Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution
Guillet, Benoît, Lambert, Thierry, d'Oiron, Roseline, Proulle, Valérie, Plantier, Jean-Luc, Rafowicz, Anne, Peynet, Jocelyne, Costa, Jean-Marc, Bendelac, Laurence, Laurian, Yves, Lavergne, Jean-Maurice
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
Get full text
Journal Article
Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development
d’Oiron, Roseline, Lavergne, Jean-Maurice, Lavend’homme, Renaud, Benhida, Abdellah, Bordet, Jean-Claude, Negrier, Claude, Peerlinck, Kathelijne, Vermylen, Jos, Saint-Remy, Jean-Marie, Jacquemin, Marc
Published in Blood (01.01.2004)
Published in Blood (01.01.2004)
Get full text
Journal Article
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A
Mazurier, Claudine, Parquet‐Gernez, Armelle, Gaucher, Christine, Lavergne, Jean‐Maurice, Goudemand, Jenny
Published in British journal of haematology (01.11.2002)
Published in British journal of haematology (01.11.2002)
Get full text
Journal Article
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease
Stepanian, Alain, Ribba, Anne‐Sophie, Lavergne, Jean‐Maurice, Fressinaud, Edith, Juhan‐Vague, Irene, Mazurier, Claudine, Girma, Jean‐Pierre, Meyer, Dominique
Published in British journal of haematology (01.02.2003)
Published in British journal of haematology (01.02.2003)
Get full text
Journal Article
Somatic Mosaicism in Hemophilia A: A Fairly Common Event
Leuer, Marco, Oldenburg, Johannes, Lavergne, Jean-Maurice, Ludwig, Michael, Fregin, Andreas, Eigel, Anton, Ljung, Rolf, Goodeve, Anne, Peake, Ian, Olek, Klaus
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
Get full text
Journal Article
Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen
Ribba, A S, Loisel, I, Lavergne, J M, Juhan-Vague, I, Obert, B, Cherel, G, Meyer, D, Girma, J P
Published in Thrombosis and haemostasis (01.09.2001)
Published in Thrombosis and haemostasis (01.09.2001)
Get more information
Journal Article
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female
Favier, Rémi, Lavergne, Jean-Maurice, Costa, Jean-Marc, Caron, Claudine, Mazurier, Claudine, Viémont, Michèle, Delpech, Marc, Valleix, Sophie
Published in Blood (15.12.2000)
Published in Blood (15.12.2000)
Get full text
Journal Article
Functional mapping of anti–factor IX inhibitors developed in patients with severe hemophilia B
Christophe, Olivier D., Lenting, Peter J., Cherel, Ghislaine, Boon-Spijker, Mariette, Lavergne, Jean-Maurice, Boertjes, Ria, Briquel, Marie-Elisabeth, de Goede-Bolder, Arja, Goudemand, Jenny, Gaillard, Solange, d'Oiron, Roseline, Meyer, Dominique, Mertens, Koen
Published in Blood (01.09.2001)
Published in Blood (01.09.2001)
Get full text
Journal Article
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function
Meyer, Dominique, Fressinaud, Edith, Hilbert, Lysiane, Ribba, Anne-Sophie, Lavergne, Jean-Maurice, Mazurier, Claudine
Published in Best practice & research. Clinical haematology (01.06.2001)
Published in Best practice & research. Clinical haematology (01.06.2001)
Get full text
Journal Article
Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior
Attree, Oliver, Vidaud, Dominique, Vidaud, Michel, Amselem, Serge, Lavergne, Jean-Maurice, Goossens, Michel
Published in Genomics (San Diego, Calif.) (01.04.1989)
Published in Genomics (San Diego, Calif.) (01.04.1989)
Get full text
Journal Article
Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
Tartary, M, Vidaud, D, Piao, Y, Costa, J M, Bahnak, B R, Fressinaud, E, Congard, B, Laurian, Y, Meyer, D, Lavergne, J M
Published in British journal of haematology (01.08.1993)
Published in British journal of haematology (01.08.1993)
Get more information
Journal Article
Comparison of the primary structure of the functional domains of human and porcine von Willebrand factor that mediate platelet adhesion
Bahnak, Bruce R., Lavergne, Jean-Maurice, Ferreira, Valérie, Kerbiriou-Nabias, Danièle, Meyer, Dominique
Published in Biochemical and biophysical research communications (31.01.1992)
Published in Biochemical and biophysical research communications (31.01.1992)
Get full text
Journal Article
A novel case of compound heterozygosity with "Normandy"/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD
Siguret, V, Lavergne, J M, Chérel, G, Boyer-Neumann, C, Ribba, A S, Bahnak, B R, Meyer, D, Piétu, G
Published in Human genetics (01.02.1994)
Published in Human genetics (01.02.1994)
Get more information
Journal Article
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling
Vidaud, D, Tartary, M, Costa, J M, Bahnak, B R, Gispert-Sanchez, S, Fressinaud, E, Gazengel, C, Meyer, D, Goossens, M, Lavergne, J M
Published in Human genetics (01.04.1993)
Published in Human genetics (01.04.1993)
Get more information
Journal Article
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor
Jacquemin, Marc, Lavend'homme, Renaud, Benhida, Abdellah, Vanzieleghem, Beatrijs, d'Oiron, Roseline, Lavergne, Jean-Maurice, Brackmann, Hans H., Schwaab, Rainer, VandenDriessche, Thierry, Chuah, Marinee K. L., Hoylaerts, Marc, Gilles, Jean Guy G., Peerlinck, Kathelijne, Vermylen, Jos, Saint-Remy, Jean-Marie R.
Published in Blood (01.08.2000)
Published in Blood (01.08.2000)
Get full text
Journal Article
Haemophilia A Genotype and Inhibitor Risk: Preliminary Results of a French Haemophilia Centre
Borel-Derlon, Annie, Slaoui, Mounia, Costa, Jean Marc, Lavergne, Jean Maurice
Published in Blood (16.11.2004)
Published in Blood (16.11.2004)
Get full text
Journal Article
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M
Stepanian, Alain, Anne-Sophie Ribba, Jean-Maurice Lavergne, Fressinaud, Edith
Published in British journal of haematology (01.02.2003)
Get full text
Published in British journal of haematology (01.02.2003)
Journal Article