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Items: 1 to 20 of 125

1.

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.

Sutherland MS, Keeney S, Bolton-Maggs PH, Hay CR, Will A, Cumming AM.

Haemophilia. 2009 Sep;15(5):1048-57. doi: 10.1111/j.1365-2516.2009.02059.x. Epub 2009 Jul 10.

PMID:
19601990
2.

Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.

Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H.

Clin Appl Thromb Hemost. 2006 Jul;12(3):277-95. Review.

PMID:
16959681
3.

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.

Yadegari H, Driesen J, Pavlova A, Biswas A, Hertfelder HJ, Oldenburg J.

Thromb Haemost. 2012 Oct;108(4):662-71. Epub 2012 Aug 7.

PMID:
22871923
4.

Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population.

Mohl A, Boda Z, Jager R, Losonczy H, Marosi A, Masszi T, Nagy E, Nemes L, Obser T, Oyen F, Radványi G, Schlammadinger Á, Szélessy ZS, Várkonyi A, Vezendy K, Vilimi B, Schneppenheim R, Bodó I.

J Thromb Haemost. 2011 May;9(5):945-52. doi: 10.1111/j.1538-7836.2011.04250.x.

5.

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
6.

Genetic heterogeneity of severe von Willebrand disease type III in the German population.

Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Meili E, Mertes G, et al.

Hum Genet. 1994 Dec;94(6):640-52.

PMID:
7989040
7.

Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.

Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R.

Thromb Haemost. 1996 Oct;76(4):598-602.

PMID:
8903002
9.

Molecular characterization of Iranian patients with type 3 von Willebrand disease.

Shahbazi S, Mahdian R, Ala FA, Lavergne JM, Denis CV, Christophe OD.

Haemophilia. 2009 Sep;15(5):1058-64. doi: 10.1111/j.1365-2516.2009.02046.x. Epub 2009 Jun 4.

PMID:
19500169
10.

Genetic mutations in von Willebrand disease identified by DHPLC and DNA sequence analysis.

Kakela JK, Friedman KD, Haberichter SL, Buchholz NP, Christopherson PA, Kroner PA, Gill JC, Montgomery RR, Bellissimo DB.

Mol Genet Metab. 2006 Mar;87(3):262-71.

PMID:
16321553
11.

A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

Sutherland MS, Cumming AM, Bowman M, Bolton-Maggs PH, Bowen DJ, Collins PW, Hay CR, Will AM, Keeney S.

Blood. 2009 Jul 30;114(5):1091-8. doi: 10.1182/blood-2008-08-173278. Epub 2009 Apr 16.

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.

The genetic basis of von Willebrand disease.

Goodeve AC.

Blood Rev. 2010 May;24(3):123-34. doi: 10.1016/j.blre.2010.03.003. Epub 2010 Apr 20. Review.

PMID:
20409624
14.

Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.

Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H.

Semin Thromb Hemost. 2005 Nov;31(5):577-601. Review.

PMID:
16276467
15.

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gupta PK, Saxena R, Adamtziki E, Budde U, Oyen F, Obser T, Schneppenheim R.

Blood Cells Mol Dis. 2008 Sep-Oct;41(2):219-22. doi: 10.1016/j.bcmd.2008.03.004. Epub 2008 May 16.

PMID:
18485763
16.
17.

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.

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

Am J Hum Genet. 1992 Oct;51(4):850-8.

18.

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Bowman M, Tuttle A, Notley C, Brown C, Tinlin S, Deforest M, Leggo J, Blanchette VS, Lillicrap D, James P; Association of Hemophilia Clinic Directors of Canada.

J Thromb Haemost. 2013 Mar;11(3):512-20. doi: 10.1111/jth.12130.

19.
20.

Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.

Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F.

Thromb Haemost. 1998 Apr;79(4):709-17.

PMID:
9569178

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