نتایج جستجو برای: bernard soulier syndrome
تعداد نتایج: 627301 فیلتر نتایج به سال:
Inherited platelet disorders constitute a large group of diseases involving a wide range of genetic defects that can lead to bleeding symptoms of varying severity. They are associated with defects in surface membrane glycoproteins resulting in e.g. Bernard Soulier Syndrome and Glanzmann Thrombasthenia causing defects in platelet adhesion and aggregation, respectively, as well as in receptors fo...
This study demonstrates that when platelets are stimulated by thrombin in the presence of low concentrations of purified human fibrinogen (10 to 20 Lg/mL. final concentration) binding of released platelet von Willebrand factor (plt-vWF) to the platelet membrane is enhanced. This effect appears to be mediated by fibrin monomer produced by the action of thrombin on the fibrinogen in the incubatio...
Président Slim HAMMADI, Professeur, Ecole Centrale de Lille Rapporteur Alain QUILLIOT, Professeur, Université Blaise Pascal, Clermont-Ferrand, Rapporteur Aziz MOUKRIM, Professeur, Université de Technologie de Compiègne Membre Bernard DESCOTES-GENON, Professeur, Université Joseph Fourier, Grenoble Membre Abdelhakim ARTIBA, Professeur, Université de Valenciennes et du Hainaut -Cambrésis Directeur...
MARIA LUISA BRANDI, ROBERT F. GAGEL, ALBERTO ANGELI, JOHN P. BILEZIKIAN, PAOLO BECK-PECCOZ, CESARE BORDI, BERNARD CONTE-DEVOLX, ALBERTO FALCHETTI, RICCARDO GIONATA GHERI, ALFONSO LIBROIA, CORNELIUS J. M. LIPS, GAETANO LOMBARDI, MASSIMO MANNELLI, FURIO PACINI, BRUCE A. J. PONDER, FRANK RAUE, BRITT SKOGSEID, GUIDO TAMBURRANO, RAJESH V. THAKKER, NORMAN W. THOMPSON, PAOLA TOMASSETTI, FRANCESCO TONE...
BACKGROUND AND OBJECTIVES May-Hegglin anomaly (MHA) and Sebastian syndrome (SBS) are inherited macrothrombocytopenias with D hle-like bodies in leukocytes. MHA-SBS are due to mutations of the gene (MYH9) for the heavy chain of non-muscle myosin IIA (NMMHC-IIA), the only myosin II expressed in platelets. The bleeding tendency is often more severe than expected on the basis of platelet count, but...
We investigated the molecular genetic and biosynthetic basis of Bernard-Soulier syndrome in a severely affected white woman. Flow cytometric analysis showed a severe deficiency of glycoprotein (GP) Ib, GP IX, and GP V on the surface of her platelets. Similarly, GP Ib alpha was undetectable by immunoblot analysis of platelet lysates. Surprisingly, a large quantity of a 70-kD protein (which proba...
Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)-like phenotype with inherited deletions of 16p13.11. The first patient was subsequently found on whole exome sequencing to have a non...
A patient with the rare syndrome of simultaneous quinidine-induced thrombocytopenia and leukopenia was studied. A quinidine-dependent antiplatelet antibody was detected in her serum by platelet aggregometry and by indirect platelet-suspension immunofluorescence. A drug-dependent antileukocyte antibody was demonstrated by leukoagglutination and by granulocyte immunofluorescence. Both antibodies ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید