Heterozygous factor V Leiden mutation manifesting with combined central retinal vein occlusion, cilioretinal artery occlusion, branch retinal artery occlusion, and anterior ischaemic optic neuropathy: a case reportCentral retinal vein occlusionCilioretinal artery occlusion...
Idiopathic Budd–Chiari syndrome in a patient with homozygous Factor V Leiden and heterozygous Factor II G20210A mutations Idiopathic Budd-Chiari syndrome in a patient with homozygous factor Leiden and heterozygous Factor G20210A mutation on the prothrombin gene. de Stefano V,... VD Stefano,P Mado...
Homozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the fac... I Martinelli,C Legnani,P Bucciarelli,... - 《Thrombosis & Haemostasis》 被引量: 373发表: 2001年 The clinical outcome after inferior ven...
Summary Background The high allelic frequency of the prothrombotic Leiden polymorphism in human blood coagulation factor V (FV) has been speculated to reflect positive selection during evolution. Heterozygous Leiden carriers enrolled in the placebo arm of the PROWESS sepsis trial and heterozygous Leiden ...
We report here the evolution of the thrombin generation profile while taking combined oral contraceptives and after their discontinuation in a woman with heterozygous factor V Leiden mutation. The proband exhibited a distinctly prothrombotic thrombin generation profile including markedly decreased thrombomodulin...
Activated protein C resistance, caused by a point mutation factor V gene was described in last decade. This article highlights a case of a 9 year-old-boy who admitted to Ba艧kent University Hospital with right- sided hemiplegia. He was diagnosed as heterozygous for the FVL muta- tion and ...
It is well documented that factor V Leiden mutation (FVL) is a common hypercoagulable risk factor in the Caucasian population. Patients with homozygous FVL mutation have an increased risk for venous thromboembolism. However, there have been few cases of heterozygous FVL mutation associated with ...
Presents a letter to the editor regarding a Budd-Chiari syndrome with underlying homozygous factor V Leiden and heterozygous methylenetetrahydrofolate reductase mutations.doi:10.1007/s00535-005-1664-2Kassem A. BaradaCecilio R. AzarZaher K. Otrock...
Idiopathic Budd–Chiari syndrome in a patient with homozygous Factor V Leiden and heterozygous Factor II G20210A mutations Stefano V,Madonna P,Giannino A. Idiopathic Budd-Chiari Syndrome in a Patient with Homozygous Factor ⅤLeiden and Heterozygous FactorⅡMutations[J]... VD Stefano,P Madonna,A ...
The spouses of those 200 with FVL mutations would then be genotyped, eight of whom would also be heterozygous. Assuming 16 offspring for those eight couples (two per family), four would be homozy- gous. This scenario assumes 100% participation. The preceding example, although subject to ...