prof. MUDr. Tomáš Freiberger, Ph.D. – Publications | Faculty of Medicine Masaryk University

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Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene

MARKOCSY Adam HRUBISKOVA Katarina HRUBISKO Martin FREIBERGER Tomáš GROMBIŘÍKOVÁ Hana DOLESOVA Lenka VAVROVA Ludmila Slivka BEHULOVA Regina Lohajova ONDRUSOVA Martina BANOVCIN Peter VORCAKOVA Karolina JESENAK Milos

Article in Periodical

WORLD ALLERGY ORGANIZATION JOURNAL, year: 2024, volume: 17, edition: 3, DOI

Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia

RASLOVA Katarina DONICOVA Viera GONOVA Katarina KLABNIK Alexander TICHÝ Lukáš BRIDGES Ian BUCKOVA Dagmar ZACHLEDEROVA Marie FREIBERGER Tomáš VOHNOUT Branislav

Article in Periodical

Journal of Clinical Lipidology, year: 2024, volume: 18, edition: 4, DOI

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

DHARMAYAT Kanika Inamdar VALLEJO-VAZ Antonio J STEVENS Christophe A T BRANDTS Julia M LYONS Alexander R M GROSELJ Urh ABIFADEL Marianne AGUILAR-SALINAS Carlos A ALHABIB Khalid ALKHNIFSAWI Mutaz ALMAHMEED Wael ALNOURI Fahad ALONSO Rodrigo AL-RASADI Khalid ASHAVAID Tester F BANACH Maciej BELIARD Sophie BINDER Christoph BOURBON Mafalda CHLEBUS Krzysztof CORRAL Pablo CRUZ Diogo DESCAMPS Olivier S DROGARI Euridiki DURST Ronen EZHOV Marat V GENEST Jacques HARADA-SHIBA Mariko HOLVEN Kirsten B HUMPHRIES Steve E KHOVIDHUNKIT Weerapan LALIC Katarina LAUFS Ulrich LIBEROPOULOS Evangelos LENNEP Jeanine Roeters van LIMA-MARTINEZ Marcos Miguel LIN Jie MAHER Vincent MAERZ Winfried MISEREZ Andre R MITCHENKO Olena NAWAWI Hapizah PANAYIOTOU Andrie G PARAGH Gyoergy POSTADZHIYAN Arman REDA Ashraf REINER Zeljko REYES Ximena SADIQ Fouzia SAHEBKAR Amirhossein SCHUNKERT Heribert SHEK Aleksandr B STROES Eric SU Ta-Chen SUBRAMANIAM Tavintharan SUSEKOV Andrey CARDENAS Alejandra Vazquez TRUONG Thanh Huong TSELEPIS Alexandros VOHNOUT Branislav WANG Luya YAMASHITA Shizuya AL-SARRAF Ahmad AL-SAYED Nasreen DAVLETOV Kairat DWIPUTRA Bambang GAITA Dan KAYIKCIOGLU Meral LATKOVSKIS Gustavs MARAIS A David MATTHIAS Anne Thushara MIRRAKHIMOV Erkin NORDESTGAARD Borge G PETRULIONIENE Zaneta POJSKIC Belma SADOH Wilson TILNEY Myra TOMLINSON Brian TYBJAERG-HANSEN Anne VIIGIMAA Margus CATAPANO Alberico L FREIBERGER Tomáš HOVINGH G Kees MATA Pedro SORAN Handrean RAAL Frederick WATTS Gerald F SCHREIER Laura BANARES Virginia GREBER-PLATZER Susanne BAUMGARTNER-KAUT Margot CHARLOTTE de Gier DIEPLINGER Hans HOELLERL Florian INNERHOFER Reinhold KARALL Daniela LISCHKA Julia LUDVIK Bernhard MAESER Martin SCHOLL-BUERGI Sabine THAJER Alexandra TOPLAK Hermann DEMEURE Fabian MERTENS Ann BALLIGAND Jean-Luc STEPHENNE Xavier SOKAL Etienne PETROV Ivo GOUDEV Assen NIKOLOV Fedya TISHEVA Snejana YOTOV Yoto TZVETKOV Ivajlo HEGELE Robert A GAUDET Daniel BRUNHAM Liam RUEL Isabelle MCCRINDLE Brian CUEVAS Ada PERICA Drazen SYMEONIDES Phivos TROGKANIS Efstratios KOSTIS Andreas IOANNOU Andreas MOUZAROU Angeliki GEORGIOU Anthoula STYLIANOU Andreas MILTIADOUS George IACOVIDES Paris DELTAS Constantinos VRABLIK Michal URBANOVA Zuzana JESINA Pavel TICHY Lukas HYANEK Josef DVORAKOVA Jana CEPOVA Jana SYKORA Josef BURESOVA Kristyna PIPEK Michal PISTKOVA Eva BARTKOVA Ivana ULAKOVA Astrid S TOUKALKOVA Lenka SPENEROVA Michaela MALY Jan BENN Marianne BENDARY Ahmed ELBAHRY Atef FERRIERES Jean FERRIERES Dorota PERETTI Noel BRUCKERT Eric GALLO Antonio VALERO Rene MOURRE Florian AOUCHICHE Karine REYNAUD Rachel TOUNIAN Patrick LEMALE Julie BOCCARA Franck MOULIN Philippe CHARRIERES Sybil MATHILDE Di Filippo CARIOU Bertrand PAILLARD Francois DOURMAP Caroline PRADIGNAC Alain VERGES Bruno SIMONEAU Isabelle FARNIER Michel COTTIN Yves YELNIK Cecile HANKARD Regis SCHIELE Francois DURLACH Vincent SULTAN Ariane CARRIE Alain RABES Jean-Pierre SANIN Veronika SCHMIEDER Roland ATES Sara RIZOS Christos V SKOUMAS Ioannis TZIOMALOS Konstantinos RALLIDIS Loukianos KOTSIS Vasileios DOUMAS Michalis SKALIDIS Emmanouil KOLOVOU Genovefa KOLOVOU Vana GAROUFI Anastasia KOUTAGIAR Iosif POLYCHRONOPOULOS Georgios KIOURI Estela ANTZA Christina ZACHARIS Evangelos ATTILAKOS Achilleas SFIKAS George KOUMARAS Charalambos ANAGNOSTIS Panagiotis ANASTASIOU Georgia LIAMIS George

