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Jean-Maurice Lavergne

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S Shahbazi; R Mahdian; F A Ala; Jean-Maurice Lavergne; Cécile V Denis; Olivier D Christophe
Molecular characterization of Iranian patients with type 3 von Willebrand disease.
Benoît Guillet; Thierry Lambert; Roseline d'Oiron; VALERIE PROULLE; Jean-Luc Plantier; Anne Rafowicz; Jocelyne Peynet; Jean-Marc Costa; Laurence Bendelac; Yves Laurian; Jean-Maurice Lavergne
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.
Agnès Veyradier; Jean-Maurice Lavergne; Anne-Sophie Ribba; Bernadette Obert; Chantal Loirat; Dominique Meyer; Jean-Pierre Girma
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

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All Publications

2009: S Shahbazi; R Mahdian; F A Ala; Jean-Maurice Lavergne; Cécile V Denis; Olivier D Christophe
Molecular characterization of Iranian patients with type 3 von Willebrand disease.
Haemophilia : the official journal of the World Federation of Hemophilia 2009;15(5):1058-64.
2006: Benoît Guillet; Thierry Lambert; Roseline d'Oiron; VALERIE PROULLE; Jean-Luc Plantier; Anne Rafowicz; Jocelyne Peynet; Jean-Marc Costa; Laurence Bendelac; Yves Laurian; Jean-Maurice Lavergne
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.
Human mutation 2006;27(7):676-85.
2004: Agnès Veyradier; Jean-Maurice Lavergne; Anne-Sophie Ribba; Bernadette Obert; Chantal Loirat; Dominique Meyer; Jean-Pierre Girma
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Journal of thrombosis and haemostasis : JTH 2004;2(3):424-9.
2004: Roseline d'Oiron; Jean-Maurice Lavergne; Renaud Lavend'homme; Abdellah Benhida; Jean Claude Bordet; Claude Negrier; Kathelijne Peerlinck; Jos Vermylen; Jean-Marie Saint-Remy; Marc Jacquemin
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.
Blood 2004;103(1):155-7.
2003: Alain Stepanian; Anne-Sophie Ribba; Jean-Maurice Lavergne; Edith Fressinaud; Irène Juhan-Vague; Claudine Mazurier; Jean-Pierre Girma; Dominique Meyer
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.
British journal of haematology 2003;120(4):643-51.
2002: Claudine Mazurier; Armelle Parquet-Gernez; Christine Gaucher; Jean-Maurice Lavergne; Jenny Goudemand
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.
British journal of haematology 2002;119(2):390-2.
2002: Sophie Valleix; Christine Vinciguerra; Jean-Maurice Lavergne; Marco Leuer; Marc Delpech; Claude Negrier
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.
Blood 2002;100(8):3034-6.
2001: Anne-Sophie Ribba; I Loisel; Jean-Maurice Lavergne; Irène Juhan-Vague; Bernadette Obert; Ghislaine Cherel; Dominique Meyer; Jean-Pierre Girma
Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen.
Thrombosis and haemostasis 2001;86(3):848-54.
2001: Olivier D Christophe; Peter J Lenting; Ghislaine Cherel; M Boon-Spijker; Jean-Maurice Lavergne; Ria C Boertjes; Marie-Elisabeth Briquel; A de Goede-Bolder; Jenny Goudemand; S Gaillard; Roseline d'Oiron; Dominique Meyer; Koen Mertens
Functional mapping of anti-factor IX inhibitors developed in patients with severe hemophilia B.
Blood 2001;98(5):1416-23.
2001: Marco Leuer; Johannes Oldenburg; Jean-Maurice Lavergne; M Ludwig; A Fregin; A Eigel; R Ljung; Anne C Goodeve; Ian R Peake; K Olek
Somatic mosaicism in hemophilia A: a fairly common event.
American journal of human genetics 2001;69(1):75-87.
2001: D Meyer; Edith Fressinaud; Lysiane Hilbert; Anne-Sophie Ribba; Jean-Maurice Lavergne; Claudine Mazurier
Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function.
Best practice & research. Clinical haematology 2001;14(2):349-64.
2001: A N Ribba; Lysiane Hilbert; Jean-Maurice Lavergne; Edith Fressinaud; C Boyer-Neumann; C Ternisien; Irène Juhan-Vague; Jenny Goudemand; Jean-Pierre Girma; Claudine Mazurier; Dominique Meyer
The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
Blood 2001;97(4):952-9.
