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Results: 1-10 |
Results: 10
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function
Authors: Meyer, D Fressinaud, E Hilbert, L Ribba, AS Lavergne, JM Mazurier, C
Citation: D. Meyer et al., Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function, BEST P R C, 14(2), 2001, pp. 349-364
Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation
Authors: Bauduer, F Ducout, L Bendriss, P Falaises, B Lavergne, JM
Citation: F. Bauduer et al., Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation, HAEMOPHILIA, 7(4), 2001, pp. 419-421
Ser968Thr mutation within the A3 domain of von Willebrand Factor (VWF) in two related patients leads to a defective binding of VWF to collagen
Authors: Ribba, AS Loisel, I Lavergne, JM Juhan-Vague, I Obert, B Cherel, G Meyer, D Girma, JP
Citation: As. Ribba et al., Ser968Thr mutation within the A3 domain of von Willebrand Factor (VWF) in two related patients leads to a defective binding of VWF to collagen, THROMB HAEM, 86(3), 2001, pp. 848-854
Functional mapping of anti-factor IX inhibitors developed in patients withsevere hemophilia B
Authors: Christophe, OD Lenting, PJ Cherel, G Boon-Spijker, M Lavergne, JM Boertjes, R Briquel, ME de Goede-Bolder, A Goudemand, J Gaillard, S d'Oiron, R Meyer, D Mertens, K
Citation: Od. Christophe et al., Functional mapping of anti-factor IX inhibitors developed in patients withsevere hemophilia B, BLOOD, 98(5), 2001, pp. 1416-1423
The arginine-552-cysteine (R1315C) mutation within the Al loop of von Willebrand factor induces an abnormal folding with a loss of function resultingin type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor
Authors: Ribba, AS Hilbert, L Lavergne, JM Fressinaud, E Boyer-Neumann, C Ternisien, C Juhan-Vague, I Goudemand, J Girma, JP Mazurier, C Meyer, D
Citation: As. Ribba et al., The arginine-552-cysteine (R1315C) mutation within the Al loop of von Willebrand factor induces an abnormal folding with a loss of function resultingin type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor, BLOOD, 97(4), 2001, pp. 952-959
Somatic mosaicism in hemophilia A: A fairly common event
Authors: Leuer, M Oldenburg, J Lavergne, JM Ludwig, M Fregin, A Eigel, A Ljung, R Goodeve, A Peake, I Olek, K
Citation: M. Leuer et al., Somatic mosaicism in hemophilia A: A fairly common event, AM J HU GEN, 69(1), 2001, pp. 75-87
Fast and efficient mutation detection method using multiplex PCR and cyclesequencing - Application to haemophilia B
Authors: Costa, JM Ernault, P Vidaud, D Vidaud, M Meyer, D Lavergne, JM
Citation: Jm. Costa et al., Fast and efficient mutation detection method using multiplex PCR and cyclesequencing - Application to haemophilia B, THROMB HAEM, 83(2), 2000, pp. 244-247
Somatic mosaicism and compound heterozygosity in female hemophilia B
Authors: Costa, JM Vidaud, D Laurendeau, I Vidaud, M Fressinaud, E Moisan, JP David, A Meyer, D Lavergne, JM
Citation: Jm. Costa et al., Somatic mosaicism and compound heterozygosity in female hemophilia B, BLOOD, 96(4), 2000, pp. 1585-1587
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIIIC1 domain reduce factor VIII binding to von Willebrand factor
Authors: Jacquemin, M Lavend'homme, R Benhida, A Vanzieleghem, B d'Oiron, R Lavergne, JM Brackmann, HH Schwaab, R VandenDriessche, T Chuah, MKL Hoylaerts, M Gilles, JGG Peerlinck, K Vermylen, J Saint-Remy, JMR
Citation: M. Jacquemin et al., A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIIIC1 domain reduce factor VIII binding to von Willebrand factor, BLOOD, 96(3), 2000, pp. 958-965
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
Authors: Favier, R Lavergne, JM Costa, JM Garon, C Mazurier, C Viemont, M Delpech, M Valleix, S
Citation: R. Favier et al., Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female, BLOOD, 96(13), 2000, pp. 4373-4375
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