doc. MUDr. Tomáš Freiberger, Ph.D.

2017

• GRODECKA, L; KOVACOVA, T; KRAMAREK, M; SENECA, S; STOUFFS, K; DE LAET, C; MAJER, F; KRSJAKOVA, T; HUJOVA, P; HRNCIROVA, K; SOUCEK, P; LISSENS, W; BURATTI, E; FREIBERGER, T, 2017:Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation. JOURNAL OF MOLECULAR MEDICINE-JMM 95 (3), p. 299 - 309.

2016

• BRONSON, PG; CHANG, D; BHANGALE, T; SELDIN, MF; ORTMANNL, W; FERREIRA, RC; URCELAY, E; PEREIRA, LF; MARTIN, J; PLEBANI, A; LOUGARIS, V; FRIMAN, V; FREIBERGER, T; LITZMAN, J; THON, V; PAN-HAMMARSTROM, Q; HAMMARSTROM, L; GRAHAM, RR; BEHRENS, TW, 2016:Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. NATURE GENETICS 48 (11), p. 1425 - 1429.
• SANTOS, RD; GIDDING, SS; HEGELE, RA; CUCHEL, MA; BARTER, PJ; WATTS, GF; BAUM, SJ; CATAPANO, AL; CHAPMAN, MJ; DEFESCHE, JC; FOLCO, E; FREIBERGER, T; GENEST, J; HOVINGH, GK; HARADA-SHIBA, M; HUMPHRIES, SE; JACKSON, AS; MATA, P; MORIARTY, PM; RAAL, FJ; AL-RASADI, K; RAY, KK; REINER, Z; SIJBRANDS, EJG; YAMASHITA, S, 2016:Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. LANCET DIABETES & ENDOCRINOLOGY 4 (10), p. 850 - 861.
• SCHWARZOVA, L; HORINEK, A; HUBACEK, J; VRABLIK, M; FREIBERGER, T; TICHY, L; VAVERKOVA, H; CESKA, R, 2016:EFFECT OF APOE GENOTYPE ON LDL CHOLESTEROL LEVELS IN FH AND FDB PATIENTS: IS THERE SEX-SPECIFICALLY PROTECTIVE GENOTYPE?. ATHEROSCLEROSIS 252 , p. E40 - E40.

2015

• CHU, VH; PARK, LP; ATHAN, E; DELAHAYE, F; FREIBERGER, T; LAMAS, C; MIRO, JM; MUDRICK, DW; STRAHILEVITZ, J; TRIBOUILLOY, C; DURANTE-MANGONI, E; PERICAS, JM; FERNANDEZ-HIDALGO, N; NACINOVICH, F; RIZK, H; KRAJINOVIC, V; GIANNITSIOTI, E; HURLEY, JP; HANNAN, MM; WANG, A, 2015:Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis A Prospective Study From the International Collaboration on Endocarditis. CIRCULATION 131 (2), p. 131 - U46.
• CHU, VH; PARK, LP; ATHAN, E; DELAHAYE, F; FREIBERGER, T; LAMAS, C; MIRO, JM; MUDRICK, DW; STRAHILEVITZ, J; TRIBOUILLOY, C; DURANTE-MANGONI, E; PERICAS, JM; FERNANDEZ-HIDALGO, N; NACINOVICH, F; RIZK, H; KRAJINOVIC, V; GIANNITSIOTI, E; HURLEY, JP; HANNAN, MM; WANG, A, 2015:Response to Letter Regarding Article, "Association Between Surgical Indications, Operative Risk, and Clinical Outcome in Infective Endocarditis: A Prospective Study From the International Collaboration on Endocarditis". CIRCULATION 132 (14), p. E184 - E185.

2014

• CORNELY, OA; ARIKAN-AKDAGLI, S; DANNAOUI, E; GROLL, AH; LAGROU, K; CHAKRABARTI, A; LANTERNIER, F; PAGANO, L; SKIADA, A; AKOVA, M; ARENDRUP, MC; BOEKHOUT, T; CHOWDHARY, A; CUENCA-ESTRELLA, M; FREIBERGER, T; GUINEA, J; GUARRO, J; DE HOOG, S; HOPE, W; JOHNSO, 2014:ESCMID dagger and ECMM double dagger joint clinical guidelines for the diagnosis and management of mucormycosis 2013. CLINICAL MICROBIOLOGY AND INFECTION 20 , p. 5 - 26.
• GRODECKA, L; LOCKEROVA, P; RAVCUKOVA, B; BURATTI, E; BARALLE, FE; DUSEK, L; FREIBERGER, T, 2014:Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools. PLOS ONE 9 (2)
• TORTORANO, AM; RICHARDSON, M; ROILIDES, E; VAN DIEPENINGEN, A; CAIRA, M; MUNOZ, P; JOHNSON, E; MELETIADIS, J; PANA, ZD; LACKNER, M; VERWEIJ, P; FREIBERGER, T; CORNELY, OA; ARIKAN-AKDAGLI, S; DANNAOUI, E; GROLL, AH; LAGROU, K; CHAKRABARTI, A; LANTERNIER, F, 2014:ESCMID and ECMM joint guidelines on diagnosis and management of hyalohyphomycosis: Fusarium spp., Scedosporium spp. and others. CLINICAL MICROBIOLOGY AND INFECTION 20 , p. 27 - 46.

2013

• POTLUKOVA, E; FREIBERGER, T; LIMANOVA, Z; JISKRA, J; TELICKA, Z; BARTAKOVA, J; SPRINGER, D; VITKOVA, H; TRENDELENBURG, M, 2013:Association between Low Levels of Mannan-Binding Lectin and Markers of Autoimmune Thyroid Disease in Pregnancy. PLOS ONE 8 (12)