Publications Authored by Tomas Freiberger

Contribution of PCR Denaturing Gradient Gel Electrophoresis Combined with Mixed Chromatogram Software Separation for Complex Urinary Sample Analysis.

Authors:

Iva Kotásková Barbora Mališová Hana Obručová Veronika Holá Tereza Peroutková Filip Růžička Tomáš Freiberger

J Mol Microbiol Biotechnol 2017 20;27(6):350-355. Epub 2017 Dec 20.

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

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http://dx.doi.org/10.1159/000484524	DOI Listing

June 2019

Impact of acceptor splice site NAGTAG motif on exon recognition.

Authors:

Pavla Hujová Lucie Grodecká Přemysl Souček Tomáš Freiberger

Mol Biol Rep 2019 Jun 6;46(3):2877-2884. Epub 2019 Mar 6.

Centre for Cardiovascular Surgery and Transplantation, Pekařská 53, 656 91, Brno, Czech Republic.

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http://dx.doi.org/10.1007/s11033-019-04734-6	DOI Listing

June 2019

Corrigendum to "association between the timing of surgery for complicated, left-sided infective endocarditis and survival", American HeartJournal 2019, volume 210, April 2019, pages 108-116.

Authors:

Andrew Wang Vivian H Chu Eugene Athan Francois Delahaye Tomas Freiberger Cristiane Lamas Jose M Miro Jacob Strahilevitz Christophe Tribouilloy Emanuele Durante-Mangoni Juan M Pericas Nuria Fernández-Hidalgo Francisco Nacinovich Bruno Barsic Efthymia Giannitsioti John P Hurley Margaret M Hannan Lawrence P Park

Am Heart J 2019 Jun 16;212:165. Epub 2019 Apr 16.

Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ahj.2019.03.006	DOI Listing

June 2019

[MedPed - the reality of familial hypercholesterolemia care at the biggest center].

Authors:

Martina Vaclová Tomáš Freiberger Lucie Schwarzová Lukáš Tichý Michal Vrablík Richard Češka

Vnitr Lek Winter 2018;64(1):38-42

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May 2019

Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Complex.

Authors:

Iva Kotásková Hana Obručova Veronika Lýčková Filip Růžička Tomáš Freiberger

J Clin Microbiol 2019 May 26;57(5). Epub 2019 Apr 26.

Molecular and Genetic Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic

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http://dx.doi.org/10.1128/JCM.00135-19	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498017	PMC

May 2019

Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth.

Authors:

Hana Obručová Iva Kotásková Radka Tihelková Veronika Holá Filip Růžička Tomáš Freiberger

J Clin Microbiol 2019 Apr 28;57(4). Epub 2019 Mar 28.

Molecular and Genetic Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic

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http://dx.doi.org/10.1128/JCM.01861-18	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440762	PMC

April 2019

Association between the timing of surgery for complicated, left-sided infective endocarditis and survival.

Authors:

Andrew Wang Vivian H Chu Eugene Athan Francois Delahaye Tomas Freiberger Cristiane Lamas Jose M Miro Jacob Strahilevitz Christophe Tribouilloy Emanuele Durante-Mangoni Juan M Pericas Nuria Fernández-Hidalgo Francisco Nacinovich Bruno Barsic Efthymia Giannitsioti John P Hurley Margaret M Hannan Lawrence P Park

Am Heart J 2019 Apr 17;210:108-116. Epub 2019 Jan 17.

Duke University Medical Center, Durham, NC.

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http://dx.doi.org/10.1016/j.ahj.2019.01.004	DOI Listing

April 2019

The association between vegetation size and surgical treatment on 6-month mortality in left-sided infective endocarditis.

Eur Heart J 2019 Apr 12. Epub 2019 Apr 12.

Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1093/eurheartj/ehz204	DOI Listing

April 2019

The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery.

Authors:

Kristýna Fiedorová Matěj Radvanský Eva Němcová Hana Grombiříková Juraj Bosák Michaela Černochová Matej Lexa David Šmajs Tomáš Freiberger

Front Microbiol 2019 17;10:821. Epub 2019 Apr 17.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.

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http://dx.doi.org/10.3389/fmicb.2019.00821	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479168	PMC

April 2019

SERPING1 exon 3 splicing variants using alternative acceptor splice sites.

Authors:

Tereza Grymová Lucie Grodecká Přemysl Souček Tomáš Freiberger

Mol Immunol 2019 03 24;107:91-96. Epub 2019 Jan 24.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.molimm.2019.01.007	DOI Listing

March 2019

Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples.

Authors:

Iva Kotaskova Hana Obrucova Barbora Malisova Petra Videnska Barbora Zwinsova Tereza Peroutkova Milada Dvorackova Petr Kumstat Pavel Trojan Filip Ruzicka Veronika Hola Tomas Freiberger

Front Microbiol 2019 20;10:462. Epub 2019 Mar 20.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.

