prof. MUDr. Tomáš Freiberger, Ph.D.

2022

• Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations

  GIDDING Samuel S. WIEGMAN Albert GROSELJ Urh FREIBERGER Tomáš PERETTI Noel DHARMAYAT Kanika I DACCORD Magdalena BEDLINGTON Nicola SIKONJA Jaka RAY Kausik K SANTOS Raul D HALLE Martin TOKGOZOGLU Lale GUTIERREZ-IBARLUZEA Inaki PINTO Fausto J GEANTA Marius

  Article in Periodical

  EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, year: 2022, volume: 29, edition: 18, DOI

• SERPING1 Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE

  DROUET Christian LÓPEZ-LERA Alberto GHANNAM Arije LÓPEZ-TRASCASA Margarita CICHON Sven PONARD Denise PARSOPOULOU Faidra GROMBIŘÍKOVÁ Hana FREIBERGER Tomáš RIJAVEC Matija VERONEZ Camila L PESQUERO Joao Bosco GERMENIS Anastasios E

  Article in Periodical

  Frontiers in allergy, year: 2022, volume: 3, edition: March 2022, DOI

• Stanovisko ČSAT ke Konsenzu EAS 2021: Lipoproteiny bohaté na triglyceridy a jejich remnantní částice – přehled metabolizmu, role při aterosklerotickém kardiovaskulárním onemocnění a nové terapeutické strategie

  VRABLÍK Michal BLAHA Vladimír CÍFKOVÁ Renata FREIBERGER Tomáš KARÁSEK David KRAML Pavel PIŤHA Jan ROSOLOVÁ Hana SOŠKA Vladimír ŠTULC Tomáš URBANOVÁ Zuzana MAŠKOVÁ Jana

  Year: 2022

• The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

  CHORA J. R. IACOCCA M. A. TICHÝ Lukas WAND H. KURTZ C. L. ZIMMERMANN H. LEON A. WILLIAMS M. HUMPHRIES C. L. HOOPER A. J. TRINDER M. BRUNHAM L. R. COSTA PEREIRA A. JANNES C. E. CHEN M. CHONIS J. WANG J. KIM S. JOHNSTON T. SOUČEK Přemysl KRAMÁREK Michal LEIGH. S. E CARRIÉ A. SIJBRANDS E. J. HEGELE. R. A FREIBERGER Tomáš KNOWLES J. W. BOURBON M.

  Article in Periodical

  Genetics In Medicine, year: 2022, volume: 24, edition: 2, DOI

• The time is now: Achieving FH paediatric screening across Europe – The Prague Declaration

  BEDLINGTON Nicole ABIFADEL Marianne BEGER Birgit BOURBON Mafalda BUENO Héctor CESKA Richard CILLÍKOVÁ Kristýna CIMICKÁ Zdenka DACCORD Magdalena BEAUFORT Carine de DHARMAYAT Kanika I FERENCE Brian A FREIBERGER Tomáš GEANTA Marius GIDDING Samuel S GROŠELJ Urh HALLE Martin JOHNSON Neil NOVAKOVIC Tanja MÁJEK Ondřej PALLIDIS Athanasios PERETTI Noel PINTO Fausto J RAY Kausik Kosh REES Bleddyn REEVE John REINER Željko SANTOS Raul D SCHUNKERT Heribert ŠIKONJA Jaka SOKOLOVIC Milka TOKGÖZOGLU Lale VRABLÍK Michal WIEGMAN Albert GUTIÉRREZ-IBARLUZEA Inaki

  Article in Periodical

  GMS health innovation and technologies, year: 2022, volume: 16, edition: September 2022, DOI

• Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

  TROMP Tycho R HARTGERS Merel L. HOVINGH G Kees VALLEJO-VAZ Antonio J. RAY Kausik K. SORAN Handrean FREIBERGER Tomáš BERTOLINI Stefano HARADA-SHIBA Mariko BLOM Dirk J. RAAL Frederick J. CUCHEL Marina

  Article in Periodical

  Lancet, year: 2022, volume: 399, edition: 10326, DOI

2021

• A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms

  KYSELÁK Ondřej SOŠKA Vladimír KOVAR Jan TICHY Lukas GROMBIŘÍKOVÁ Hana HUBACEK Jaroslav A. FREIBERGER Tomáš

  Article in Periodical

  Journal of Clinical Lipidology, year: 2021, volume: 15, edition: 3, DOI

• A spectrum of SERPING1 mutations and clinical characterisation of Czech Hereditary Angioedema patients.

  GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora GRODECKÁ Lucie HUJOVÁ Pavla HAKL Roman KUKLÍNEK Pavel ZACHOVÁ Radana SOBOTKOVÁ M. KRÁLÍČKOVÁ Pavlína KRYŠTŮVKOVÁ Olga ŠEDIVÁ Anna LITZMAN Jiří FREIBERGER Tomáš

  Conference abstract

  Year: 2021, type: Conference abstract

• Actinotignum schaalii: Relation to Concomitants and Connection to Patients’ Conditions in Polymicrobial Biofilms of Urinary Tract Catheters and Urines

  KOTÁSKOVÁ Iva SYROVÁTKA Vít OBRUČOVÁ Hana VÍDEŇSKÁ Petra ZWINSOVÁ Barbora HOLÁ Veronika BLAŠTÍKOVÁ Eva RŮŽIČKA Filip FREIBERGER Tomáš

  Article in Periodical

  Microorganisms, year: 2021, volume: 9, edition: 3, DOI

• Alternative splicing of PLAUR gene in macrophage differentiation stages of hereditary angioedema patients

  BALLONOVÁ Lucie SOUČEK Přemysl SLANINA Peter HAKL Roman VLKOVÁ Marcela FREIBERGER Tomáš

  Conference abstract

  Year: 2021, type: Conference abstract