BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

103 related articles for article (PubMed ID: 20106508)

  • 1. Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin.
    Bagoly Z; Fazakas F; Marosi A; Török O; Bereczky Z; Haramura G; Tóth J; Kappelmayer J; Muszbek L
    Thromb Res; 2010 May; 125(5):427-31. PubMed ID: 20106508
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.
    Nurden AT; Fernandes H; Fiore M; Nurden P; Vinciguerra C; Martins N; Sirvain-Trukniewicz P; Couloux A; Heilig R; Pillois X
    Platelets; 2010; 21(6):498-500. PubMed ID: 20438394
    [No Abstract]   [Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia.
    Milet-Marsal S; Breillat C; Peyruchaud O; Nurden P; Combrié R; Nurden A; Bourre F
    Thromb Haemost; 2002 Jul; 88(1):104-10. PubMed ID: 12152649
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
    D'Andrea G; Bafunno V; Del Vecchio L; Amoriello A; Morabito P; Vecchione G; Grandone E; Margaglione M
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):657-62. PubMed ID: 18832906
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 42(5):628-635. PubMed ID: 32558238
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.
    Nair S; Li J; Mitchell WB; Mohanty D; Coller BS; French DL
    Thromb Haemost; 2002 Sep; 88(3):503-9. PubMed ID: 12353082
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Reduced collagen-induced platelet aggregation in obligate heterozygotes of a Glanzmann thrombasthenia variant with a beta 3 mutation.
    Nurden A; Jacquelin B; Tuleja E; Combrié R; Nurden P
    Thromb Haemost; 2002 Aug; 88(2):364-5. PubMed ID: 12195716
    [No Abstract]   [Full Text] [Related]  

  • 11. [Novel frame-shift mutation of 540 A deletion in GP IIb gene from a patient with Glanzmann thrombasthenia].
    Jian ZF; Tang FQ; Chen FP; Xie QZ; Wang GP
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2008 Feb; 33(2):165-8. PubMed ID: 18326913
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.
    Kannan M; Ahmad F; Yadav BK; Kumar P; Jain P; Kumar R; Saxena R
    Am J Clin Pathol; 2008 Jul; 130(1):93-8. PubMed ID: 18550477
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.
    Garcia LC; Breillat C; Lima M; Combrié R; Morais S; Teixera Mdos A; Campos M; Justica B; Nurden AT
    Platelets; 2004 Feb; 15(1):15-22. PubMed ID: 14985172
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis.
    Fiore M; Nurden AT; Vinciguerra C; Nurden P; Pillois X
    Thromb Haemost; 2010 Nov; 104(5):1076-7. PubMed ID: 20886184
    [No Abstract]   [Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
    Nair S; Ghosh K; Shetty S; Mohanty D
    J Thromb Haemost; 2005 Mar; 3(3):482-8. PubMed ID: 15748237
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interesting variations on how a disease is defined: comparisons of von Willebrand disease and Glanzmann thrombasthenia.
    Nurden AT
    J Thromb Haemost; 2007 Mar; 5(3):647-9; author reply 649-51. PubMed ID: 17166245
    [No Abstract]   [Full Text] [Related]  

  • 18. Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case.
    Hayashi T; Tanaka S; Hori Y; Terada C; Ueda Y; Tani Y
    J Thromb Haemost; 2005 Mar; 3(3):489-96. PubMed ID: 15748238
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient.
    Nair S; Ghosh K; Shetty S; Mohanty D
    Haematologica; 2004 Dec; 89(12):1529-30. PubMed ID: 15590407
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of
    Bury L; Zetterberg E; Leinøe EB; Falcinelli E; Marturano A; Manni G; Nurden AT; Gresele P
    Haematologica; 2018 Jun; 103(6):e259-e263. PubMed ID: 29439184
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.