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https://www.frontiersin.org/article/10.3389/fmicb.2019.00462	Publisher Site
http://dx.doi.org/10.3389/fmicb.2019.00462	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435596	PMC

March 2019

A summary of the EAS consensus concerning the causal relationship between low-density lipoproteins and atherosclerotic cardiovascular diseases, prepared by the Board of the Czech Society for Atherosclerosis.

Authors:

Vladimír Soška David Karásek Vladimír Bláha Renata Cífková Tomáš Freiberger Pavel Kraml Jan Piťha Hana Rosolová Tomáš Štulc Zuzana Urbanová Michal Vrablík

Vnitr Lek Winter 2019;64(12):1124-1128

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February 2019

A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene.

Authors:

Helena Vaverkova Lukas Tichy David Karasek Tomas Freiberger

J Clin Lipidol 2019 Feb 16. Epub 2019 Feb 16.

Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Central European Institute of Technology and Medical Faculty, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.jacl.2019.02.003	DOI Listing

February 2019

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

Authors:

Veronika Kanderova Hana Grombirikova Irena Zentsova Kamila Reblova Adam Klocperk Martina Fejtkova Marketa Bloomfield Barbora Ravcukova Tomas Kalina Tomas Freiberger Anna Sediva

Haematologica 2019 Jan 18;104(1):e32-e34. Epub 2018 Oct 18.

Department of Immunology, 2 Faculty of Medicine, Charles University and University Hospital Motol, Prague

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http://www.haematologica.org/lookup/doi/10.3324/haematol.201	Publisher Site
http://dx.doi.org/10.3324/haematol.2018.201673	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312013	PMC

January 2019

Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders.

Authors:

Marcela Vlkova Zita Chovancova Jana Nechvatalova Ashley Nicole Connelly Marcus Darrell Davis Peter Slanina Lucie Travnickova Marek Litzman Tereza Grymova Premysl Soucek Tomas Freiberger Jiri Litzman Zdenek Hel

J Immunol 2019 Jan 28;202(1):93-104. Epub 2018 Nov 28.

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35249.

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http://dx.doi.org/10.4049/jimmunol.1800102	DOI Listing

January 2019

Human native endocarditis caused by Streptococcus canis-a case report.

Authors:

Barbora Mališová Petr Šantavý Yvona Lovečková Bořivoj Hladký Iva Kotásková Jiří Pol Vladimír Lonský Petr Němec Tomáš Freiberger

APMIS 2019 Jan;127(1):41-44

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

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http://dx.doi.org/10.1111/apm.12905	DOI Listing

January 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Authors:

Charlotte Schwab Annemarie Gabrysch Peter Olbrich Virginia Patiño Klaus Warnatz Daniel Wolff Akihiro Hoshino Masao Kobayashi Kohsuke Imai Masatoshi Takagi Ingunn Dybedal Jamanda A Haddock David M Sansom Jose M Lucena Maximilian Seidl Annette Schmitt-Graeff Veronika Reiser Florian Emmerich Natalie Frede Alla Bulashevska Ulrich Salzer Desirée Schubert Seiichi Hayakawa Satoshi Okada Maria Kanariou Zeynep Yesim Kucuk Hugo Chapdelaine Lenka Petruzelkova Zdenek Sumnik Anna Sediva Mary Slatter Peter D Arkwright Andrew Cant Hanns-Martin Lorenz Thomas Giese Vassilios Lougaris Alessandro Plebani Christina Price Kathleen E Sullivan Michel Moutschen Jiri Litzman Tomas Freiberger Frank L van de Veerdonk Mike Recher Michael H Albert Fabian Hauck Suranjith Seneviratne Jana Pachlopnik Schmid Antonios Kolios Gary Unglik Christian Klemann Carsten Speckmann Stephan Ehl Alan Leichtner Richard Blumberg Andre Franke Scott Snapper Sebastian Zeissig Charlotte Cunningham-Rundles Lisa Giulino-Roth Olivier Elemento Gregor Dückers Tim Niehues Eva Fronkova Veronika Kanderová Craig D Platt Janet Chou Talal A Chatila Raif Geha Elizabeth McDermott Su Bunn Monika Kurzai Ansgar Schulz Laia Alsina Ferran Casals Angela Deyà-Martinez Sophie Hambleton Hirokazu Kanegane Kjetil Taskén Olaf Neth Bodo Grimbacher

J Allergy Clin Immunol 2018 Dec 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.02.055	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742	PMC

December 2018

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Hum Mutat 2018 11;39(11):1631-1640

FH Foundation, Pasadena, California.

