prof. MUDr. Tomáš Freiberger, Ph.D.

2021

• Patients With Common Variable Immunodeficiency (CVID) Show Higher Gut Bacterial Diversity and Levels of Low-Abundance Genes Than the Healthy Housemates

  BOSÁK Juraj LEXA Matej FIEDOROVÁ Kristýna GADARA Darshak Chandulal MICENKOVÁ Lenka SPÁČIL Zdeněk LITZMAN Jiří FREIBERGER Tomáš ŠMAJS David

  Article in Periodical

  Frontiers in Immunology, year: 2021, volume: 12, edition: May 2021, DOI

• Prospective Cohort Study of Infective Endocarditis in People Who Inject Drugs

  PERICAS J. M. LLOPIS J. ATHAN E. HERNANDEZ-MENESES M. HANNAN M. M. MURDOCH D. R. KANAFANI Z. FREIBERGER Tomáš STRAHILEVITZ J. FERNANDEZ-HIDALGO N. LAMAS C. DURANTE-MANGONI E. TATTEVIN P. NACINOVICH F. CHU V. H. MIRO J. M.

  Article in Periodical

  Journal of the American College of Cardiology, year: 2021, volume: 77, edition: 5, DOI

• Překvapivá diagnóza MUCKLE-WELLSOVA syndromu v důsledku defektu genu NLRP3

  HANZLÍKOVÁ Jana BÍLY Viktor GROMBIŘÍKOVÁ Hana FREIBERGER Tomáš

  Conference abstract

  Year: 2021, type: Conference abstract

• Vasculopathy and polyneuropathy associated with a novel mutation in TREX1

  GROMBIŘÍKOVÁ Hana SCHÜLLER Marcel FRÁŇOVÁ Jana MACKŮ Marie RAVČUKOVÁ Barbora BÍLY Viktor FREIBERGER Tomáš

  Conference abstract

  Year: 2021, type: Conference abstract

2020

• Clinical and genetic evaluation of PFAPA and hereditary recurrent fevers

  GROMBIŘÍKOVÁ Hana BÍLY Viktor RAVČUKOVÁ Barbora ŠEDIVÁ Anna HLAVÁČKOVÁ Eva PANCZAK Aleš DOLEŽEL Zdeněk FREIBERGER Tomáš

  Conference abstract

  Year: 2020, type: Conference abstract

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

  RAMASWAMI U. FUTEMA M. BOGSRUD M. P. HOLVEN K. B. VAN LENNEP J. R. WIEGMAN A. DESCAMPS O. S. VRABLIK M. FREIBERGER Tomáš DIEPLINGER H. GREBER-PLATZER S. HANAUER-MADER G. BOURBON M. DROGARI E. HUMPHRIES S. E.

  Article in Periodical

  Atherosclerosis, year: 2020, volume: 292, edition: JAN 2020, DOI

• 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

  POLÁŠKOVÁ Kristýna MERTA Tomáš MARTINČEKOVÁ Alexandra ZAPLETALOVÁ Danica KÝR Michal MAZÁNEK Pavel KŘENOVÁ Zdenka MÚDRY Peter JEŽOVÁ Marta TŮMA Jiří SKOTÁKOVÁ Jarmila ČERVINKOVÁ Ivana VALÍK Dalibor ZDRAŽILOVÁ DUBSKÁ Lenka NOSKOVÁ Hana PÁL Karol SLABÝ Ondřej FABIAN Pavel KOZÁKOVÁ Šárka NERADIL Jakub VESELSKÁ Renata KANDEROVÁ Veronika ŠTARHA Jiří FREIBERGER Tomáš KLEMENT Giannoula Lakka ŠTĚRBA Jaroslav

  Article in Periodical

  Frontiers in Oncology, year: 2020, volume: 9, edition: FEB 2020, DOI

• Cytogenetické a molekulárně genetické nálezy u pacientky s ICF2 syndromem - kazuistika

  NAVAŘÍKOVÁ Marta ŠOUKALOVÁ Jana GROMESOVÁ GROMBIŘÍKOVÁ Hana FILKOVÁ Hana HLADÍLKOVÁ Eva WAYHELOVÁ Markéta KRÁLOVÁ Monika KRMELOVÁ P. KLUKOVÁ Hana FREIBERGER Tomáš SCHNEIDEROVÁ Helena KUGLÍK Petr

  Conference abstract

  Year: 2020, type: Conference abstract

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

  GURKA Jiri PIHEROVA Lenka MAJER Filip CHALOUPKA Anna ŽÁKOVÁ Daniela PELAK Ondrej KREBSOVA Alice PEICHL Petr KREJČÍ Jan FREIBERGER Tomáš MELENOVSKY Vojtech KAUTZNER Josef KALINA Tomas SIKORA Jakub KUBANEK Milos

  Article in Periodical

  ESC Heart Failure, year: 2020, volume: 7, edition: 5, DOI

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

  HUJOVÁ Pavla SOUČEK Přemysl GRODECKÁ Lucie GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman LITZMAN Jiří FREIBERGER Tomáš

  Article in Periodical

  Journal of Clinical Immunology, year: 2020, volume: 40, edition: 3, DOI