Filtrování

    2025

    1. BLOOMFIELD, Marketa; Eva HLAVÁČKOVÁ; Helena SCHNEIDEROVÁ; Marek TURNOVEC; Lukas TICHY; Zbynek CECH; Petr CHRASTINA; Lenka DVORAKOVA; Karolina PESKOVA; Renata FORMANKOVA; Petr RIHA; Marcela VLKOVÁ; Petr BEJDÁK; Magdalena HAVLISOVA; Eva FRONKOVA; Tomas KALINA; Viktor BÍLY; Dita RICNA; Hana GROMBIŘÍKOVÁ; Petr SEDLACEK; Jiří LITZMAN; Tomáš FREIBERGER; Anna SEDIVA a Adam KLOCPERK. Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme. PEDIATRIC ALLERGY AND IMMUNOLOGY. Hoboken: WILEY, 2025, roč. 36, č. 5, s. 1-11. ISSN 0905-6157. Dostupné z: https://doi.org/10.1111/pai.70100.
    2. STENLANDER, Caroline; Hannes LINDAHL; Emelie WAHREN-BORGSTROM; Christoph B GEIER; Anna SEDIVA; Borre FEVANG; Cinzia MILITO; Claudia VARANDAS; Cristina ROCA-OPORTO; Federica PULVIRENTI; Isabel HODL; Ivana MALKUSOVA; Jacques G RIVIERE; Jiří LITZMAN; Jolan E WALTER; Leif G HANITSCH; Olaf NETH; Pavlina KRALICKOVA; Rahim MILLER; Serena SHAFFREN; Susana L SILVA; Terese KATZENSTEIN; Timi MARTELIUS; Urs C STEINER; C I Edvard SMITH; Klaus WARNATZ a Peter BERGMAN. Bronchiectasis, Low IgG Levels and Lack of Vaccination are Risk Factors for Covid-19 Hospitalization in X-linked Agammaglobulinemia - A Retrospective Multicenter Study. Journal of Clinical Immunology. NEW YORK: SPRINGER/PLENUM PUBLISHERS, 2025, roč. 45, č. 1, s. 1-15. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-025-01962-3.
    3. CHIN, Aaron T; Hans D OCHS; Roger KOBAYASHI; Hassan ABOLHASSANI; Hana ALACHKAR; Sara BARMETTLER; Helen BAXENDALE; Kristina BOILING; Jason CATANZARO; Ignastius CHUA; Tanya COULTER; Charlotte CUNNINGHAM-RUNDLES; Suzanne E ELCOMBE; Alain FISCHER; Bodo GRIMBACHER; Sudhir GUPTA; Richard HERRIOT; Archana HERWADKAR; Kohsuke IMAI; Shota INOUE; Charles KIRKPATRICK; Alan P KNUTSEN; Dinakantha KUMARARATNE; Edward LEA; Lin MING-WEI; Jiří LITZMAN; Nizar MAHLAOUI; Kunihiko MORIYA; Shigeaki NONOYAMA; Smita PATEL; Elena PEREZ; Isabella QUINTI; Robert W HOSTOFFER; Simon ROTHENFUSSER; Ravishankar SARGUR; Adrian SHIELDS; Georgios SOGKAS; Dan SUAN; Tyng TAN; Moira THOMAS; Klaus WARNATZ; Elizabeth M YOUNGER a Caroline Y KUO. Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older. Journal of Allergy and Clinical Immunology. NEW YORK: MOSBY-ELSEVIER, 2025, roč. 13, č. 10, s. 2806-2816. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaip.2025.06.025.
    4. CHOVANCOVÁ, Zita; Eva HLAVÁČKOVÁ; Roman HAKL; Tomas MILOTA; Pavlina KRALICKOVA; Ivana MALKUSOVA; Beata HUTYROVA; Michaela SAFAROVA; Jana VYDLAKOVA; Dalibor JILEK; Jiri NOVAK; Helena SCHNEIDEROVÁ; Petra KRALOVA; Alena ZIMULOVA; Vitezslav NOVAK; Jaromir BYSTRON; Dita ZAVESKA; Vendula LATALOVA; Frantisek KOPRIVA; Milan KASL; Vladimir KRACIK; Renata FORMANKOVA; Petr SEDLACEK; Karolina VYTISKOVA; