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Results: 1 to 20 of 135

Similar articles for PubMed (Select 23496210)

1.

Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.

Larsen DM, Haberichter SL, Gill JC, Shapiro AD, Flood VH.

Haemophilia. 2013 Jul;19(4):590-4. doi: 10.1111/hae.12117. Epub 2013 Mar 18.

2.

Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.

Hillery CA, Mancuso DJ, Evan Sadler J, Ponder JW, Jozwiak MA, Christopherson PA, Cox Gill J, Paul Scott J, Montgomery RR.

Blood. 1998 Mar 1;91(5):1572-81.

3.

Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD.

Flood VH, Gill JC, Morateck PA, Christopherson PA, Friedman KD, Haberichter SL, Hoffmann RG, Montgomery RR.

Blood. 2011 Feb 10;117(6):e67-74. doi: 10.1182/blood-2010-08-299016. Epub 2010 Dec 10.

4.

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.

Acta Haematol. 2009;121(2-3):71-84. doi: 10.1159/000214846. Epub 2009 Jun 8. Review.

PMID:
19506352
5.

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E, Mazurier C, Meyer D.

Int J Hematol. 2002 Jan;75(1):9-18. Review.

PMID:
11843298
6.

A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.

Casonato A, Sartorello F, Pontara E, Gallinaro L, Bertomoro A, Grazia Cattini M, Daidone V, Szukowska M, Pagnan A.

Thromb Haemost. 2007 Dec;98(6):1182-7.

PMID:
18064311
7.

A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.

Stepanian A, Ribba AS, Lavergne JM, Fressinaud E, Juhan-Vague I, Mazurier C, Girma JP, Meyer D.

Br J Haematol. 2003 Feb;120(4):643-51.

PMID:
12588351
8.

Characterisation of von Willebrand factor A1 domain mutants I1416N and I1416T: correlation of clinical phenotype with flow-based platelet adhesion.

McKinnon TA, Nowak AA, Cutler J, Riddell AF, Laffan MA, Millar CM.

J Thromb Haemost. 2012 Jul;10(7):1409-16. doi: 10.1111/j.1538-7836.2012.04760.x.

PMID:
22537243
9.

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A, van der Planken M, Schroyens W, Berneman Z, Michiels JJ.

Acta Haematol. 2009;121(2-3):145-53. doi: 10.1159/000214855. Epub 2009 Jun 8. Review.

PMID:
19506361
10.

Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: a comparison with the ristocetin cofactor assay.

Riddell AF, Jenkins PV, Nitu-Whalley IC, McCraw AH, Lee CA, Brown SA.

Br J Haematol. 2002 Jan;116(1):187-92.

PMID:
11841416
11.

N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.

Lanke E, Kristoffersson AC, Isaksson C, Holmberg L, Lethagen S.

Eur J Haematol. 2008 Nov;81(5):384-90. doi: 10.1111/j.1600-0609.2008.01123.x. Epub 2008 Jul 11.

PMID:
18637125
12.

Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization.

Casonato A, Pontara E, Sartorello F, Bertomoro A, Durante C, Girolami A.

J Lab Clin Med. 2001 Jan;137(1):70-6.

PMID:
11150026
13.

A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.

Casonato A, Cattini MG, Soldera C, Marcato S, Sartorello F, Pontara E, Pagnan A.

J Lab Clin Med. 2004 Nov;144(5):254-9.

PMID:
15570243
14.

Molecular genetics of von Willebrand disease.

Mazurier C, Ribba AS, Gaucher C, Meyer D.

Ann Genet. 1998;41(1):34-43. Review.

PMID:
9599650
16.

Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.

Hilbert L, Jenkins PV, Gaucher C, Meriane E, Collins PW, Pasi KJ, Mazurier C.

Thromb Haemost. 2000 Aug;84(2):188-94.

PMID:
10959688
18.

Critical von Willebrand factor A1 domain residues influence type VI collagen binding.

Flood VH, Gill JC, Christopherson PA, Bellissimo DB, Friedman KD, Haberichter SL, Lentz SR, Montgomery RR.

J Thromb Haemost. 2012 Jul;10(7):1417-24. doi: 10.1111/j.1538-7836.2012.04746.x.

19.

Identification of a novel 14-3-3zeta binding site within the cytoplasmic domain of platelet glycoprotein Ibalpha that plays a key role in regulating the von Willebrand factor binding function of glycoprotein Ib-IX.

Yuan Y, Zhang W, Yan R, Liao Y, Zhao L, Ruan C, Du X, Dai K.

Circ Res. 2009 Dec 4;105(12):1177-85. doi: 10.1161/CIRCRESAHA.109.204669. Epub 2009 Oct 29.

20.
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