Publications by authors named "Tomas Freiberger"

102Publications

Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic.

Authors:
Miroslav Prucha Hana Grombirikova Pavel Zdrahal Marketa Bloomfield Zuzana Parackova Tomas Freiberger

Case Reports Immunol 2020 19;2020:8836685. Epub 2020 Dec 19.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

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December 2020

Tangier disease in family with the phenotype of familial hypercholesterolemia.

Authors:
Robin Urbánek Lukáš Tichý Tomáš Freiberger

Vnitr Lek 2020 ;66(7):443-446

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January 2021

Genetics of Familial Hypercholesterolemia: New Insights.

Authors:
Michal Vrablik Lukas Tichý Tomas Freiberger Vladimir Blaha Martin Satny Jaroslav A Hubacek

Front Genet 2020 7;11:574474. Epub 2020 Oct 7.

3rd Department of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czechia.

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October 2020

Inherited C2-complement deficiency: variable clinical manifestation (case reports and review).

Authors:
Pavlína Králíčková Ctirad Andrýs Tomáš Freiberger Jan Krejsek

Vnitr Lek 2020 ;66(2):87-91

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November 2020

Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.

Authors:
Tatiana Kováčová Přemysl Souček Pavla Hujová Tomáš Freiberger Lucie Grodecká

Int J Mol Sci 2020 Sep 8;21(18). Epub 2020 Sep 8.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, 656 91 Brno, Czech Republic.

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September 2020

Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Authors:
Lucie Dušková Lucie Nohelová Tomáš Loja Jana Fialová Petra Zapletalová Kamila Réblová Lukáš Tichý Tomáš Freiberger Lenka Fajkusová

Front Genet 2020 30;11:691. Epub 2020 Jun 30.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czechia.

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June 2020

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

Authors:
Jiri Gurka Lenka Piherova Filip Majer Anna Chaloupka Daniela Zakova Ondrej Pelak Alice Krebsova Petr Peichl Jan Krejci Tomas Freiberger Vojtech Melenovsky Josef Kautzner Tomas Kalina Jakub Sikora Milos Kubanek

ESC Heart Fail 2020 10 13;7(5):2534-2543. Epub 2020 Jul 13.

Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.

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October 2020

The Clinical and Genetic Spectrum of 82 Patients With Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Authors:
Svetlana O Sharapova Małgorzata Skomska-Pawliszak Yulia A Rodina Beata Wolska-Kuśnierz Nel Dabrowska-Leonik Bozena Mikołuć Olga E Pashchenko Srdjan Pasic Tomáš Freiberger Tomáš Milota Renata Formánková Anna Szaflarska Maciej Siedlar Tadej Avčin Gašper Markelj Peter Ciznar Krzysztof Kalwak Sylwia Kołtan Teresa Jackowska Katarzyna Drabko Alenka Gagro Małgorzata Pac Elissaveta Naumova Snezhina Kandilarova Katarzyna Babol-Pokora Dzmitry S Varabyou Barbara H Barendregt Elena V Raykina Tatiana V Varlamova Anna V Pavlova Hana Grombirikova Maruša Debeljak Irina V Mersiyanova Anastasiia V Bondarenko Liudmyla I Chernyshova Larysa V Kostyuchenko Marina N Guseva Jelena Rascon Audrone Muleviciene Egle Preiksaitiene Christoph B Geier Alexander Leiss-Piller Yasuhiro Yamazaki Tomoki Kawai Jolan E Walter Irina V Kondratenko Anna Šedivá Mirjam van der Burg Natalia B Kuzmenko Luigi D Notarangelo Ewa Bernatowska Olga V Aleinikova

Front Immunol 2020 10;11:900. Epub 2020 Jun 10.

Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.

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June 2020

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.

Authors:
Zuzana Parackova Tomas Milota Petra Vrabcova Jitka Smetanova Michael Svaton Tomas Freiberger Veronika Kanderova Anna Sediva

Cell Death Dis 2020 06 8;11(6):430. Epub 2020 Jun 8.

