Françoise Boehlen

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Since the discovery that mutations in the 59 untranslated region (UTR) of ANKRD26 are responsible for an autosomal-dominant form of thrombocytopenia (ANKRD26-RT), 21 affected families were reported. A study analyzing this series of patients suggested that ANKRD26-RT is characterized by normal platelet size, moderate thrombocytopenia, and absent or mild(More)
Renal thrombotic microangiopathy (TMA) is a severe complication of systemic lupus erythematosus (SLE), which is associated with the presence of antiphospholipid (aPL) antibodies. In its most fulminant form, TMA leads to a rapid and irreversible end-stage renal failure. Eculizumab, an anti-C5 monoclonal antibody, is a novel therapy of choice for patients(More)
Human genetic variation contributes to differences in susceptibility to HIV-1 infection. To search for novel host resistance factors, we performed a genome-wide association study (GWAS) in hemophilia patients highly exposed to potentially contaminated factor VIII infusions. Individuals with hemophilia A and a documented history of factor VIII infusions(More)
OBJECTIVE To assess the safety of a new platelet count threshold for the definition of maternal thrombocytopenia late in pregnancy. METHODS A platelet count was performed in 6770 pregnant women late in pregnancy and in 6103 of their newborns as well as in a control group of 287 age-matched nonpregnant healthy women. RESULTS The prevalence of maternal(More)
Thrombocytopenia is observed in 6 to 15% of pregnant women at the end of pregnancy, and is usually moderate. Gestational thrombocytopenia (defined as a mild thrombocytopenia, occurring during the 3 rd trimester with spontaneous resolution postpartum and no neonatal thrombocytopenia) is the most common cause of thrombocytopenia during pregnancy but a low(More)
The presence of antiphospholipid antibodies (aPLAs) is associated with arterial or venous thrombosis and/or recurrent fetal loss. The proposed pathogenic mechanisms for aPLA effects include the inflammatory activation of monocytes and endothelial cells. Toll-like receptors (TLRs) are candidate signaling intermediates. The aim of this study was to(More)
PURPOSE The objective of the study was to compare in anticoagulated patients the international normalized ratio (INR) measured with a new capillary whole-blood device, the i-STAT Portable Clinical Analyser, with conventional plasma INR obtained from the central laboratory. PATIENTS AND METHODS Between-cartridge variability was first determined with two(More)
RUNX1 gene alterations are associated with acquired and inherited hematologic malignancies that include familial platelet disorder/acute myeloid leukemia, primary or secondary acute myeloid leukemia, and chronic myelomonocytic leukemia. Recently, we reported that RUNX1-mediated silencing of nonmuscle myosin heavy chain IIB (MYH10) was required for(More)