; Fiore M
    J Thromb Haemost; 2019 May; 17(5):795-802. PubMed ID: 30868743
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 145(5):629-634. PubMed ID: 28948953
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.
    Tokgoz H; Torun Ozkan D; Caliskan U; Akar N
    Platelets; 2015; 26(8):779-82. PubMed ID: 25734216
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.
    Zhang J; Tang J; Li G; Li N; Wang J; Yao R; Yu T
    J Thromb Haemost; 2023 Dec; 21(12):3597-3607. PubMed ID: 37604334
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 37(6):698-706. PubMed ID: 22102273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 17(1):206-219. PubMed ID: 30388316
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B.
    Loroch S; Trabold K; Gambaryan S; Reiß C; Schwierczek K; Fleming I; Sickmann A; Behnisch W; Zieger B; Zahedi RP; Walter U; Jurk K
    Thromb Haemost; 2017 Feb; 117(3):556-569. PubMed ID: 28078347
    [TBL] [Abstract][Full Text] [Related]  

  • 16. In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
    Pillois X; Peters P; Segers K; Nurden AT
    Mol Genet Genomic Med; 2018 Mar; 6(2):249-260. PubMed ID: 29385657
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.
    Mansour W; Einav Y; Hauschner H; Koren A; Seligsohn U; Rosenberg N
    J Thromb Haemost; 2011 Jan; 9(1):192-200. PubMed ID: 21029361
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 15(12):e0235136. PubMed ID: 33276370
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.
    Gresele P; Falcinelli E; Giannini S; D'Adamo P; D'Eustacchio A; Corazzi T; Mezzasoma AM; Di Bari F; Guglielmini G; Cecchetti L; Noris P; Balduini CL; Savoia A
    Haematologica; 2009 May; 94(5):663-9. PubMed ID: 19336737
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
    Kannan M; Ahmad F; Yadav BK; Kumar R; Choudhry VP; Saxena R
    J Thromb Haemost; 2009 Nov; 7(11):1878-85. PubMed ID: 19691478
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.