Lysiane Hilbert

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.

Dominique Meyer, E Fressinaud, Céline Gaucher et al. · PubMed · 1997 · 96 citations

Genetics, Genetic Epidemiology, Pathology +18

Gene Defects in 150 Unrelated French Cases with Type 2 von Willebrand Disease: from the Patient to the Gene

Dominique Meyer, E Fressinaud, Christine Gaucher et al. · Thrombosis and Haemostasis · 1997 · 94 citations

Mendelian Disorder, Genetic Disorder, Medicine +10

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 [see comments]

Lysiane Hilbert, Christine Gaucher, Claudine Mazurier · Blood · 1995 · 65 citations · Full text

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

Jeroen Eikenboom, Lysiane Hilbert, Anne‐Sophie Ribba et al. · Journal of Thrombosis and Haemostasis · 2009 · 61 citations

Type 1, Autoimmune Disease, Disease Mechanism +9

Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease

Lysiane Hilbert, Christine Gaucher, Christophe de Romeuf et al. · Blood · 1994 · 52 citations · Full text