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Lysiane Hilbert

Research Profile

Disorders

von Willebrand's Diseases

Chemicals & Drugs

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Lysiane Hilbert; Paquita Nurden; Claudine Caron; Alan T Nurden; Jenny Goudemand; Dominique Meyer; Edith Fressinaud; Claudine Mazurier
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.
Claudine Caron; Lysiane Hilbert; Karen Vanhoorelbeke; Hans Deckmyn; Jenny Goudemand; Claudine Mazurier
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: performances in patients with type 2B von Willebrand disease.
Claudine Mazurier; Lysiane Hilbert
Type 2N von Willebrand disease.

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2006: Lysiane Hilbert; Paquita Nurden; Claudine Caron; Alan T Nurden; Jenny Goudemand; Dominique Meyer; Edith Fressinaud; Claudine Mazurier
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.
Thrombosis and haemostasis 2006;96(3):290-4.
2006: Claudine Caron; Lysiane Hilbert; Karen Vanhoorelbeke; Hans Deckmyn; Jenny Goudemand; Claudine Mazurier
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: performances in patients with type 2B von Willebrand disease.
British journal of haematology 2006;133(6):655-63.
2005: Claudine Mazurier; Lysiane Hilbert
Type 2N von Willebrand disease.
Current hematology reports 2005;4(5):350-8.
2004: Lysiane Hilbert; Roseline d'Oiron; Edith Fressinaud; D Meyer; Claudine Mazurier
First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.
Journal of thrombosis and haemostasis : JTH 2004;2(12):2271-3.
2004: Lysiane Hilbert; Sylvie Jorieux; M Fontenay-Roupie; M Guicheteau; Edith Fressinaud; Dominique Meyer; Claudine Mazurier
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
British journal of haematology 2004;127(2):184-9.
2004: Lysiane Hilbert; Augusto B Federici; Luciano Baronciani; Serena Dallagiovanna; Claudine Mazurier
A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.
Haematologica 2004;89(9):1128-33.
2004: Augusto B Federici; Claudine Mazurier; Erik Berntorp; Christine A Lee; Inge Scharrer; Jenny Goudemand; Stephan Lethagen; Ioana Nitu; Gerard Ludwig; Lysiane Hilbert; Pier M Mannucci
Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study.
Blood 2004;103(6):2032-8.
2004: Claudine Mazurier; M Poulle; Bruno Samor; Lysiane Hilbert; Sami Chtourou
In vitro study of a triple-secured von Willebrand factor concentrate.
Vox sanguinis 2004;86(2):100-4.
2003: Lysiane Hilbert; Sylvie Jorieux; VALERIE PROULLE; Rémi Favier; Jenny Goudemand; Armelle Parquet; Dominique Meyer; Edith Fressinaud; Claudine Mazurier
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
British journal of haematology 2003;120(4):627-32.
2002: Lysiane Hilbert; Edith Fressinaud; Anne-Sophie Ribba; D Meyer; Claudine Mazurier
Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.
Thrombosis and haemostasis 2002;87(4):635-40.
2001: D Meyer; Edith Fressinaud; Lysiane Hilbert; Anne-Sophie Ribba; Jean-Maurice Lavergne; Claudine Mazurier
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function.
Best practice & research. Clinical haematology 2001;14(2):349-64.
2001: Claudine Mazurier; Jenny Goudemand; Lysiane Hilbert; Claudine Caron; Edith Fressinaud; D Meyer
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology.
Best practice & research. Clinical haematology 2001;14(2):337-47.
2001: Anne C Goodeve; J C J Eikenboom; David Ginsburg; Lysiane Hilbert; Claudine Mazurier; Ian R Peake; J Evan Sadler; F Rodeghiero
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor.
Thrombosis and haemostasis 2001;85(5):929-31.
2001: A N Ribba; Lysiane Hilbert; Jean-Maurice Lavergne; Edith Fressinaud; C Boyer-Neumann; C Ternisien; Irène Juhan-Vague; Jenny Goudemand; Jean-Pierre Girma; Claudine Mazurier; Dominique Meyer
The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
Blood 2001;97(4):952-9.
2000: Lysiane Hilbert; P Vincent Jenkins; Christine Gaucher; E Meriane; Peter W Collins; K John Pasi; Claudine Mazurier
Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.
Thrombosis and haemostasis 2000;84(2):188-94.
1998: Lysiane Hilbert; Christine Gaucher; J F Abgrall; Armelle Parquet; C Trzeciak; Claudine Mazurier
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.
British journal of haematology 1998;103(3):877-84.
1998: christophe de romeuf; Lysiane Hilbert; Claudine Mazurier
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations.
Thrombosis and haemostasis 1998;79(1):211-6.
1997: Dominique Meyer; Edith Fressinaud; Christine Gaucher; Jean-Maurice Lavergne; Lysiane Hilbert; Anne-Sophie Ribba; Sylvie Jorieux; Claudine Mazurier
Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease.
Thrombosis and haemostasis 1997;78(1):451-6.
1995: Lysiane Hilbert; Christine Gaucher; Claudine Mazurier
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.
British journal of haematology 1995;91(4):983-90.
1995: Lysiane Hilbert; Christine Gaucher; Claudine Mazurier
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
Blood 1995;86(3):1010-8.
1994: Lysiane Hilbert; Christine Gaucher; christophe de romeuf; M H Horellou; T Vink; Claudine Mazurier
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.
Blood 1994;83(6):1542-50.