Somatic Mosaicism in Hemophilia A: A Fairly Common Event

Marco Leuer, Johannes Oldenburg, Jean‐Maurice Lavergne, +7

The American Journal of Human Genetics

GranulocyteSomatic Cell GeneticsGeneticsHematologyMosaicism +1

Mutations in the catalytic domain of human coagulation factor IX: Rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

Oliver Attree, Dominique Vidaud, Michel Vidaud, +3

Genomics

Catalytic DomainDna SequencingNatural SciencesGeneticsGenomic Mechanism +6

A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Marc Jacquemin, Renaud Lavend’homme, Abdellah Benhida, +12

Blood

Cross-reacting material in congenital factor VIII deficiencies (Haemophilia A and von Willebrand's disease)

Dominique Meyer, Jean‐Maurice Lavergne, M J Larrieu, +1

Thrombosis Research

Cross-reacting MaterialVon WillebrandPathogenesisHematologyHaemophilia A +2

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

Rémi Favier, Jean‐Maurice Lavergne, Jean‐Marc Costa, +5

Blood

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

Rémi Favier, Jean‐Maurice Lavergne, Jean‐Marc Costa, +5

Blood

Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis

Michel Tartary, Dominique Vidaud, Ying-Chao Piao, +8

British Journal of Haematology

Immunoradiometric Assay of Factor VIII: Coagulant Antigen using Four Human Antibodies. Study of 27 Cases of Haemophilia A

Jean‐Pierre Girma, Jean‐Maurice Lavergne, Dominique Meyer, +1

British Journal of Haematology

Detection of 95 novel mutations in coagulation factor VIII gene<i>F8</i>responsible for hemophilia A: results from a single institution

Benoît Guillet, Thierry Lambert, Roseline d’Oiron, +8

Human Mutation

Laboratory HematologyAmino AcidGenetic DisorderGeneticsPathogenesis +12

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

Anne‐Sophie Ribba, Lysiane Hilbert, Jean‐Maurice Lavergne, +8

Blood