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http://dx.doi.org/10.1002/humu.23634	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206854	PMC

November 2018

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Authors:

Antonio J Vallejo-Vaz Martina De Marco Christophe A T Stevens Asif Akram Tomas Freiberger G Kees Hovingh John J P Kastelein Pedro Mata Frederick J Raal Raul D Santos Handrean Soran Gerald F Watts Marianne Abifadel Carlos A Aguilar-Salinas Mutaz Al-Khnifsawi Fahad A AlKindi Fahad Alnouri Rodrigo Alonso Khalid Al-Rasadi Ahmad Al-Sarraf Tester F Ashavaid Christoph J Binder Martin P Bogsrud Mafalda Bourbon Eric Bruckert Krzysztof Chlebus Pablo Corral Olivier Descamps Ronen Durst Marat Ezhov Zlatko Fras Jacques Genest Urh Groselj Mariko Harada-Shiba Meral Kayikcioglu Katarina Lalic Carolyn S P Lam Gustavs Latkovskis Ulrich Laufs Evangelos Liberopoulos Jie Lin Vincent Maher Nelson Majano A David Marais Winfried März Erkin Mirrakhimov André R Miserez Olena Mitchenko Hapizah M Nawawi Børge G Nordestgaard György Paragh Zaneta Petrulioniene Belma Pojskic Arman Postadzhiyan Ashraf Reda Željko Reiner Wilson E Sadoh Amirhossein Sahebkar Abdullah Shehab Aleksander B Shek Mario Stoll Ta-Chen Su Tavintharan Subramaniam Andrey V Susekov Phivos Symeonides Myra Tilney Brian Tomlinson Thanh-Huong Truong Alexandros D Tselepis Anne Tybjærg-Hansen Alejandra Vázquez-Cárdenas Margus Viigimaa Branislav Vohnout Elisabeth Widén Shizuya Yamashita Maciej Banach Dan Gaita Lixin Jiang Lennart Nilsson Lourdes E Santos Heribert Schunkert Lale Tokgözoğlu Josip Car Alberico L Catapano Kausik K Ray

Atherosclerosis 2018 Oct;277:234-255

Imperial Centre for Cardiovascular Disease Prevention (ICCP), Department of Primary Care and Public Health, School of Public Health, Imperial College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.051	DOI Listing

October 2018

Real-life LDL-C treatment goals achievement in patients with heterozygous familial hypercholesterolemia in the Czech Republic and Slovakia: Results of the PLANET registry.

Authors:

Michal Vrablik Katarina Raslová Branislav Vohnout Vladimir Blaha Martin Satny Ondrej Kyselak Martina Vaclova Robin Urbanek Jana Maskova Vladimir Soska Tomas Freiberger

Atherosclerosis 2018 Oct;277:355-361

Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91 Brno, Czech Republic; Ceitec and Medical Faculty of Masaryk University, Zerotinovo nam. 617/9, 601 77 Brno, Czech Republic. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00219150183125	Publisher Site
http://dx.doi.org/10.1016/j.atherosclerosis.2018.08.008	DOI Listing

October 2018

Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy.

Authors:

Roman Hakl Pavel Kuklínek Irena Krčmová Pavlína Králíčková Tomáš Freiberger Petr Janků Marcela Vlková Jiří Litzman

J Clin Immunol 2018 Oct 2;38(7):810-815. Epub 2018 Oct 2.

Department of Clinical Immunology and Allergology, St. Anne's University Hospital in Brno, Brno, Czech Republic.

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http://dx.doi.org/10.1007/s10875-018-0553-4	DOI Listing

October 2018

Viral genome changes and the impact of viral genome persistence in myocardium of patients with inflammatory cardiomyopathy.

Authors:

Dalibor Mlejnek Jan Krejci Petr Hude Eva Ozabalova Vita Zampachova Radka Stepanova Iva Svobodová Tomas Freiberger Eva Nemcova Lenka Spinarova

Arch Med Sci 2018 Oct 23;14(6):1245-1253. Epub 2018 Oct 23.

Department of Cardiovascular Diseases, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic.

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https://www.termedia.pl/doi/10.5114/aoms.2018.79002	Publisher Site
http://dx.doi.org/10.5114/aoms.2018.79002	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209701	PMC

October 2018

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

J Am Coll Cardiol 2018 Aug;72(6):662-680

The Familial Hypercholesterolemia Foundation, Pasadena, California; Departments of Genetics, Medicine, and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.jacc.2018.05.044	DOI Listing

August 2018

[PCR diagnosis of infectious diseases].

Authors:

Tomáš Freiberger

Vnitr Lek Fall 2017;63(7-8):472-474

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February 2018

Biofilm formation, antibiotic susceptibility and RAPD genotypes in Pseudomonas aeruginosa clinical strains isolated from single centre intensive care unit patients.

Authors:

Martina Vaněrková Barbora Mališová Iva Kotásková Veronika Holá Filip Růžička Tomáš Freiberger

Folia Microbiol (Praha) 2017 Nov 1;62(6):531-538. Epub 2017 Apr 1.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Pekařská 53, 656 91, Brno, Czech Republic.

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http://dx.doi.org/10.1007/s12223-017-0526-7	DOI Listing

November 2017

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology.

Vnitr Lek Winter 2017;63(1):25-30

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September 2017

ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Rationale and Design.

