Výsledky vyhledávání - "Réka, Gindele"

Akademický článek

Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases

Autor: Zsuzsanna Bereczky, Réka Gindele, Szilvia Fiatal, Marianna Speker, Tünde Miklós, László Balogh, Zoltán Mezei, Zsuzsanna Szabó, Róza Ádány

Publikováno v: Frontiers in Cardiovascular Medicine, Vol 7 (2021)

Background: Antithrombin (AT) is one of the most important regulator of hemostasis. AT Budapest 3 (ATBp3) is a prevalent type II heparin-binding site (IIHBS) deficiency due to founder effect. Thrombosis is a complex disease including arterial (ATE) a

Externí odkaz: https://doaj.org/article/c8503f5cc9c94c6ba830f95bc1db18bb

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Akademický článek

Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia

Autor: Tamás Major, Csaba Csobay-Novák, Réka Gindele, Zsuzsanna Szabó, László Bora, Natália Jóni, Tamás Rácz, Tamás Karosi, Zsuzsanna Bereczky

Publikováno v: Journal of International Medical Research, Vol 48 (2020)

Hereditary haemorrhagic telangiectasia (HHT; Osler–Weber–Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative wi

Externí odkaz: https://doaj.org/article/82f073717eab40d6a09c4c7607c71d6b

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Akademický článek

Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods

Autor: Réka Gindele, Krisztina Pénzes-Daku, Gábor Balogh, Judit Kállai, Réka Bogáti, Bálint Bécsi, Ferenc Erdődi, Éva Katona, Zsuzsanna Bereczky

Publikováno v: Biomolecules, Vol 11, Iss 4, p 544 (2021)

Antithrombin (AT) is a serine protease inhibitor, its activity is highly accelerated by heparin. Mutations at the heparin-binding region lead to functional defect, type II heparin-binding site (IIHBS) AT deficiency. The aim of this study was to inves

Externí odkaz: https://doaj.org/article/f502af7ffe504ea482bb9d1edd87e030

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Akademický článek

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing

Autor: Réka Gindele, Adrienne Kerényi, Judit Kállai, György Pfliegler, Ágota Schlammadinger, István Szegedi, Tamás Major, Zsuzsanna Szabó, Zsuzsa Bagoly, Csongor Kiss, János Kappelmayer, Zsuzsanna Bereczky

Publikováno v: Life, Vol 11, Iss 3, p 202 (2021)

Diagnosis of rare bleeding disorders is challenging and there are several differential diagnostics issues. Next-generation sequencing (NGS) is a useful tool to overcome these problems. The aim of this study was to demonstrate the usefulness of molecu

Externí odkaz: https://doaj.org/article/701e79842d7344f49c5b1ac8c1499b3c

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High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome

Publikováno v: American Journal of Hematology. 96:1363-1373

Atresia of inferior vena cava (IVC) is a rare congenital malformation associated with high risk of venous thrombosis that still has unknown etiology, although intrauterine IVC thrombosis has been suggested to be involved. The identification of IVC at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50742fe85bdd01f647bd2ec0234b6bca
https://doi.org/10.1002/ajh.26304

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Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary

Autor: Tamás Major, Zsuzsanna Bereczky, Réka Gindele, Gábor Balogh, Benedek Rácz, László Bora, Zsolt Kézsmárki, Boglárka Brúgós, György Pfliegler

Publikováno v: Journal of Clinical Medicine
Volume 10
Issue 17
Journal of Clinical Medicine, Vol 10, Iss 3774, p 3774 (2021)

Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::95cb5f3c2179fca87230349181dba0f9

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rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics

Autor: Gyula, Remenyi, Zsuzsanna, Bereczky, Réka, Gindele, Aniko, Ujfalusi, Arpad, Illes, Miklos, Udvardy

Publikováno v: Pathology and Oncology Research

Increased red blood cell count may result from primary erythrocytosis (polycythemia vera), but it is often due to secondary causes with increased erythropoietin levels. Secondary erythrocytosis may also be congenital due to different gene mutations o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::da6f67388d3bf81ad476086bda1a9ef5
https://pubmed.ncbi.nlm.nih.gov/34899081

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A herediter haemorrhagiás teleangiectasia (Osler–Weber–Rendu-kór) genetikai diagnosztikája

Autor: László Bora, Natália Jóni, Péter Bárdossy, Zsuzsanna Kis, Tamás Rácz, Réka Gindele, Tamás Major, Tamás Karosi, Zsuzsanna Szabó, Zsuzsanna Bereczky

Publikováno v: Orvosi Hetilap. 160:710-719

Abstract: Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 – 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3818ca2ccad9669f2af16972becb5269
https://doi.org/10.1556/650.2019.31380

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Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center

Autor: György Pfliegler, Ágota Schlammadinger, Zsuzsanna Bereczky, Réka Gindele, Erzsébet Marján, Ágnes Nagy, Anna Selmeczi, László Muszbek, Zsolt Oláh, László Nemes, Hajna Losonczy, Gábor Balogh, István Komáromi, Zoltán Boda, Péter Ilonczai, Katalin Rázsó, Mirjana Kovac, Gorana Mitic

Publikováno v: Thrombosis Research. 160:119-128

Introduction Inherited antithrombin (AT) deficiency is a heterogeneous disease. Due to low prevalence, only a few studies are available concerning genotype-phenotype associations. The aim was to describe the clinical, laboratory and genetic character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53b80fa5a214159456d39e0dc89c01c
https://doi.org/10.1016/j.thromres.2017.10.023

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Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia

Autor: Tamás Major, Csaba Csobay-Novák, Réka Gindele, Zsuzsanna Szabó, László Bora, Natália Jóni, Tamás Rácz, Tamás Karosi, Zsuzsanna Bereczky

Publikováno v: The Journal of International Medical Research
Journal of International Medical Research, Vol 48 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8145ab1c1ae54455d1ee44e1ee45ef00
https://pubmed.ncbi.nlm.nih.gov/31510822

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