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Results: 1 to 20 of 560

1.

Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.

Hilbert L, Nurden P, Caron C, Nurden AT, Goudemand J, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease.

Thromb Haemost. 2006 Sep;96(3):290-4.

PMID:
16953269
[PubMed - indexed for MEDLINE]
2.

A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.

Jorieux S, Gaucher C, Goudemand J, Mazurier C.

Blood. 1998 Dec 15;92(12):4663-70.

PMID:
9845532
[PubMed - indexed for MEDLINE]
Free Article
3.

Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.

Hilbert L, Jorieux S, Fontenay-Roupie M, Guicheteau M, Fressinaud E, Meyer D, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease.

Br J Haematol. 2004 Oct;127(2):184-9. Review.

PMID:
15461624
[PubMed - indexed for MEDLINE]
4.

Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.

Hilbert L, Jorieux S, Proulle V, Favier R, Goudemand J, Parquet A, Meyer D, Fressinaud E, Mazurier C; INSERM Network on Molecular Abnormalities in von Willebrand Disease.

Br J Haematol. 2003 Feb;120(4):627-32.

PMID:
12588349
[PubMed - indexed for MEDLINE]
5.

Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.

Miller CH, Kelley L, Green D.

Am J Hematol. 1998 Aug;58(4):311-8.

PMID:
9692396
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment.

Jorieux S, Fressinaud E, Goudemand J, Gaucher C, Meyer D, Mazurier C.

Blood. 2000 May 15;95(10):3139-45.

PMID:
10807780
[PubMed - indexed for MEDLINE]
Free Article
9.

An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.

Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, Girolami A.

Blood. 2003 Jan 1;101(1):151-6. Epub 2002 Aug 8.

PMID:
12393698
[PubMed - indexed for MEDLINE]
Free Article
10.

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z.

Acta Haematol. 2009;121(2-3):119-27. doi: 10.1159/000214852. Epub 2009 Jun 8. Review.

PMID:
19506358
[PubMed - indexed for MEDLINE]
11.

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.

Schneppenheim R, Lenk H, Obser T, Oldenburg J, Oyen F, Schneppenheim S, Schwaab R, Will K, Budde U.

Thromb Haemost. 2004 Jul;92(1):36-41.

PMID:
15213842
[PubMed - indexed for MEDLINE]
12.

Identifying carriers of type 2N von Willebrand disease: procedures and significance.

Casonato A, Pontara E, Sartorello F, Cattini MG, Perutelli P, Bertomoro A, Gallinaro L, Pagnan A.

Clin Appl Thromb Hemost. 2007 Apr;13(2):194-200.

PMID:
17456630
[PubMed - indexed for MEDLINE]
13.
14.

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
[PubMed - indexed for MEDLINE]
15.

Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.

Nesbitt IM, Goodeve AC, Guilliatt AM, Makris M, Preston FE, Peake IR.

Thromb Haemost. 1996 Jun;75(6):959-64.

PMID:
8822593
[PubMed - indexed for MEDLINE]
16.

Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.

Veyradier A, Caron C, Ternisien C, Wolf M, Trossaert M, Fressinaud E, Goudemand J.

Haemophilia. 2011 Nov;17(6):944-51. doi: 10.1111/j.1365-2516.2011.02499.x. Epub 2011 Mar 3.

PMID:
21371195
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

Hilbert L, Federici AB, Baronciani L, Dallagiovanna S, Mazurier C.

Haematologica. 2004 Sep;89(9):1128-33.

PMID:
15377475
[PubMed - indexed for MEDLINE]
Free Article

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