Vnitr Lek Winter 2017;63(1):43-48

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September 2017

First report of Sneathia sanguinegens together with Mycoplasma hominis in postpartum prosthetic valve infective endocarditis: a case report.

Authors:

Iva Kotaskova Petr Nemec Martina Vanerkova Barbora Malisova Renata Tejkalova Marek Orban Vita Zampachova Tomas Freiberger

BMC Infect Dis 2017 08 14;17(1):563. Epub 2017 Aug 14.

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

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http://dx.doi.org/10.1186/s12879-017-2654-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557263	PMC

August 2017

Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

Authors:

Lucie Grodecká Pavla Hujová Michal Kramárek Tereza Kršjaková Tatiana Kováčová Katarína Vondrášková Barbora Ravčuková Kristýna Hrnčířová Přemysl Souček Tomáš Freiberger

Clin Immunol 2017 07 27;180:33-44. Epub 2017 Mar 27.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Institute of Clinical Immunology and Allergology, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2017.03.010	DOI Listing

July 2017

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Authors:

Lucie Grodecká Emanuele Buratti Tomáš Freiberger

Int J Mol Sci 2017 Jul 31;18(8). Epub 2017 Jul 31.

Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.

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http://dx.doi.org/10.3390/ijms18081668	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578058	PMC

July 2017

[Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].

Authors:

Richard Češka Tomáš Štulc Lucie Votavová Lucie Schwarzová Martina Vaclová Tomáš Freiberger

Vnitr Lek Fall 2016;62(11):887-894

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June 2017

[Severe familial hypercholesterolemia treatment].

Authors:

Michal Vrablík Tomáš Freiberger Vladimír Bláha Richard Češka

Vnitr Lek Fall 2016;62(11):895-901

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June 2017

[Familial hypercholesterolemia in the Czech Republic in 2016].

Authors:

Tomáš Freiberger Martina Vaclová Lukáš Tichý Vladimír Soška Vladimír Bláha Lenka Fajkusová Richard Češka Michal Vrablík

Vnitr Lek Fall 2016;62(11):924-928

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June 2017

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Authors:

L Grodecká T Kováčová M Kramárek S Seneca K Stouffs C De Laet F Majer T Kršjaková P Hujová K Hrnčířová P Souček W Lissens E Buratti Tomas Freiberger

J Mol Med (Berl) 2017 03 12;95(3):299-309. Epub 2016 Nov 12.

Central European Institute of Technology, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1007/s00109-016-1484-2	DOI Listing

March 2017

Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.

Authors:

Antonio J Vallejo-Vaz Asif Akram Sreenivasa Rao Kondapally Seshasai Della Cole Gerald F Watts G Kees Hovingh John J P Kastelein Pedro Mata Frederick J Raal Raul D Santos Handrean Soran Tomas Freiberger Marianne Abifadel Carlos A Aguilar-Salinas Fahad Alnouri Rodrigo Alonso Khalid Al-Rasadi Maciej Banach Martin P Bogsrud Mafalda Bourbon Eric Bruckert Josip Car Richard Ceska Pablo Corral Olivier Descamps Hans Dieplinger Can T Do Ronen Durst Marat V Ezhov Zlatko Fras Dan Gaita Isabel M Gaspar Jaques Genest Mariko Harada-Shiba Lixin Jiang Meral Kayikcioglu Carolyn S P Lam Gustavs Latkovskis Ulrich Laufs Evangelos Liberopoulos Jie Lin Nan Lin Vincent Maher Nelson Majano A David Marais Winfried März Erkin Mirrakhimov André R Miserez Olena Mitchenko Hapizah Nawawi Lennart Nilsson Børge G Nordestgaard György Paragh Zaneta Petrulioniene Belma Pojskic Željko Reiner Amirhossein Sahebkar Lourdes E Santos Heribert Schunkert Abdullah Shehab M Naceur Slimane Mario Stoll Ta-Chen Su Andrey Susekov Myra Tilney Brian Tomlinson Alexandros D Tselepis Branislav Vohnout Elisabeth Widén Shizuya Yamashita Alberico L Catapano Kausik K Ray

Atheroscler Suppl 2016 Dec 7;22:1-32. Epub 2016 Dec 7.

Imperial Centre for Cardiovascular Disease Prevention (ICCP), School of Public Health, Imperial College London, London, UK.

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http://dx.doi.org/10.1016/j.atherosclerosissup.2016.10.001	DOI Listing

December 2016

Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.

Authors:

Paola G Bronson Diana Chang Tushar Bhangale Michael F Seldin Ward Ortmann Ricardo C Ferreira Elena Urcelay Luis Fernández Pereira Javier Martin Alessandro Plebani Vassilios Lougaris Vanda Friman Tomáš Freiberger Jiri Litzman Vojtech Thon Qiang Pan-Hammarström Lennart Hammarström Robert R Graham Timothy W Behrens

Nat Genet 2016 11 10;48(11):1425-1429. Epub 2016 Oct 10.

