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ISTH 2020 Congress

Venous Thromboembolism and Cardioembolism » Genetic Risk Factors of Thrombosis

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  • ISTH 2020 Congress
    • Venous Thromboembolism and Cardioembolism
      • Genetic Risk Factors of Thrombosis

Abstract Number: PB2191

“Gene-gene Interaction” between FXIII-A VAL34LEU and PAI-1 – 675 4G/5G Polymorphisms Can Modify the Risk of Pulmonary Embolism in Young VTE Patients

A. Chechulova1, S. Kapustin2, V. Soldatenkov2, S. Svitina2, A. Tomchenko3, V. Soroka3

Abstract Number: PB2193

“Gene-gene Interaction” between PAI-1 – 675 4G/5G and TNF-A -308 G/A Polymorphisms Can Modulate the Risk of Pulmonary Embolism in Young Patients with Venous Thromboembolism

S. Kapustin1, A. Chechulova2, J. Sidorova1, V. Burakov1, V. Soroka2, V. Soldatenkov1, L. Papayan1

Abstract Number: PB2195

De Novo Variants in Antithrombin Deficiency: Incidence and Heterogeneous Mechanisms

M.E. de la Morena-Barrio1, B. de la Morena-Barrio1, A. Miñano1, R. Teruel-Montoya1, J. Padill1, C. Bravo-Perez1, R. Cifuentes1, J.R. Gonzalez-Porras2, A. Rodriguez-Alen3, M.F. López-Fernández4, F. Velasco5, M.J. Blanco-Bañares6, V. Vicente1, J. Corral1

Abstract Number: PB2189

Afibrinogenemia and Leiden FV Within the Same Family

S. Hadjali-Saichi1, K. Guenounou-Guemmour1, D. Helley-Russick2, P. De Mazancourt3, I. Frigaa1

Abstract Number: PB2188

Assessment of Fibrinolysis Markers in Patients with Lower Limb Deep Venous Thrombosis: A Prospective Case-control Study

S. Sharma1, V. Uppal2, N. Kumar2, H. Renee2, J. Ahluwalia2, R. Das2, N. Varma2, P. Malhotra2

Abstract Number: PB2194

Carrier Frequencies of Antithrombin-, Protein C-, or Protein S-deficient Variants Estimated Using a Public Database and Expression Experiments

K. Maruyama, K. Kokame

Abstract Number: PB2187

Characterisation of a Novel F5 Gene Mutation (Ala2114Asp, Factor V Besançon) Associated with Factor V Deficiency and Recurrent Venous Thrombosis

E. Castoldi1, N. Hézard2, G. Mourey3, K. Wichapong1, M. Ibrahim-Kosta4, M.C.L.G.D. Thomassen1, A. Fournel3, M.-C. Alessi4, T.M. Hackeng1, J. Rosing1, P.-E. Morange4

Abstract Number: PB2186

Clinical and Laboratory Characteristics of Patients with Hereditary Thrombophilias in the North-Western Region of Russia

O. Soldatenkova1,2, V. Soldatenkov1, L. Papayan1, S. Kapustin1, N. Gordeev2, N. Mineeva1, A. Chechetkin1, K. Komissarov1

Abstract Number: PB2199

Decreased Expression of Annexin A2 Is Associated with Reduced Cell Surface Fibrinolysis and Venous Thromboembolism

K. Hajjar, H. Fassel, H. Chen, M. Ruisi, N. Kumar, M. De Sancho

Abstract Number: PB2181

Does blood Group Predicts Thrombosis Risk? A Pilot Study Assessing Thrombin Generation

M. Marcos Jubilar1, D. Terrasa2, M.L. Palacios1, V. Riego1, L.E. Tamariz1, R. Lecumberri1, J.A. Páramo1,3,4

Abstract Number: PB2200

Effects of Body Mass Index on the Human Plasma Proteome – Potential Drivers of Obesity-related Cardiovascular Disease?

L. Goudswaard1,2,3, J.A. Bell2,3, D.M. Hughes3, K. Walter4, N. Soranzo4, A. Adam Butterworth5, I. Hers1, N.J. Timpson2,3

Abstract Number: PB2182

Genetic Study for Idiopathic Venous Thromboembolism in Japanese Using Short-Read and Long Read Sequencers: A Pilot Study of Japanese Group of Idiopathic Thromboembolism

A. Tsuji1, A. Sekine2, H. Wada3, E. Morishita4, Y. Ogihara5, K. Nogami6, T. Kojima7, T. Matsushita8, N. Yamada9, T. Ogo1, R. Neki2, K. Kokame2, S. Yasuda1, T. Miyata2

Abstract Number: PB2192

Homozygous State of Leiden Mutation in Factor V Associated with Other Genetic and Biochemical Risk Factors and Late Onset of Thrombotic Episodes in Five Clinical Cases

M. Vukovic1, A. Vulic2, S. Lazarevic3, T. Drljaca3, T. Jaros1

Abstract Number: PB2198

Pulmonary Embolism and Thrombophilia Gene Mutations: Georgian Population Study

T. Mukhuradze1,2, N. Pirtskhelani3,4, K. Kartvelishvili2,3, N. Kochiashvili3, N. Pargalava1,2, M. Bokuchava2,5, L. Makhaldiani6

Abstract Number: PB2185

Role of ADAMTS13, VWF and FVIII in Deep Vein Thrombosis

M.T. Pagliari1, A. Cairo1, M. Boscarino1, I. Mancini2, E. Pappalardo2, I. Martinelli3, F.R. Rosendaal4, F. Peyvandi1,2

Abstract Number: PB2197

Structural Basis of the Pro-coagulant Phenotype of Prothrombin Variant Arg553Trp (p.Arg596Trp – Padua 2)

L. Acquasaliente1, A. Covallero1, D. Peterle2, C. Bulato2, P. Simioni2, V. De Filippis1

Abstract Number: PB2184

The Sex-Related Risk of Venous Thromboembolism Attributed to Recognized Prothrombotic Genotypes

C.A.L. Arnesen1, L.H. Evensen1, K. Hveem2,3, M.E. Gabrielsen2,3, B.M. Brumpton2,4, J.-B. Hansen1,5, S.K. Brækkan1,5

Abstract Number: PB2180

Thrombophilia Gene Screening in Pediatrics Solid Tumors with Thrombosis

O. El Safy1, M. Fathy1, A. Osama2, M. Zakaria1, S. Fehr1, N. Raafat3

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