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Results: 1 to 20 of 211

Similar articles for PubMed (Select 16042701)

1.

The Y/C1584 mutation of von Willebrand factor in type 2M von Willebrand disease: frequency and clearance of von Willebrand factor.

Millar CM, Riddel AF, Griffioe A, Jenkin PV, Brown SA.

Br J Haematol. 2005 Aug;130(3):462-3. No abstract available.

PMID:
16042701
2.

C1584: effect on von Willebrand factor proteolysis and von Willebrand factor antigen levels.

Davies JA, Collins PW, Hathaway LS, Bowen DJ.

Acta Haematol. 2009;121(2-3):98-101. doi: 10.1159/000214848. Epub 2009 Jun 8. Review.

PMID:
19506354
5.

Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.

Millar CM, Riddell AF, Brown SA, Starke R, Mackie I, Bowen DJ, Jenkins PV, van Mourik JA.

Thromb Haemost. 2008 May;99(5):916-24. doi: 10.1160/TH07-09-0565.

PMID:
18449422
7.

von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M.

Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM.

J Thromb Haemost. 2006 Sep;4(9):2088-90. No abstract available.

PMID:
16961623
8.

Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.

Piao YC, Lavergne JM, Boyer-Neumann C, Schandelong A, Alessi MC, Meyer D.

Blood Coagul Fibrinolysis. 1993 Oct;4(5):787-9.

PMID:
8292729
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.

First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.

Hilbert L, D'Oiron R, Fressinaud E, Meyer D, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease.

J Thromb Haemost. 2004 Dec;2(12):2271-3. No abstract available.

PMID:
15613050
11.

Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.

Zhang ZP, Falk G, Blombäck M, Egberg N, Anvret M.

Hum Mol Genet. 1992 Apr;1(1):61-2. No abstract available.

PMID:
1301136
12.

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, Lester W, Peake I.

Blood. 2007 Jan 1;109(1):112-21. Epub 2006 Sep 19. Erratum in: Blood. 2008 Mar 15;111(6):3299-300.

13.
15.

C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.

Keeney S, Grundy P, Collins PW, Bowen DJ.

Haemophilia. 2007 Jul;13(4):405-8.

PMID:
17610557
16.

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms.

Goodeve A, Peake I.

Best Pract Res Clin Haematol. 2001 Jun;14(2):235-40.

PMID:
11686097
17.

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.

Eikenboom JC, Vink T, Briët E, Sixma JJ, Reitsma PH.

Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2221-4.

18.

[Detection of gene mutation and genetic analysis of a patient with type 3 von Willebrand disease].

Li Z, Wang Y, Wan H.

Zhonghua Xue Ye Xue Za Zhi. 1998 Mar;19(3):122-4. Chinese.

PMID:
11243141
19.

Biology of inherited coagulopathies: von Willebrand factor.

Ginsburg D.

Hematol Oncol Clin North Am. 1992 Oct;6(5):1011-20. Review.

PMID:
1400069
20.
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