Department of Human Genetics, Genentech, Inc., South San Francisco, California, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5086090	PMC
http://dx.doi.org/10.1038/ng.3675	DOI Listing

November 2016

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.

Lancet Diabetes Endocrinol 2016 10 27;4(10):850-61. Epub 2016 May 27.

Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

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http://dx.doi.org/10.1016/S2213-8587(16)30041-9	DOI Listing

October 2016

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.

Authors:

Rabab El Hawary Safa Meshaal Caroline Deswarte Nermeen Galal Mahitab Abdelkawy Radwa Alkady Dalia Abd Elaziz Tomas Freiberger Barbora Ravcukova Jiri Litzman Jacinta Bustamante Jeannette Boutros Taghrid Gaafar Aisha Elmarsafy

J Clin Immunol 2016 08 24;36(6):610-8. Epub 2016 May 24.

Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.1007/s10875-016-0297-y	DOI Listing

August 2016

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Authors:

Jana Pavloušková Kamila Réblová Lukáš Tichý Tomáš Freiberger Lenka Fajkusová

Atherosclerosis 2016 07 27;250:9-14. Epub 2016 Apr 27.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Masaryk University, Brno, Czech Republic; CEITEC - Central European Institute of Technology, Masaryk University, Brno, Czech Republic. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2016.04.022	DOI Listing

July 2016

Evaluation of Fluorescent Capillary Electrophoresis for Rapid Identification of Candida Fungal Infections.

Authors:

Hana Obručová Radka Tihelková Iva Kotásková Filip Růžička Veronika Holá Eva Němcová Tomáš Freiberger

J Clin Microbiol 2016 05 2;54(5):1295-303. Epub 2016 Mar 2.

Centre for Cardiovascular Surgery and Transplantation Brno, Genetics Laboratory, Brno, Czech Republic Molecular Immunology and Microbiology, Central European Institute of Technology, Masaryk University Brno, Brno, Czech Republic

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http://dx.doi.org/10.1128/JCM.00118-16	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844707	PMC

May 2016

[PCSK9 inhibitors - new possibilities in the treatment of hypercholesterolemia: For which patients will be indicated?Czech atherosclerosis society statement].

Authors:

Vladimír Soška Michal Vrablík Vladimír Bláha Renata Cífková Richard Češka Tomáš Freiberger Pavel Kraml Jan Piťha Hana Rosolová Tomáš Štulc Helena Vaverková Zuzana Urbanová

Vnitr Lek 2016 Apr;62(4):329-33

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April 2016

Correlations of the changes in bioptic findings with echocardiographic, clinical and laboratory parameters in patients with inflammatory cardiomyopathy.

Authors:

Jan Krejci Petr Hude Hana Poloczkova Vita Zampachova Radka Stepanova Tomas Freiberger Eva Nemcova Lenka Spinarova

Heart Vessels 2016 Mar 25;31(3):416-26. Epub 2014 Dec 25.

Department of Cardiovascular Diseases, St. Anne's University Hospital, International Clinical Research Center, Pekarska 53, 65690, Brno, Czech Republic.

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http://dx.doi.org/10.1007/s00380-014-0618-0	DOI Listing

March 2016

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

Authors:

Eva Froňková Adam Klocperk Michael Svatoň Michaela Nováková Michaela Kotrová Jana Kayserová Tomáš Kalina Petra Keslová Felix Votava Hana Vinohradská Tomáš Freiberger Ester Mejstříková Jan Trka Anna Sedivá

PLoS One 2014 8;9(12):e114514. Epub 2014 Dec 8.

Department of Immunology, 2nd Medical School, Charles University Prague and University Hospital Motol, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0114514	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259354	PMC

January 2016

Rapid identification of medically important Candida isolates using high resolution melting analysis.

Authors:

Eva Nemcova Michaela Cernochova Filip Ruzicka Barbora Malisova Tomas Freiberger Petr Nemec

PLoS One 2015 17;10(2):e0116940. Epub 2015 Feb 17.

Centre for Cardiovascular Surgery and Transplantation Brno, Brno, Czech Republic; International Clinical Research Centre, St. Anne's University Hospital Brno, Brno, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116940	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331273	PMC

January 2016

Familial hypercholesterolaemia: A global call to arms.

Atherosclerosis 2015 Nov 18;243(1):257-9. Epub 2015 Sep 18.

School of Public Health, Imperial College London, London, UK. Electronic address:

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http://www.athero.cz/zpravodaj/012-2015-10/AtheroclsFINALsup	Web Search
http://linkinghub.elsevier.com/retrieve/pii/S002191501530130	Publisher Site
http://dx.doi.org/10.1016/j.atherosclerosis.2015.09.021	DOI Listing

November 2015

[Early diagnosis of familial hypercholesterolemia in Czech Republic in pursuance of MedPed Project].

Authors:

Tomáš Freiberger Michal Vrablík

Vnitr Lek 2015 Nov;61(11):942-5

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November 2015

Response to Letter Regarding Article, "Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis: A Prospective Study From the International Collaboration on Endocarditis".

