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Journal Abstract Search

352 related items for PubMed ID: 25373348

  • 1. 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
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  • 5. 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; 59(2):335-8. PubMed ID: 22190468
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  • 6. 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
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  • 7. 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 27; 42(5):628-635. PubMed ID: 32558238
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  • 8. 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 27; 31(3):237-46. PubMed ID: 20020534
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  • 10. Novel mutations in Thai patients with glanzmann thrombasthenia.
    Ittiwut R, Suchartlikitwong P, Kittikalayawong Y, Ittiwut C, Prasopsanti K, Sosothikul D, Shotelersuk V, Suphapeetiporn K.
    Eur J Haematol; 2017 Dec 27; 99(6):520-524. PubMed ID: 28888044
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  • 12. 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 28; 117(3):556-569. PubMed ID: 28078347
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  • 13. 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 28; 29(8):689-696. PubMed ID: 30325339
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  • 14. 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 28; 6(2):249-260. PubMed ID: 29385657
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  • 19. Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
    Vannier C, Behnisch W, Bartsch I, Sandrock K, Ertle F, Schmidt K, Busse A, Superti-Furga A, Kulozik A, Santoso S, Zieger B.
    Klin Padiatr; 2010 May 28; 222(3):150-3. PubMed ID: 20514618
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