2022

• Common rearrangements of the LDLR gene in the Czech population likely arise from one mutational event.

  KONEČNÁ Kateřina TICHÝ Lukáš FREIBERGER Tomáš

  Conference abstract

  Year: 2022, type: Conference abstract

• Deficit lyzosomální kyselé lipázy - diferenciální diagnostika a možnosti léčby v roce 2022

  URBANOVÁ Zuzana MALINOVÁ Věra FREIBERGER Tomáš TICHÝ Lukáš VRABLÍK Michal

  Article in Periodical

  Athero Review, year: 2022, volume: 7, edition: 2

• Single-cell RNA sequencing analysis of T helper cell differentiation and heterogeneity

  JAROUŠEK Radim MIKULOVÁ Antónia DAĎOVÁ Petra TAUŠ Petr KURUCOVÁ Terézia PLEVOVÁ Karla TICHÝ Lukáš KUBALA Lukáš

  Conference abstract

  Year: 2022, type: Conference abstract

2021

• Breakpoints of two duplications in the LDL-receptor gene in the Czech Republic

  KONEČNÁ Kateřina TICHÝ Lukáš

  Conference abstract

  Year: 2021, type: Conference abstract

• 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

2020

• Validní zdroje informací o sekvenčních variantách lidského genomu na příkladu genu pro LDLR.

  TICHÝ Lukáš FREIBERGER Tomáš KONEČNÁ Kateřina ZAPLETALOVÁ Petra

  Conference abstract

  Year: 2020, type: Conference abstract

2019

• LDLR variants in the beta-propeller subdomain and their effect on the protein maturation and unfolded protein response.

  DUŠKOVÁ Lucie HUJŇÁKOVÁ Martina ZAPLETALOVÁ Petra FIALOVÁ J. RÉBLOVÁ Kamila TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2019, type: Conference abstract

2018

• Autosomal dominant hypercholesterolaemia

  HRUBÁ Zuzana TICHÝ Lukáš ZAPLETALOVÁ Petra PAVLOUŠKOVÁ Jana FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2018, type: Conference abstract

• ClinVar database of global familial hypercholesterolemia-associated DNA variants

  IACOCCA M.A. CHORA J.R. CARRIE A. FREIBERGER Tomáš LEIGH S.E. DEFESCHE J.C. KURTZ C.L. DISTEFANO M.T. SANTOS R.D. HUMPHRIES S.E. MATA P. JANNES C.E. HOOPER A.J. WILEMON K.A. BENLIAN P. O CONNOR R. GARCIA J. WAND H. TICHÝ Lukáš SIJBRANDS E.J. HEGELE R.A. BOURBON M. KNOWLES J.W.

  Article in Periodical

  Human Mutation, year: 2018, volume: 39, edition: 11, DOI

2017

• Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

  VRABLIK M. VACLOVA M. TICHÝ Lukáš SOŠKA Vladimír BLAHA V. FAJKUSOVÁ Lenka CESKA R. SATNY M. FREIBERGER Tomáš

  Article in Periodical

  Physiological research, year: 2017, volume: 66, edition: Suppl. 1