Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome)
Veyradier, A., Lavergne, J‐M., Ribba, A‐S., Obert, B., Loirat, C., Meyer, D., Girma, J‐P.
Published in Journal of thrombosis and haemostasis (01.03.2004)
Published in Journal of thrombosis and haemostasis (01.03.2004)
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Occurrence of myeloproliferative disorder in patients with Noonan syndrome
Bader-Meunier, B., Tchernia, G., Miélot, F., Fontaine, J.L., Thomas, C., Lyonnet, S., Lavergne, J.M., Dommergues, J.P.
Published in The Journal of pediatrics (01.06.1997)
Published in The Journal of pediatrics (01.06.1997)
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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)
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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)
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Identification of intron 1 and 22 inversion mutations in the factor VIII gene of 124 Iranian families with severe haemophilia A
Rastegar lari, G., Enayat, M. S., Arjang, Z., Lavergne, J. M., Ala, F.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2004)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2004)
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Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development
REPESSÉ, Y., SLAOUI, M., FERRANDIZ, D., GAUTIER, P., COSTA, C., COSTA, J. M., LAVERGNE, J. M., BOREL‐DERLON, A.
Published in Journal of thrombosis and haemostasis (01.07.2007)
Published in Journal of thrombosis and haemostasis (01.07.2007)
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Refractory anaemia and mitochondrial cytopathy in childhood
Bader-Meunier, B, Rötig, A, Mielot, F, Lavergne, J M, Croisille, L, Rustin, P, Landrieu, P, Dommergues, J P, Munnich, A, Tchernia, G
Published in British journal of haematology (01.06.1994)
Published in British journal of haematology (01.06.1994)
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Factor VIII genotype and inhibitor development in patients with haemophilia A: highest risk in patients with splice site mutations
BOEKHORST, J., LARI, G. R., D'OIRON, R., COSTA, J. M., NOVÁKOVÁ, I. R. O., ALA, F. A., LAVERGNE, J. M., VAN HEERDE, W. L.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2008)
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Discrepancy Between IIA Phenotype and IIB Genotype in a Patient With a Variant of von Willebrand Disease
Ribba, A.S., Christophe, O., Derlon, A., Cherel, G., Siguret, V., Lavergne, J.M., Girma, J.P., Meyer, D., Pietu, G.
Published in Blood (01.02.1994)
Published in Blood (01.02.1994)
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Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
Tuddenham, E.G.D., Schwaab, R., Seehafer, J., Millar, D.S., Gitschier, J., Higuchi, M., Bidichandani, S., Connor, J.M., Hoyer, L.W., Yoshioka, A., Peake, I.R., Olek, K., Kazazian, H.H., Lavergne, J.-M., Giannelli, F., Antonarakis, S.E., Cooper, D.N.
Published in Nucleic acids research (01.09.1994)
Published in Nucleic acids research (01.09.1994)
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Mild haemophilia A discovered in a previously multi‐operated 73‐year‐old man: characterization of a new mutation
Bauduer, F., Ducout, L., Bendriss, P., Falaises, B., Lavergne, J. M.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2001)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.07.2001)
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Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX
Lavergne, J M, De Paillette, L, Bahnak, B R, Ribba, A S, Fressinaud, E, Meyer, D, Pietu, G
Published in British journal of haematology (01.09.1992)
Published in British journal of haematology (01.09.1992)
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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)
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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)
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Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression
Lavergne, J M, Piao, Y, Ribba, A S, Girma, J P, Siguret, V, Piétu, G, Boyer-Neumann, C, Schandelong, A, Bahnak, B R, Meyer, D
Published in Thrombosis and haemostasis (18.10.1993)
Published in Thrombosis and haemostasis (18.10.1993)
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Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease
RIBBA, A. S, LAVERGNE, J. M, BAHNAK, B. R, DERLON, A, PIETU, G, MEYER, D
Published in Blood (01.10.1991)
Published in Blood (01.10.1991)
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Myelodysplasia in childhood may be a polyclonal disease
Tchernia, G, Bader-Meunier, B, Lavergne, J M, Miélot, F, Dommergues, J P
Published in Hematology and cell therapy (01.08.1996)
Published in Hematology and cell therapy (01.08.1996)
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