Hilbert L - Search Results

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. Hilbert L, et al. Thromb Haemost. 2006 Sep;96(3):290-4. doi: 10.1160/TH06-03-0157. Thromb Haemost. 2006. PMID: 16953269

2

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. Hilbert L, et al. Br J Haematol. 2003 Feb;120(4):627-32. doi: 10.1046/j.1365-2141.2003.04163.x. Br J Haematol. 2003. PMID: 12588349 Free article.

3

Type 2N von Willebrand disease.

Mazurier C, Hilbert L. Mazurier C, et al. Among authors: hilbert l. Curr Hematol Rep. 2005 Sep;4(5):350-8. Curr Hematol Rep. 2005. PMID: 16131435

4

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.

Caron C, Hilbert L, Vanhoorelbeke K, Deckmyn H, Goudemand J, Mazurier C. Caron C, et al. Among authors: hilbert l. Br J Haematol. 2006 Jun;133(6):655-63. doi: 10.1111/j.1365-2141.2006.06095.x. Br J Haematol. 2006. PMID: 16704443 Free article.

5

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.

Meyer D, Fressinaud E, Gaucher C, Lavergne JM, Hilbert L, Ribba AS, Jorieux S, Mazurier C. Meyer D, et al. Among authors: hilbert l. Thromb Haemost. 1997 Jul;78(1):451-6. Thromb Haemost. 1997. PMID: 9198195 Review.

6

Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations.

de Romeuf C, Hilbert L, Mazurier C. de Romeuf C, et al. Among authors: hilbert l. Thromb Haemost. 1998 Jan;79(1):211-6. Thromb Haemost. 1998. PMID: 9459349 Clinical Trial.

7

Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.

Hilbert L, Jenkins PV, Gaucher C, Meriane E, Collins PW, Pasi KJ, Mazurier C. Hilbert L, et al. Thromb Haemost. 2000 Aug;84(2):188-94. Thromb Haemost. 2000. PMID: 10959688

8

Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology.

Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Mazurier C, et al. Among authors: hilbert l. Best Pract Res Clin Haematol. 2001 Jun;14(2):337-47. doi: 10.1053/beha.2001.0138. Best Pract Res Clin Haematol. 2001. PMID: 11686103 Review.

9

Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor.

Hilbert L, Fressinaud E, Ribba AS, Meyer D, Mazurier C; INSERM network on molecular abnormalities in von Willebrand disease. Hilbert L, et al. Thromb Haemost. 2002 Apr;87(4):635-40. Thromb Haemost. 2002. PMID: 12008946

10

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. Hilbert L, et al. Br J Haematol. 2004 Oct;127(2):184-9. doi: 10.1111/j.1365-2141.2004.05187.x. Br J Haematol. 2004. PMID: 15461624 Free article. Review.

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