164 related articles for article (PubMed ID: 33600779)
41. 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]
42. 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; 14(1):87. PubMed ID: 31029159
[TBL] [Abstract][Full Text] [Related]
43. A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.
Tao J; Arias-Salgado EG; González-Manchón C; Díaz-Cremades J; Ayuso MS; Parrilla R
Br J Haematol; 2000 Oct; 111(1):96-103. PubMed ID: 11091187
[TBL] [Abstract][Full Text] [Related]
44. 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; 27(4):359-69. PubMed ID: 16463284
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. 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]
47. 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]
48. 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; 118(23):5996-6005. PubMed ID: 21917754
[TBL] [Abstract][Full Text] [Related]
49. 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
[TBL] [Abstract][Full Text] [Related]
50. 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]
51. Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia.
Zheng JY; Jin YH; Zhu YL; Jin PP; Zhang DT; Jin ZB
Chin Med J (Engl); 2010 Jun; 123(11):1397-401. PubMed ID: 20819594
[TBL] [Abstract][Full Text] [Related]
52. Abnormal processing of the glycoprotein IIb transcript due to a nonsense mutation in exon 17 associated with Glanzmann's thrombasthenia.
Tomiyama Y; Kashiwagi H; Kosugi S; Shiraga M; Kanayama Y; Kurata Y; Matsuzawa Y
Thromb Haemost; 1995 May; 73(5):756-62. PubMed ID: 7482399
[TBL] [Abstract][Full Text] [Related]
53. 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
[TBL] [Abstract][Full Text] [Related]
54. Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
Grimaldi CM; Chen F; Wu C; Weiss HJ; Coller BS; French DL
Blood; 1998 Mar; 91(5):1562-71. PubMed ID: 9473221
[TBL] [Abstract][Full Text] [Related]
55. Novel homozygous silent mutation of
Wang Z; Xu Y; Sun Y; Wang S; Dong M
Front Pediatr; 2022; 10():1062900. PubMed ID: 36704147
[TBL] [Abstract][Full Text] [Related]
56. Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families.
Kannan M; Yadav BK; Ahmad F; Saxena R
Int J Lab Hematol; 2010 Feb; 32(1 Pt 1):e158-62. PubMed ID: 19170775
[TBL] [Abstract][Full Text] [Related]
57. Glanzmann thrombasthenia: state of the art and future directions.
Nurden AT; Pillois X; Wilcox DA
Semin Thromb Hemost; 2013 Sep; 39(6):642-55. PubMed ID: 23929305
[TBL] [Abstract][Full Text] [Related]
58. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML; Cook A; Bastida JM; Paul DS; Iruin G; Cid AR; Adan-Pedroso R; Ramón González-Porras J; Hernández-Rivas JM; Fletcher SJ; Johnson B; Morgan N; Ferrer-Marin F; Vicente V; Sondek J; Watson SP; Bergmeier W; Rivera J
Blood; 2016 Sep; 128(9):1282-9. PubMed ID: 27235135
[TBL] [Abstract][Full Text] [Related]
59. Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism.
D'Andrea G; Margaglione M;
Haematologica; 2003 Dec; 88(12):1378-82. PubMed ID: 14687991
[TBL] [Abstract][Full Text] [Related]
60. A frameshift mutation at Gly975 in the transmembrane domain of GPIIb prevents GPIIb-IIIa expression--analysis of two novel mutations in a kindred with type I glanzmann thrombasthenia.
Scott JP; Scott JP; Chao YL; Newman PJ; Ward CM
Thromb Haemost; 1998 Oct; 80(4):546-50. PubMed ID: 9798966
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]