Department of Immunology, 2nd Faculty of Medicine Charles University, University Hospital in Motol, V Uvalu 84, Prague, Czech Republic.

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June 2020

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.

Authors:
Tomas Kalina Marina Bakardjieva Maartje Blom Martin Perez-Andres Barbara Barendregt Veronika Kanderová Carolien Bonroy Jan Philippé Elena Blanco Ingrid Pico-Knijnenburg Jitse H M P Paping Beata Wolska-Kuśnierz Malgorzata Pac Jakub Tkazcyk Filomeen Haerynck Himmet Haluk Akar Renata Formánková Tomáš Freiberger Michael Svatoň Anna Šedivá Sonia Arriba-Méndez Alberto Orfao Jacques J M van Dongen Mirjam van der Burg

Front Immunol 2020 19;11:371. Epub 2020 Mar 19.

Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands.

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March 2020

Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside.

Authors:
Kristyna Polaskova Tomas Merta Alexandra Martincekova Danica Zapletalova Michal Kyr Pavel Mazanek Zdenka Krenova Peter Mudry Marta Jezova Jiri Tuma Jarmila Skotakova Ivana Cervinkova Dalibor Valik Lenka Zdrazilova-Dubska Hana Noskova Karol Pal Ondrej Slaby Pavel Fabian Sarka Kozakova Jakub Neradil Renata Veselska Veronika Kanderova Ondrej Hrusak Tomas Freiberger Giannoula Lakka Klement Jaroslav Sterba

Front Oncol 2019 7;9:1531. Epub 2020 Feb 7.

Department of Pediatric Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czechia.

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February 2020

Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.

Authors:
Pavla Hujová Přemysl Souček Lucie Grodecká Hana Grombiříková Barbora Ravčuková Pavel Kuklínek Roman Hakl Jiří Litzman Tomáš Freiberger

J Clin Immunol 2020 04 25;40(3):435-446. Epub 2020 Jan 25.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

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April 2020

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.

Authors:
Katherine A Wilemon Jasmine Patel Carlos Aguilar-Salinas Catherine D Ahmed Mutaz Alkhnifsawi Wael Almahmeed Rodrigo Alonso Khalid Al-Rasadi Lina Badimon Luz M Bernal Martin P Bogsrud Lynne T Braun Liam Brunham Alberico L Catapano Kristyna Cillíková Pablo Corral Regina Cuevas Joep C Defesche Olivier S Descamps Sarah de Ferranti Jean-Luc Eiselé Gerardo Elikir Emanuela Folco Tomas Freiberger Francesco Fuggetta Isabel M Gaspar Ákos G Gesztes Urh Grošelj Ian Hamilton-Craig Gabriele Hanauer-Mader Mariko Harada-Shiba Gloria Hastings G Kees Hovingh Maria C Izar Allison Jamison Gunnar N Karlsson Meral Kayikçioglu Sue Koob Masahiro Koseki Stacey Lane Marcos M Lima-Martinez Greizy López Tania L Martinez David Marais Letrillart Marion Pedro Mata Inese Maurina Diana Maxwell Roopa Mehta George A Mensah André R Miserez Dermot Neely Stephen J Nicholls Atsushi Nohara Børge G Nordestgaard Leiv Ose Athanasios Pallidis Jing Pang Jules Payne Amy L Peterson Monica P Popescu Raman Puri Kausik K Ray Ashraf Reda Tiziana Sampietro Raul D Santos Inge Schalkers Laura Schreier Michael D Shapiro Eric Sijbrands Daniel Soffer Claudia Stefanutti Mario Stoll Rody G Sy Martha L Tamayo Myra K Tilney Lale Tokgözoglu Brian Tomlinson Antonio J Vallejo-Vaz Alejandra Vazquez-Cárdenas Patrícia Vieira de Luca David S Wald Gerald F Watts Nanette K Wenger Michaela Wolf David Wood Aram Zegerius Thomas A Gaziano Samuel S Gidding

JAMA Cardiol 2020 02;5(2):217-229

Familial Hypercholesterolemia Foundation, Pasadena, California.

