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Items: 1 to 20 of 100

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. doi: 10.1016/j.thromres.2010.01.002. Epub 2010 Jan 27. No abstract available.

PMID:
20106508
2.
3.

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. doi: 10.1586/ehm.12.46. Review.

PMID:
23146053
4.

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. doi: 10.3109/09537101003771528. No abstract available.

PMID:
20438394
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. doi: 10.1002/pbc.24041. Epub 2011 Dec 20.

PMID:
22190468
6.

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. Epub 2006 Dec 13. No abstract available.

7.

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.

PMID:
12152649
8.

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. doi: 10.1097/MBC.0b013e3283048e42.

PMID:
18832906
9.

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. doi: 10.1160/TH14-05-0479. Epub 2014 Nov 6.

PMID:
25373348
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. No abstract available.

PMID:
12195716
12.

Clinical utility gene card for: Glanzmann thrombasthenia.

Fiore M, Nurden AT, Nurden P, Seligsohn U.

Eur J Hum Genet. 2012 Oct;20(10). doi: 10.1038/ejhg.2012.151. Epub 2012 Jul 11. No abstract available. Erratum in: Eur J Hum Genet. 2012 Oct;20(10):1102.

13.

[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. Chinese.

15.

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. doi: 10.1309/HYE4AP9961CEP0C0.

PMID:
18550477
16.

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.

PMID:
14985172
17.

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.

PMID:
20819594
18.

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. doi: 10.1160/TH10-05-0268. Epub 2010 Sep 30. No abstract available.

PMID:
20886184
19.

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.

20.

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