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Novel diagnostic and molecular genetic aspects of severe inherited thrombophilia (antithrombin, protein C and protein S deficiencies)
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List of publications |
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Bereczky Z, Kovács KB, Bárdos H, Pataki I, Balla G, Pfliegler G, Haramura G, Komáromi I, Ádány R, Muszbek L: Diagnostic considerations based on the experience of genetic analysis in Protein C deficiency and molecular characterization of different mutations, CLIN CHEM LAB MED 52: (9) eA68-eA69, 2014 | Bereczky Z, Miklós T, Kovács KB, Oláh Z, Pfliegler G, Kerényi A, Bárdos H, Pataki I, Balla G, Komáromi I, Boda Z, Muszbek L: Protein C és S deficienciák hátterének molekuláris genetikai vizsgálata, genotípus-fenotípus összefüggések feltárása, diagnosztikus ajánlások a Leiden mutáció interferáló hatásának tükrében, METABOLIZMUS XII.: (4) 247, 2014 | Gindele R, Udvari Á, Speker M, Oláh Z, Selmeczi A, Schlammadinger Á, Bárdos H, Fekete A, Komáromi I, Haramura G, Boda Z, Muszbek L, Bereczky Z: Új antitrombin mutációk biokémiai karakterizálása, METABOLIZMUS XII.: (4) 249, 2014 | Kovács S, Miklós T, Szabó Z, Balogh L, Molnár É, Bereczky Z: Antitrombin, Protein C, Protein S és EPCR gén polimorfizmusok vizsgálata nagy áteresztőképességű módszerrel, METABOLIZMUS XII.: (4) 253-254, 2014 | Speker M, Udvari Á, Gindele R, Selmeczi A, Oláh Z, Schlammadinger Á, Rázsó K, Ilonczai P, Marján E, Boda Z, Pfliegler G, Muszbek L, Bereczky Z: Antitrombin Budapest 3 mutáció alapító hatásának igazolása genetikai markerekkel a magyarországi thrombophiliás populációban, METABOLIZMUS XII.: (4) 261, 2014 | Udvari Á, Speker M, Gindele R, Balogh L, Mezei Z, Kerényi A, Bagoly Z, Kiss C, Muszbek L, Bereczky Z: Antitrombin Cambridge II és Budapest 3 mutációk vizsgálata artériás érbetegségekben és gyermekkori vénás trombózisban, METABOLIZMUS XII.: (4) 262-263, 2014 | Kovács KB, Pataki I, Bárdos H, Fekete A, Pfliegler G, Haramura G, Gindele R, Komáromi I, Balla G, Ádány R, Muszbek L, Bereczky Z: Molecular characterization of p.Asp77Gly nad the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency, THROMB RES xx: (xx) xx, 2015 | Szilagyi S, Peter A, Magyar MT, Balogh S, Bereczky Z: Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level in an adolescent patient., J PEDIAT HEMATOL ONC 34: (4) 276-279, 2012 | Kovacs Bettina, Bereczky Zsuzsanna, Selmeczi Anna, Gindele Reka, Olah Zsolt, Kerenyi Adrienne, Boda Zoltan, Muszbek Laszlo: Progressive chromogenic anti-factor Xa assay and its use in the classification of antithrombin deficiencies, CLIN CHEM LAB MED 52: (12) 1797-1806, 2014 | Kovacs B, Bereczky Z, Olah Z, Gindele R, Kerenyi A, Selmeczi A, Boda Z, Muszbek L: The Superiority of Anti-FXa Assay Over Anti-FIIa Assay in Detecting Heparin-Binding Site Antithrombin Deficiency, AM J CLIN PATHOL 140: (5) 675-679, 2013 | Tóth L, Fekete A, Balogh G, Bereczky Z, Komáromi I: Dynamic properties of the native free antithrombin from molecular dynamics simulations: computational evidence for solvent- exposed Arg393 side chain, J BIOMOL STRUCT DYN x: xx, 2015 | Kovac M, Mitic G, Miljic P, Mikovic Z, Mandic V, Djordjevic V, Radojkovic D, Bereczky Z, Muszbek L: Poor pregnancy outcome in women with homozygous type-II HBS antithrombin deficiency., THROMB RES 133: (6) 1158-1160, 2014 | Gindele R, Udvari Á, Speker M, Oláh Z, Selmeczi A, Schlammadinger Á, Bárdos H, Komáromi I, Fekete A, Haramura G, Muszbek L, Bereczky Z: Molecular characterization of new Antithrombin mutations, CLIN CHEM LAB MED 52: (9) eA66, 2014 | Miklós T, Oláh Z, Schlammadinger Á, Ilonczai P, Pfliegler G, Boda Z, Kovács KB, Gindele R, Szabó Z, Kerényi A, Muszbek L, Bereczky Z: Diagnostic considerations based on the experience of genetic analysis in Protein S deficiency in the Hungarian population with high frequency of FV Leiden mutation, CLIN CHEM LAB MED 52: (9) eA88, 2014 | Speker M, Udvari Á, Gindele R, Selmeczi A, Oláh Z, Boda Z, Muszbek L, Bereczky Z: Prevalence of antithrombin Budapest 3 mutation in the Hungarian thrombophilic population; investigation of a founder effect, CLIN CHEM LAB MED 52: (9) eA86-eA87, 2014 | Udvari Á, Speker M, Gindele R, Balogh L, Mezei Z, Kerényi A, Bagoly Z, Kiss C, Muszbek L, Bereczky Z: Investigation of the prevalence of Antithrombin Budapest 3 and Cambridge II mutations in patients with arterial thrombosis and in children with thrombophilia, CLIN CHEM LAB MED 52: (9) eA87, 2014 | Gindele R; Oláh Zs; Pfliegler Gy; Marján E; Losonczy H; Kovács B; Tisza B; Boda Z; Muszbek L; Bereczky Zs: Antitrombin III deficienciák-mutációs spektrum Magyarországon; az antitrombin III Budapest 3 mutáció előfordulása myocardialis infarctuson átesett fiatal betegekben, Absztrakt 9. Hematológia-Transzfuziológia, Vol 45, 2012 | Kovács B; Bereczky Zs; Oláh Zs; Boda Z; Muszbek L: A progresszív anti-FXa meghatározása kromogén módszerrel; szerepe a II-HBS típusú antitrombin III deficiencia diagnosztikájában, Absztrakt 17. Hematológia-Transzfuziológia, Vol 45, 2012 | Kovács KB; Ilonczai P. Gindele R; Szabó Zs; Boda Z; Pfliegler Gy; Muszbek L; Bereczky Zs: Protein C deficiencia-diagnosztikus irányelvek kialakítása a genetikai analízissel szerzett tapasztalatok alapján, Absztrakt 19. Hematológia-Transzfuziológia, Vol 45, 2012 | Szilágyi S; Péter A; Magyar MT; Balogh S; Bereczky Z: Recurrent arterial thrombosis associated with the Antithrombin Basel variant and elevated lipoprotein(a) plasma level in an adolescent patient., J Pediat Hematol Oncol 34: 276-279, 2012 | Kovács B; Bereczky Z; Oláh Z; Gindele R; Kerényi A; Selmeczi A; Boda Z; Muszbek L: The superiority of anti-FXa assay over anti-FIIa assay in detecting heparin binding site antithrombin deficiency, Clinical Chemistry (submitted), 2012 | Kovács B; Bereczky Z; Oláh Z; Gindele R; Kerényi A; Selmeczi A; Boda Z; Muszbek L: The superiority of anti-FXa assay over anti-FIIa assay in detecting heparin binding site antithrombin deficiency, American Journal of Clinical Pathology, 2013 | Bereczky Z; Kovács KB; Ilonczai P; Gindele R; Boda Z; Pfliegler G; Muszbek L: New diagnostic considerations based on the experience of genetic analysis in Protein C deficiency, ISTH 2013 OC78.2, 2013 | Bereczky Z; Gindele R; Oláh Z; Pfliegler G; Losonczy H; Kovács B; Selmeczi A; Boda Z; Muszbek L: Mutation spectrum of antithrombin deficiency in Hungary; prevalence of Antithrombin Budapest 3 mutation in patients with venous and arterial thrombosis, ISTH 2013 OC90.3, 2013 | Selmeczi A; Oláh Z; Bereczky Z; Gindele R; Ilonczai P; Schlammadinger A; Rázsó K; Muszbek L; Boda Z: Antithrombin Debrecen (p.Leu173Pro): Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency in a large pedigree, ISTH 2013 OC78.3, 2013 | Kovács B; Bereczky Z; Selmeczi A; Gindele R; Oláh Z; Kerényi A; Boda Z; Muszbek L: Progressive chromogenic anti-factor Xa assay and its use in the classification of antithrombin deficiencies, CCLM (submitted), 2014 | Kovács KB; Pataki I; Bárdos H; Komáromi I; Pfliegler G; Haramura G; Fekete A; Balla G; Ádány R; Muszbek L; Bereczky Z: Molecular characterization of novel protein C mutations (p.Asp77Gly, p.Ala163Val and p.Ala163Glu) causing protein C deficiency, Thromb Res (submitted), 2014 | Herczeg M, Lazar L, Bereczky Z, Kover KE, Timari I, Kappelmayer J, Liptak A, Antus S, Borbas A: Synthesis and Anticoagulant Activity of Bioisosteric Sulfonic-Acid Analogues of the Antithrombin-Binding Pentasaccharide Domain of Heparin, CHEM-EUR J 18: (34) 10643-10652, 2012 | Szilagyi S, Peter A, Magyar MT, Balogh S, Bereczky Z: Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level in an adolescent patient., J PEDIAT HEMATOL ONC 34: (4) 276-279, 2012 | Gindele R, Speker M, Udvari Á, Oláh Z, Pfliegler G, Schlammadinger Á, Rázsó K, Marján E, Losonczy H, Selmeczi A, Boda Z, Muszbek L, Bereczky Z: High prevalence of antithrombin Budapest 3 mutation in Hungary, investigation of founder effect, THROMB RES 133: (S3) S11-S12, 2014 | Miklós T, Oláh Z, Schlammadinger Á, Ilonczai P, Pfliegler G, Boda Z, Kovács KB, Gindele R, Szabó Z, Kerényi A, Muszbek L, Bereczky Z: Diagnostic considerations based on the experience of genetic analysis in Protein S deficiency in the Hungarian population with high frequency of FV Leiden mutation, THROMB RES 133: (S3) S81, 2014 |
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