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February 2020

Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.

Authors:
Uma Ramaswami Marta Futema Martin P Bogsrud Kirsten B Holven Jeanine Roeters van Lennep Albert Wiegman Olivier S Descamps Michal Vrablik Tomas Freiberger Hans Dieplinger Susanne Greber-Platzer Gabriele Hanauer-Mader Mafalda Bourbon Euridiki Drogari Steve E Humphries

Atherosclerosis 2020 01 15;292:178-187. Epub 2019 Nov 15.

Centre for Cardiovascular Genetics, Institute for Cardiovascular Science, University College London, London, UK. Electronic address:

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January 2020

Plasma Levels of Myocardial MicroRNA-133a Increase by Intraoperative Cytokine Hemoadsorption in the Complex Cardiovascular Operation.

Authors:
Robert Wagner Premysl Soucek Jiri Ondrasek Petr Fila Jan Sterba Hana Spacilova Alzbeta Michalcikova Tomas Freiberger Petr Nemec

J Clin Med Res 2019 Dec 24;11(12):789-797. Epub 2019 Nov 24.

Department of Cardiovascular Surgery, Centre for Cardiovascular and Transplant Surgery (CKTCH), Pekarska 53, Brno, Czech Republic.

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December 2019

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Authors:
Juan Li Marco Ritelli Cindy S Ma Geetha Rao Tanwir Habib Emilie Corvilain Salim Bougarn Sophie Cypowyj Lucie Grodecká Romain Lévy Vivien Béziat Lei Shang Kathryn Payne Danielle T Avery Mélanie Migaud Soraya Boucherit Sabri Boughorbel Andrea Guennoun Maya Chrabieh Franck Rapaport Benedetta Bigio Yuval Itan Bertrand Boisson Valérie Cormier-Daire Delfien Syx Fransiska Malfait Nicoletta Zoppi Laurent Abel Tomáš Freiberger Harry C Dietz Nico Marr Stuart G Tangye Marina Colombi Jean-Laurent Casanova Anne Puel

Sci Immunol 2019 11;4(41)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

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November 2019

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.

Authors:
Renata Formankova Veronika Kanderova Marketa Rackova Michael Svaton Tomas Brdicka Petr Riha Petra Keslova Ester Mejstrikova Marketa Zaliova Tomas Freiberger Hana Grombirikova Zuzana Zemanova Marcela Vlkova Filip Fencl Ivana Copova Jiri Bronsky Petr Jabandziev Petr Sedlacek Jana Soukalova Ondrej Zapletal Jan Stary Jan Trka Tomas Kalina Karolina Skvarova Kramarzova Eva Hlavackova Jiri Litzman Eva Fronkova

Front Immunol 2019 18;10:2194. Epub 2019 Sep 18.

Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia.

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November 2020

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype.

Authors:
Kristýna Fiedorová Matěj Radvanský Juraj Bosák Hana Grombiříková Eva Němcová Pavlína Králíčková Michaela Černochová Iva Kotásková Matej Lexa Jiří Litzman David Šmajs Tomáš Freiberger

Front Immunol 2019 13;10:1914. Epub 2019 Aug 13.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.

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September 2020

Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period.

Authors:
Tereza Grymova Marcela Vlkova Premysl Soucek Roman Hakl Jana Nechvatalova Peter Slanina Julie Stichova Jiri Litzman Tomas Freiberger

Mediators Inflamm 2019 19;2019:9515628. Epub 2019 May 19.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

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January 2020

The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project.

Authors:
Richard Ceska Gustavs Latkovskis Marat V Ezhov Tomas Freiberger Katarina Lalic Olena Mitchenko Gyorgy Paragh Zaneta Petrulioniene Belma Pojskic Katarina Raslova Aleksandr B Shek Branislav Vohnout Tereza Altschmiedova Veronika Todorovova

Curr Atheroscler Rep 2019 06 22;21(9):36. Epub 2019 Jun 22.

Third Department of Medicine - Department of Endocrinology and Metabolism of the First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

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June 2019