prof. MUDr. Tomáš Freiberger, Ph.D.

2021

• Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries

  FUTEMA M. RAMASWAMI U. TICHY Lukas BOGSRUD M. P. HOLVEN K. B. VAN LENNEP J. R. WIEGMAN A. DESCAMPS OS DE LEENER A. FASTRE E. VRABLIK Michal FREIBERGER Tomáš ESTERBAUER H. DIEPLINGER H. GREBER-PLATZER S. MEDEIROS A. M. BOURBON M. MOLLAKI V. DROGARI E. HUMPHRIES S. E.

  Article in Periodical

  Atherosclerosis, year: 2021, volume: 319, edition: FEB 2021, DOI

• Genetika familiární hypercholesterolemie: aktualizovaná kritéria pro interpretaci variant v genu LDLR

  TICHÝ Lukáš KONEČNÁ Kateřina FREIBERGER Tomáš

  Article in Periodical

  Athero Review, year: 2021, volume: 6, edition: 3

• Global guideline for the diagnosis and management of rare mould infections: an initiative of the European Confederation of Medical Mycology in cooperation with the International Society for Human and Animal Mycology and the American Society for Microbiology

  HOENIGL M. SALMANTON-GARCIA J. WALSH T. J. NUCCI M. NEOH C. F. JENKS J. D. LACKNER M. SPRUTE R. AL-HATMI A. M. S. BASSETTI M. CARLESSE F. FREIBERGER Tomáš KOEHLER P. LEHRNBECHER T. KUMAR A. PRATTES J. RICHARDSON M. REVANKAR S. SLAVIN M. A. STEMLER J. SPIESS B. TAJ-ALDEEN S. J. WARRIS A. WOO P. C. Y. YOUNG J. A. H. ALBUS K. ARENZ D. ARSIC-ARSENIJEVIC V. BOUCHARA J. P. CHINNIAH T. R. CHOWDHARY A. DE HOOG G. S. DIMOPOULOS G. DUARTE R. F. HAMAL P. MEIS J. F. MFINANGA S. QUEIROZ-TELLES F. PATTERSON T. F. RAHAV G. ROGERS T. R. ROTSTEIN C. WAHYUNINGSIH R. SEIDEL D. CORNELY O. A.

  Article in Periodical

  Lancet Infectious Diseases, year: 2021, volume: 21, edition: 8, DOI

• Global guideline for the diagnosis and management of rare yeast infections: an initiative of the ECMM in cooperation with ISHAM and ASM

  CHEN S. C. A. PERFECT J. COLOMBO A. L. CORNELY O. A. GROLL A. H. SEIDEL D. ALBUS K. DE ALMEDIA J. N. GARCIA-EFFRON G. GILROY N. LASS-FLORL C. OSTROSKY-ZEICHNER L. PAGANO L. PAPP T. RAUTEMAA-RICHARDSON R. SALMANTON-GARCIA J. SPEC A. STEINMANN J. ARIKAN-AKDAGLI S. ARENZ D. E. SPRUTE R. DURAN-GRAEFF L. FREIBERGER Tomáš GIRMENIA C. HARRIS M. KANJ S. S. ROUDBARY M. LORTHOLARY O. MELETIADIS J. SEGAL E. TUON F. F. WIEDERHOLD N. BICANIC T. CHANDER J. CHEN Y. C. HSUEH P. R. IP M. MUNOZ P. SPRIET I. TEMFACK E. THOMPSON L. TORTORANO A. M. VELEGRAKI A. GOVENDER N. P.

  Article in Periodical

  Lancet Infectious Diseases, year: 2021, volume: 21, edition: 12, DOI

• Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

  VALLEJO-VAZ Antonio J. STEVENS Christophe A. T. LYONS Alexander R. M. DHARMAYAT Kanika I. FREIBERGER Tomáš HOVINGH G Kees MATA Pedro RAAL Frederick J. SANTOS Raul D. SORAN Handrean WATTS Gerald F. ABIFADEL Marianne AGUILAR-SALINAS Carlos A. ALHABIB Khalid F. ALKHNIFSAWI Mutaz ALMAHMEED Wael ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid AL-SARRAF Ahmad AL-SAYED Nasreen ARAUJO Francisco ASHAVAID Tester F. BANACH Maciej BÉLIARD Sophie BENN Marianne BINDER Christoph J. BOGSRUD Martin P. BOURBON Mafalda CHLEBUS Krzysztof CORRAL Pablo DAVLETOV Kairat DESCAMPS Olivier S. DURST Ronen EZHOV Marat GAITA Dan GENEST Jacques GROSELJ Urh HARADA-SHIBA Mariko HOLVEN Kirsten B KAYIKCIOGLU Meral KHOVIDHUNKIT Weerapan LALIC Katarina LATKOVSKIS Gustavs LAUFS Ulrich LIBEROPOULOS Evangelos LIMA-MARTINEZ Marcos M. LIN Jie MAHER Vincent MARAIS David MÄRZ Winfried MIRRAKHIMOV Erkin MISEREZ André R. MITCHENKO Olena NAWAWI Hapizah NORDESTGAARD Borge G. PANAYIOTOU Andrie G. PARAGH György PETRULIONIENE Zaneta POJSKIC Belma POSTADZHIYAN Arman RASLOVA Katarina REDA Ashraf REINER Željko SADIQ Fouzia SADOH Wilson Ehidiamen SCHUNKERT Heribert SHEK Aleksandr B. STOLL Mario STROES Erik SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey V. TILNEY Myra TOMLINSON Brian TRUONG Thanh Huong TSELEPIS Alexandros D. TYBJARG-HANSEN Anne CÁRDENAS Alejandra Vázquez VIIGIMAA Margus WANG Luya YAMASHITA Shizuya TOKGOZOGLU Lale CATAPANO Alberico L. RAY Kausik K.

  Article in Periodical

  Lancet, year: 2021, volume: 398, edition: 10312, DOI

• Klinický a imunologický fenotyp pacientov s novo-identifikovanými mutáciami v génoch NFkB.

  ČIŽNÁR Peter FREIBERGER Tomáš ŠVEC P HULÍNKOVÁ I GROMBIŘÍKOVÁ Hana ŠOLTÝSOVÁ B

  Conference abstract

  Year: 2021, type: Conference abstract

• Monogenic autoimmune vasculopathy and polyneuropathy.

  GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora BÍLY Viktor FREIBERGER Tomáš

  Appeared in Conference without Proceedings

  Year: 2021, type: Appeared in Conference without Proceedings

• Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites

  HUJOVÁ Pavla SOUČEK Přemysl RADOVÁ Lenka KRAMAREK Michal KOVÁČOVÁ Tatiana FREIBERGER Tomáš

  Article in Periodical

  Cellular and molecular life sciences, year: 2021, volume: 78, edition: 21-22, DOI

• Oligogenic inheritance in a very early onset IBD: causal or random association?

  BÍLY Viktor GROMBIŘÍKOVÁ Hana SOUČEK Přemysl KRAMÁREK Michal FREIBERGER Tomáš

  Appeared in Conference without Proceedings

  Year: 2021, type: Appeared in Conference without Proceedings

• 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