Circulation 2015 Oct;132(14):e184-5

Duke University Medical Center, Durham, NC.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.016782	DOI Listing

October 2015

The variable clinical course of peripartum cardiomyopathy.

Authors:

Jan Krejci Petr Hude Lenka Spinarova Vita Zampachova Alzbeta Sirotkova Tomas Freiberger Eva Nemcova Jiri Vitovec

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 31;158(1):92-7. Epub 2012 Oct 31.

International Clinical Research Center - 1st Internal Cardio-Angiological Clinic, St. Anne's University Hospital Brno, Czech Republic.

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http://dx.doi.org/10.5507/bp.2012.080	DOI Listing

April 2015

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

Authors:

Tamara Svobodova Ester Mejstrikova Ulrich Salzer Martina Sukova Petr Hubacek Radoslav Matej Martina Vasakova Ludmila Hornofova Marcela Dvorakova Eva Fronkova Felix Votava Tomas Freiberger Petr Pohunek Jan Stary Ales Janda

BMC Pulm Med 2015 Feb 10;15. Epub 2015 Feb 10.

Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, Freiburg im Breisgau, Germany.

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http://bmcpulmmed.biomedcentral.com/articles/10.1186/s12890-	Publisher Site
http://dx.doi.org/10.1186/s12890-015-0006-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340788	PMC

February 2015

Association between surgical indications, operative risk, and clinical outcome in infective endocarditis: a prospective study from the International Collaboration on Endocarditis.

Circulation 2015 Jan 5;131(2):131-40. Epub 2014 Dec 5.

From Duke University Medical Center, Durham, NC (V.H.C., L.P.P., A.W.); Barwon Health and Deakin University, Geelong, Australia (E.A.); Hospital Louis Pradel, Lyon-Bron, France (F.D.); Center for Cardiovascular Surgery and Transplantation, Brno, and Central European Institute of Technology, Masaryk University, Brno, Czech Republic (T.F.); Instituto Nacional de Cardiologia, and Unigranrio, Rio de Janeiro, Brazil (C.L.); Infectious Diseases Service, Hospital Clinic-August Pi i Sunyer Biomedical Research Institute, University of Barcelona, Barcelona, Spain (J.M.M., J.M.P.); OhioHealth Heart and Vascular Physicians, Columbus, OH (D.W.M.); Hadassah-Hebrew University Medical Center, Jerusalem, Israel (J.S.); University Hospital, Amiens, and INSERM U-1088, University of Picardie, Amiens, France (C.T.); Internal Medicine, University of Naples SUN, Monaldi Hospital, Naples, Italy (E.D.-M.); Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain (N.F.-H.); Instituto Cardiovascular de Buenos Aires, Buenos Aires, Argentina (F.N.); Cairo University Hospital, Cairo, Egypt (H.R.); University Hospital for Infectious Diseases, Zagreb, Croatia (V.K.); Attikon University General Hospital, Athens, Greece (E.G.); and Mater Misericordiae University Hospital, Dublin, Ireland (J.P.H., M.M.H.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.012461	DOI Listing

January 2015

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Authors:

Lucie Grodecká Pavla Lockerová Barbora Ravčuková Emanuele Buratti Francisco E Baralle Ladislav Dušek Tomáš Freiberger

PLoS One 2014 21;9(2):e89570. Epub 2014 Feb 21.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic ; Institute of Clinical Immunology and Allergology, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089570	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931810	PMC

October 2014

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

Authors:

Zuzana Havlicekova Milos Jesenak Tomas Freiberger Peter Banovcin

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 Sep 22;158(3):470-3. Epub 2013 Mar 22.

Department of Paediatrics, Centre for diagnosis and treatment of primary immunodeficiencies, Jessenius Faculty of Medicine, Commenius University in Bratislava, Martin, Slovakia.

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http://dx.doi.org/10.5507/bp.2013.011	DOI Listing

September 2014

Association between low levels of Mannan-binding lectin and markers of autoimmune thyroid disease in pregnancy.

Authors:

Eliska Potlukova Tomas Freiberger Zdenka Limanova Jan Jiskra Zdenek Telicka Jana Bartakova Drahomira Springer Hana Vitkova Marten Trendelenburg

PLoS One 2013 10;8(12):e81755. Epub 2013 Dec 10.

Third Department of Medicine, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081755	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858249	PMC

September 2014

No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay.

Authors:

Lucie Grodecká Michal Kramárek Pavla Lockerová Tatiana Kováčová Barbora Ravčuková Radmila Richterová Kateřina Kyselová Eva Augste Tomáš Freiberger

Genes Chromosomes Cancer 2014 Sep 12;53(9):798-801. Epub 2014 May 12.

Department of Molecular Immunology and Microbiology, Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

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http://doi.wiley.com/10.1002/gcc.22186	Publisher Site
http://dx.doi.org/10.1002/gcc.22186	DOI Listing

September 2014

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.

