Lysiane Hilbert

LFB (United States) — United States

Medicine · Health Sciences

16h-index862citations27works0.02yr avg
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Research Topics

Platelet Disorders and Treatments(24), Blood groups and transfusion(16), Blood disorders and treatments(10), Complement system in diseases(4), Antiplatelet Therapy and Cardiovascular Diseases(4)

Publications27 total

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study
Journal of Thrombosis and Haemostasis·2009· 61 cited
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ib<i>α</i> in an enzyme‐linked immunosorbent assay‐based method: performances in patients with type 2B von Willebrand disease
British Journal of Haematology·2006· 20 citedOpen Access
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· 33 cited
Type 2N von Willebrand disease.
PubMed·2005· 20 cited
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·2004· 16 citedOpen Access
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene
British Journal of Haematology·2004· 12 citedOpen Access
A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.
PubMed·2004· 6 cited
<i>In vitro</i> study of a triple‐secured von Willebrand factor concentrate
Vox Sanguinis·2004· 28 cited
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· 44 cited
Identification of a New Type 2M von Willebrand Disease Mutation also at Position 1324 of von Willebrand Factor
Thrombosis and Haemostasis·2002· 16 cited
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function
Best Practice & Research Clinical Haematology·2001· 44 cited
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology
Best Practice & Research Clinical Haematology·2001· 116 cited
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· 36 cited
A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms
Thrombosis and Haemostasis·2001· 50 cited
A standard nomenclature for von Willebrand factor gene mutations and polymorphisms On behalf of von Willebrand Factor Subcommittee of the Scientific and Standardization Committe of the International Society on Thrombosis and Haemostasis
2000
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· 22 cited
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu
British Journal of Haematology·1998· 10 citedOpen Access
Platelet Activation and Aggregation Induced by Recombinant von Willebrand Factors Reproducing Four Type 2B von Willebrand Disease Missense Mutations
Thrombosis and Haemostasis·1998· 18 cited
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.
PubMed·1997· 96 cited
Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene
Thrombosis and Haemostasis·1997· 94 cited
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Frequent Co-authors

Claudine Mazurier(24), Dominique Meyer(8), Christine Gaucher(7), Jenny Goudemand(6), E Fressinaud(6), Anne‐Sophie Ribba(6), Édith Fressinaud(4), Claudine Caron(3), Sylvie Jorieux(3), Francesco Rodeghiero(3), Christophe de Romeuf(3), Suzanne Colin(3), Sandrine Heusser(3), Michel Dauça(3), Jeroen Eikenboom(2), Dominique Meyer(2), Augusto B. Federici(2), I. R. Peake(2), Anne Goodeve(2), MH Horellou(2)