Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 456

1.

Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.

Xie J, Pabón D, Jayo A, Butta N, González-Manchón C.

Thromb Haemost. 2005 May;93(5):897-903.

PMID:
15886806
[PubMed - indexed for MEDLINE]
2.

A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.

Losonczy G, Rosenberg N, Kiss C, Kappelmayer J, Vereb G, Kerényi A, Balogh I, Muszbek L.

Thromb Haemost. 2005 May;93(5):904-9.

PMID:
15886807
[PubMed - indexed for MEDLINE]
3.

Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.

Jayo A, Pabón D, Lastres P, Jiménez-Yuste V, González-Manchón C.

Haematologica. 2006 Oct;91(10):1352-9.

PMID:
17018384
[PubMed - indexed for MEDLINE]
Free Article
4.

Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia.

Ferrer M, Tao J, Iruín G, Sánchez-Ayuso M, González-Rodríguez J, Parrilla R, González-Manchón C.

Blood. 1998 Dec 15;92(12):4712-20.

PMID:
9845537
[PubMed - indexed for MEDLINE]
Free Article
5.

Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene.

Tanaka S, Hayashi T, Terada C, Hori Y, Han KS, Ahn HS, Bourre F, Tani Y.

J Thromb Haemost. 2003 Nov;1(11):2427-33.

PMID:
14629479
[PubMed - indexed for MEDLINE]
6.

A novel Pro126His beta propeller mutation in integrin alphaIIb causes Glanzmann thrombasthenia by impairing progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi.

Shen WZ, Ding QL, Jin PP, Wang XF, Jiang YZ, Li SM, Wang HL.

Blood Cells Mol Dis. 2009 Jan-Feb;42(1):44-50. doi: 10.1016/j.bcmd.2008.08.005. Epub 2008 Oct 30.

PMID:
18976939
[PubMed - indexed for MEDLINE]
7.

A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.

González-Manchón C, Butta N, Larrucea S, Arias-Salgado EG, Alonso S, López A, Parrilla R.

Thromb Haemost. 2004 Dec;92(6):1377-86.

PMID:
15583747
[PubMed - indexed for MEDLINE]
8.

A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia.

González-Manchón C, Arias-Salgado EG, Butta N, Martín G, Rodríguez RB, Elalamy I, Parrilla R, Favier R.

J Thromb Haemost. 2003 May;1(5):1071-8.

PMID:
12871379
[PubMed - indexed for MEDLINE]
9.

Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.

Simsek S, Heyboer H, de Bruijne-Admiraal LG, Goldschmeding R, Cuijpers HT, von dem Borne AE.

Blood. 1993 Apr 15;81(8):2044-9.

PMID:
8471765
[PubMed - indexed for MEDLINE]
Free Article
10.

A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia.

Tadokoro S, Tomiyama Y, Honda S, Arai M, Yamamoto N, Shiraga M, Kosugi S, Kanakura Y, Kurata Y, Matsuzawa Y.

Blood. 1998 Oct 15;92(8):2750-8.

PMID:
9763559
[PubMed - indexed for MEDLINE]
Free Article
11.

A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.

Tao J, Arias-Salgado EG, González-Manchón C, Iruín G, Butta N, Ayuso MS, Parrilla R.

Br J Haematol. 2000 Dec;111(3):965-73.

PMID:
11122161
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
11091187
[PubMed - indexed for MEDLINE]
14.

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.

Nelson EJ, Nair SC, Peretz H, Coller BS, Seligsohn U, Chandy M, Srivastava A.

J Thromb Haemost. 2006 Aug;4(8):1730-7.

PMID:
16879215
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa.

Arias-Salgado EG, Tao J, González-Manchón C, Butta N, Vicente V, Ayuso MS, Parrilla R.

Thromb Haemost. 2002 Apr;87(4):684-91.

PMID:
12008952
[PubMed - indexed for MEDLINE]
17.

Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.

González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, García-Muñoz S, Ayuso MS, Parrilla R.

Blood. 1999 Feb 1;93(3):866-75.

PMID:
9920835
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
15748238
[PubMed - indexed for MEDLINE]
19.
20.

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 1;91(5):1562-71.

PMID:
9473221
[PubMed - indexed for MEDLINE]
Free Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk