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Journal Abstract Search

170 related items for PubMed ID: 28888044

  • 1.
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 4. 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 Oct; 26(8):779-82. PubMed ID: 25734216
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  • 6. Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families.
    Sandrock K, Halimeh S, Wiegering V, Kappert G, Sauer K, Deeg N, Busse E, Zieger B.
    Klin Padiatr; 2012 Apr; 224(3):174-8. PubMed ID: 22513797
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population.
    Aloui C, Chakroun T, Granados V, Jemni-Yacoub S, Fagan J, Khelif A, Kahloul N, Hammami S, Chkioua L, Barlier C, Cognasse F, Laradi S, Garraud O.
    Blood Coagul Fibrinolysis; 2018 Dec; 29(8):689-696. PubMed ID: 30325339
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  • 8. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent.
    Pillois X, Nurden AT.
    Br J Haematol; 2016 Nov; 175(4):686-695. PubMed ID: 27469266
    [Abstract] [Full Text] [Related]

  • 9. 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
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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
    Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.
    Hum Mutat; 2010 Mar; 31(3):237-46. PubMed ID: 20020534
    [Abstract] [Full Text] [Related]

  • 12. Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
    Zafarghandi Motlagh F, Fallah MS, Bagherian H, Shirzadeh T, Ghasri S, Dabbagh S, Jamali M, Salehi Z, Abiri M, Zeinali S.
    Orphanet J Rare Dis; 2019 Apr 27; 14(1):87. PubMed ID: 31029159
    [Abstract] [Full Text] [Related]

  • 13. 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 27; 21(12):3597-3607. PubMed ID: 37604334
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 27; 31(3):355-359. PubMed ID: 31088191
    [Abstract] [Full Text] [Related]

  • 15. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
    Park KJ, Chung HS, Lee KO, Park IA, Kim SH, Kim HJ.
    Pediatr Blood Cancer; 2012 Aug 27; 59(2):335-8. PubMed ID: 22190468
    [Abstract] [Full Text] [Related]

  • 16. Clinical and molecular insights into Glanzmann's thrombasthenia in China.
    Zhou L, Jiang M, Shen H, You T, Ding Z, Cui Q, Ma Z, Yang F, Xie Z, Shi H, Su J, Cao L, Lin J, Yin J, Dai L, Wang H, Wang Z, Yu Z, Ruan C, Xia L.
    Clin Genet; 2018 Aug 27; 94(2):213-220. PubMed ID: 29675921
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  • 17.
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  • 18. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
    Nurden AT, Pillois X, Nurden P.
    Expert Rev Hematol; 2012 Oct 27; 5(5):487-503. PubMed ID: 23146053
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  • 19. 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 Oct 27; 15(12):e0235136. PubMed ID: 33276370
    [Abstract] [Full Text] [Related]

  • 20. 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]

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