Authors:

Antonín Sípek Lucie Grodecká Alice Baxová Petra Cibulková Magdaléna Dvořáková Stella Mazurová Martin Magner Jiří Zeman Tomáš Honzík Tomáš Freiberger

Am J Med Genet A 2014 Jun 25;164A(6):1559-64. Epub 2014 Mar 25.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1002/ajmg.a.36480	DOI Listing

June 2014

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

Authors:

Alexis-Virgil Cochino Ales Janda Barbora Ravcukova Vasilica Plaiasu Diana Ochiana Ioan Gherghina Tomas Freiberger

J Clin Immunol 2014 Feb 30;34(2):142-5. Epub 2014 Jan 30.

Paediatrics Department, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania,

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http://link.springer.com/content/pdf/10.1007/s10875-013-9986	Web Search
http://link.springer.com/10.1007/s10875-013-9986-y	Publisher Site
http://dx.doi.org/10.1007/s10875-013-9986-y	DOI Listing

February 2014

Cardio-ankle vascular index in subjects with dyslipidaemia and other cardiovascular risk factors.

Authors:

Vladimir Soska Michaela Frantisova Petr Dobsak Ladislav Dusek Jiri Jarkovsky Marie Novakova Kohji Shirai Lenka Fajkusova Tomas Freiberger

J Atheroscler Thromb 2013 4;20(5):443-51. Epub 2013 Mar 4.

2nd Clinic of Internal Medicine, Masaryk University of Brno, Czech Republic.

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http://dx.doi.org/10.5551/jat.15420	DOI Listing

December 2013

Cardio-ankle vascular index in heterozygous familial hypercholesterolemia.

Authors:

Vladimir Soska Petr Dobsak Ladislav Dusek Kohji Shirai Jiri Jarkovsky Marie Novakova Petr Brhel Jana Stastna Lenka Fajkusova Tomas Freiberger Tomoyuki Yambe

J Atheroscler Thromb 2012 12;19(5):453-61. Epub 2012 Jan 12.

2nd Clinic of Internal Medicine, Masaryk University of Brno, Czech Republic.

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http://dx.doi.org/10.5551/jat.9639	DOI Listing

September 2012

Remote ischaemic preconditioning in coronary artery bypass surgery: a meta-analysis.

Authors:

Fabrizio D'Ascenzo Erika Cavallero Claudio Moretti Pierluigi Omedè Filippo Sciuto Ishtiaq A Rahman Robert S Bonser Jeon Yunseok Robert Wagner Tomas Freiberger Gudrun Kunst Michael S Marber Matthias Thielmann Bingyang Ji Yasser M Amr Maria Grazia Modena Giuseppe Biondi Zoccai Imad Sheiban Fiorenzo Gaita

Heart 2012 Sep;98(17):1267-71

Division of Cardiology, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1136/heartjnl-2011-301551	DOI Listing

September 2012

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Authors:

Lukáš Tichý Tomáš Freiberger Petra Zapletalová Vladimír Soška Barbora Ravčuková Lenka Fajkusová

Atherosclerosis 2012 Aug 23;223(2):401-8. Epub 2012 May 23.

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

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014	DOI Listing

August 2012

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.

Authors:

Ester Mejstríková Ales Janda Ondrej Hrusák Hana Bucková Markéta Vlcková Miroslava Hancárová Tomás Freiberger Barbora Ravcuková Karel Vesely Lenka Fajkusová Lenka Kopecková David Sumerauer Edita Kabícková Anna Sedivá Jan Stary Zdenek Sedlácek

Pediatrics 2012 Feb 23;129(2):e523-8. Epub 2012 Jan 23.

Department of Pediatric Hematology and Oncology, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1542/peds.2011-0870	DOI Listing

February 2012

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.

Authors:

Vladimír Soška Jiří Jarkovský Barbora Ravčuková Lukáš Tichý Lenka Fajkusová Tomáš Freiberger

Clin Biochem 2012 Jan 18;45(1-2):96-100. Epub 2011 Nov 18.

Department of Biochemistry, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.clinbiochem.2011.11.001	DOI Listing

January 2012

Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.

Authors:

Vladimír Soska Tomas Freiberger Renata Cifkova Vera Lanska Michal Vrablik Lenka Fajkusova Richard Ceska

Clin Chim Acta 2011 May 21;412(11-12):920-4. Epub 2011 Jan 21.

Department of Clinical Biochemistry, St. Anne's University Hospital and 2nd Clinic of Internal Medicine, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.cca.2011.01.017	DOI Listing

May 2011

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Authors:

Lucie Dušková Lenka Kopečková Eva Jansová Lukáš Tichý Tomáš Freiberger Petra Zapletalová Vladimír Soška Barbora Ravčuková Lenka Fajkusová

Atherosclerosis 2011 May 21;216(1):139-45. Epub 2011 Jan 21.