2000: R Favier; Jean-Maurice Lavergne; J M Costa; C Caron; Claudine Mazurier; M Viémont; Marc Delpech; Sophie Valleix
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.
Blood 2000;96(13):4373-5.
2000: Marc Jacquemin; Renaud Lavend'homme; Abdellah Benhida; Beatrijs Vanzieleghem; Roseline d'Oiron; Jean-Maurice Lavergne; H H Brackmann; R Schwaab; Thierry VandenDriessche; Marinee K L Chuah; Marc F Hoylaerts; Jean-Guy G Gilles; Kathelijne Peerlinck; Jos Vermylen; Jean-Marie Saint-Remy
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor.
Blood 2000;96(3):958-65.
1997: Dominique Meyer; Edith Fressinaud; Christine Gaucher; Jean-Maurice Lavergne; Lysiane Hilbert; Anne-Sophie Ribba; Sylvie Jorieux; Claudine Mazurier
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.
Thrombosis and haemostasis 1997;78(1):451-6.
1997: J Gu; Sylvie Jorieux; Jean-Maurice Lavergne; C Ruan; Claudine Mazurier; Dominique Meyer
A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies.
Blood 1997;89(9):3263-9.
1997: T Nishikubo; Olivier D Christophe; Jean-Maurice Lavergne; Bernadette Obert; K Nonami; Y Takahashi; A Yoshioka; Dominique Meyer; Jean-Pierre Girma
Abnormal proteolytic processing of von Willebrand factor Arg611 Cys and Arg611His.
Thrombosis and haemostasis 1997;77(1):174-82.
1995: Stylianos Antonarakis; Judith P. Rossiter; M Young; J Horst; P de Moerloose; S S Sommer; Rhett P Ketterling; Haig Kazazian ; Claude Négrier; Christine Vinciguerra; Jane Gitschier; Michel Goossens; Emmanuelle Girodon; N Ghanem; F Plassa; Jean-Maurice Lavergne; M Vidaud; J M Costa; Yves Laurian; S W Lin; S R Lin; M C Shen; David Lillicrap; S A Taylor; S Windsor; Sophie Valleix; Khedoudja Nafa; Y Sultan; Marc Delpech; C L Vnencak-Jones; J A Phillips; R C Ljung; E Koumbarelis; AE Gialeraki; Titika Mandalaki; P Vincent Jenkins; P W Collins; K John Pasi; Anne C Goodeve; Ian R Peake; F Eric Preston; Marianne Schwartz; E Scheibel; Jørgen Ingerslev; D N Cooper; D S Millar; V V Kakkar; F Giannelli; J A Naylor; E F Tizzano; Montserrat Baiget; M Domenech; Carme Altisent; J Tusell; M Beneyto; J I Lorenzo; Christine Gaucher; Claudine Mazurier; Kathelijne Peerlinck; Gert Matthijs; J J Cassiman; J Vermylen; Pier Giorgio Mori; M Acquila; Daniela Caprino; H Inaba
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
Blood 1995;86(6):2206-12.
1994: Anne-Sophie Ribba; O Christophe; A Derlon; G Cherel; Virginie Siguret; Jean-Maurice Lavergne; Jean-Pierre Girma; D Meyer; G Pietu
Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.
Blood 1994;83(3):833-41.
1994: Virginie Siguret; Jean-Maurice Lavergne; G Chérel; C Boyer-Neumann; Anne-Sophie Ribba; B R Bahnak; D Meyer; Geneviève Piétu
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.
Human genetics 1994;93(2):95-102.
1993: Jean-Maurice Lavergne; Y Piao; Anne-Sophie Ribba; Jean-Pierre Girma; Virginie Siguret; Geneviève Piétu; C Boyer-Neumann; A Schandelong; B R Bahnak; D Meyer
Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.
Thrombosis and haemostasis 1993;70(4):691-6.
1993: Y C Piao; Jean-Maurice Lavergne; C Boyer-Neumann; A Schandelong; M C Alessi; D Meyer
Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1993;4(5):787-9.
1993: Jean-Maurice Lavergne; Y C Piao; Valerie Ferreira; Danièle Kerbiriou-Nabias; B R Bahnak; D Meyer
Primary structure of the factor VIII binding domain of human, porcine and rabbit von Willebrand factor.