Article in Periodical

Lancet, year: 2024, volume: 403, edition: 10421, DOI

Functional analysis of PLAUR alternative splicing isoforms and they role in the development of immunopathological reactions

KULÍŠKOVÁ Petra ZAPLETAL Ondřej SLANINA Peter ŠTÍCHOVÁ Julie VLKOVÁ Marcela LITZMAN Jiří NĚMEC Petr BAROŠ Jan BALLONOVÁ Lucie SOUČEK Přemysl FREIBERGER Tomáš

Conference abstract

Year: 2024, type: Conference abstract

Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia

SATNY Martin TODOROVOVA Veronika ALTSCHMIEDOVA Tereza HUBACEK Jaroslav A DLOUHA Lucie LANSKA Vera SOŠKA Vladimír KYSELÁK Ondřej FREIBERGER Tomáš BOBÁK Martin VRABLIK Michal

Article in Periodical

Journal of Clinical Lipidology, year: 2024, volume: 18, edition: 2, DOI

LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

KONEČNÁ Kateřina ZAPLETALOVA Petra FREIBERGER Tomáš TICHÝ Lukáš

Article in Periodical

LIPIDS IN HEALTH AND DISEASE, year: 2024, volume: 23, edition: 1, DOI

Novorozenecký screening těžké kombinované imunodeficience (SCID) v České republice

KLOCPERK Adam BLOOMFIELD Markéta SCHNEIDEROVÁ Helena HLAVÁČKOVÁ Eva TURNOVEC Marek TICHÝ Lukáš ČECH Zbyněk CHRASTINA Petr DVOŘÁKOVÁ Lenka PEŠKOVÁ Karolína FORMÁNKOVÁ Renata VLKOVÁ Marcela BEJDÁK Petr FROŇKOVÁ Eva KALINA Tomáš ŘÍČNÁ Dita GROMBIŘÍKOVÁ Hana BÍLY Viktor SEDLÁČEK Petr LITZMAN Jiří FREIBERGER Tomáš ŠEDIVÁ Anna