University Hospital Brno, Centre of Molecular Biology and Gene Therapy, Černopolní 9, CZ-62500 Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.atherosclerosis.2011.01.023	DOI Listing

May 2011

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Mol Immunol 2011 Feb 24;48(5):788-92. Epub 2010 Dec 24.

Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Nagyerdei krt. 98, 4032 Debrecen, Hungary.

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http://dx.doi.org/10.1016/j.molimm.2010.11.013	DOI Listing

February 2011

Myocardial injury is decreased by late remote ischaemic preconditioning and aggravated by tramadol in patients undergoing cardiac surgery: a randomised controlled trial.

Authors:

Robert Wagner Pavel Piler Helena Bedanova Petr Adamek Lucie Grodecka Tomas Freiberger

Interact Cardiovasc Thorac Surg 2010 Dec 16;11(6):758-62. Epub 2010 Sep 16.

Department of Cardiac Anaesthesia, Centre for Cardiovascular and Transplant Surgery (CKTCH), St. Anne's University Hospital, Brno, Czech Republic.

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http://dx.doi.org/10.1510/icvts.2010.243600	DOI Listing

December 2010

Differentiation of Staphylococcus spp. by high-resolution melting analysis.

Authors:

Michal Slany Martina Vanerkova Eva Nemcova Barbora Zaloudikova Filip Ruzicka Tomas Freiberger

Can J Microbiol 2010 Dec;56(12):1040-9

Centre for Cardiovascular Surgery and Transplantations, Pekarska 53, 656 91 Brno, Czech Republic.

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http://dx.doi.org/10.1139/W10-091	DOI Listing

December 2010

Monitoring of CD38high expression in peripheral blood CD8+ lymphocytes in patients after kidney transplantation as a marker of cytomegalovirus infection.

Authors:

Olga Ticha Martina Stouracova Milan Kuman Pavel Studenik Tomas Freiberger Jiri Litzman

Transpl Immunol 2010 Oct 14;24(1):50-6. Epub 2010 Oct 14.

Department of Clinical Immunology and Allergology, St. Anne's Faculty Hospital, Masaryk University, Brno, Czech Republic.

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http://dx.doi.org/10.1016/j.trim.2010.10.002	DOI Listing

October 2010

Diffuse large B-cell lymphoma in a patient with hyper-IgE syndrome: Successful treatment with risk-adapted rituximab-based immunochemotherapy.

Authors:

David Belada Lukás Smolej Pavla Stepánková Pavlína Králícková Tomás Freiberger

Leuk Res 2010 Sep 11;34(9):e232-4. Epub 2010 Mar 11.

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http://dx.doi.org/10.1016/j.leukres.2010.01.024	DOI Listing

September 2010

The production of mannan-binding lectin is dependent upon thyroid hormones regardless of the genotype: a cohort study of 95 patients with autoimmune thyroid disorders.

Authors:

Eliska Potlukova Jan Jiskra Tomas Freiberger Zdenka Limanova Dana Zivorova Karin Malickova Drahomira Springer Lucie Grodecka Marie Antosova Zdenek Telicka Satu Sinikka Pesickova Marten Trendelenburg

Clin Immunol 2010 Jul 30;136(1):123-9. Epub 2010 Mar 30.

Third Department of Medicine, General University Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.clim.2010.02.015	DOI Listing

July 2010

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Authors:

Radan Goldmann Lukás Tichý Tomás Freiberger Petra Zapletalová Ondrej Letocha Vladimír Soska Jirí Fajkus Lenka Fajkusová

BMC Med Genet 2010 Jul 27;11:115. Epub 2010 Jul 27.

University Hospital Brno, Centre of Molecular Biology and Gene Therapy, Cernopolní 9, CZ-62500 Brno, Czech Republic.

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http://dx.doi.org/10.1186/1471-2350-11-115	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923121	PMC

July 2010

Molecular detection and identification of zygomycetes species from paraffin-embedded tissues in a murine model of disseminated zygomycosis: a collaborative European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Fungal Infection Study Group (EFISG) evaluation.

Authors:

Eric Dannaoui Patrick Schwarz Michal Slany Juergen Loeffler Anne Tomine Jorde Manuel Cuenca-Estrella Philippe M Hauser Raghdaa Shrief Michel Huerre Tomas Freiberger Peter Gaustad Juan-Luis Rodriguez-Tudela Jacques Bille David W Denning Stéphane Bretagne Olivier Lortholary

J Clin Microbiol 2010 Jun 7;48(6):2043-6. Epub 2010 Apr 7.

Institut Pasteur, Unité de Mycologie Moléculaire, 25, Rue du Dr. Roux, Paris 75724 Cedex 15, France.

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http://jcm.asm.org/content/48/6/2043.full.pdf	Web Search
http://jcm.asm.org/content/early/2010/04/07/JCM.02319-09.ful	Web Search
http://jcm.asm.org/cgi/doi/10.1128/JCM.02319-09	Publisher Site
http://dx.doi.org/10.1128/JCM.02319-09	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884487	PMC