Biochemical and biophysical research communications 1993;194(3):1019-24.
1993: M Tartary; D Vidaud; Y Piao; J M Costa; B R Bahnak; Edith Fressinaud; B Congard; Yves Laurian; D Meyer; Jean-Maurice Lavergne
Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis.
British journal of haematology 1993;84(4):662-9.
1993: D Vidaud; M Tartary; J M Costa; B R Bahnak; S Gispert-Sanchez; Edith Fressinaud; C Gazengel; D Meyer; Michel Goossens; Jean-Maurice Lavergne
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.
Human genetics 1993;91(3):241-4.
1993: D Vidaud; M Vidaud; B R Bahnak; Virginie Siguret; S Gispert Sanchez; Yves Laurian; D Meyer; Michel Goossens; Jean-Maurice Lavergne
Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.
European journal of human genetics : EJHG 1993;1(1):30-6.
1992: Jean-Maurice Lavergne; L De Paillette; B R Bahnak; Anne-Sophie Ribba; Edith Fressinaud; D Meyer; G Pietu
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.
British journal of haematology 1992;82(1):66-72.
1992: Geneviève Piétu; Anne-Sophie Ribba; L de Paillette; G Chérel; Jean-Maurice Lavergne; B R Bahnak; D Meyer
Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1992;3(4):415-21.
1992: B R Bahnak; Jean-Maurice Lavergne; Valerie Ferreira; Danièle Kerbiriou-Nabias; D Meyer
Comparison of the primary structure of the functional domains of human and porcine von Willebrand factor that mediate platelet adhesion.
Biochemical and biophysical research communications 1992;182(2):561-8.
1992: Jean-Maurice Lavergne; B R Bahnak; M Vidaud; Yves Laurian; D Meyer
A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
Nouvelle revue française d'hématologie 1992;34(1):85-91.
1991: Anne-Sophie Ribba; Jean-Maurice Lavergne; B R Bahnak; A Derlon; Geneviève Piétu; D Meyer
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.
Blood 1991;78(7):1738-43.
1991: B R Bahnak; Jean-Maurice Lavergne; Chantal Rothschild; D Meyer
A stop codon in a patient with severe type III von Willebrand disease.
Blood 1991;78(4):1148-9.
1991: Jean-Maurice Lavergne; Yves Laurian; A Dudilleux; M J Larrieu; B R Bahnak; D Meyer
Carrier detection and prenatal diagnosis in 98 families of haemophilia A by linkage analysis and direct detection of mutations.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 1991;2(2):293-301.
1989: O Attree; D Vidaud; M Vidaud; Serge Amselem; Jean-Maurice Lavergne; Michel Goossens
Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior.
Genomics 1989;4(3):266-72.
1988: B R Bahnak; Jean-Maurice Lavergne; C L Verweij; Chantal Rothschild; H Pannekoek; M J Larrieu; D Meyer
Carrier detection in severe (type III) von Willebrand disease using two intragenic restriction fragment length polymorphisms.
Thrombosis and haemostasis 1988;60(2):178-81.
1988: Jean-Maurice Lavergne; B R Bahnak; Z Assouline; Geneviève Piétu; Danièle Kerbiriou-Nabias; P Meulien; A Pavirani; D Meyer
A Taq I polymorphism in the 5' region of the von Willebrand factor (vWF) gene.
Nucleic acids research 1988;16(6):2742.
1987: Jean-Maurice Lavergne; B R Bahnak; C L Verweij; H Pannekoek; D Meyer
A second Xba I polymorphic site within the human von Willebrand factor (vWF) gene.
Nucleic acids research 1987;15(21):9099.
1982: Jean-Pierre Girma; G Pietu; Jean-Maurice Lavergne; D Meyer; M J Larrieu
Abnormal antigenic reactivity of factor VIII/von Willebrand factor subunit in variants of von Willebrand's disease.
The Journal of laboratory and clinical medicine 1982;99(4):481-94.
1980: D Meyer; Bernadette Obert; G Pietu; Jean-Maurice Lavergne; T S Zimmerman
Multimeric structure of factor VIII/von Willebrand factor in von Willebrand's disease.
The Journal of laboratory and clinical medicine 1980;95(4):590-602.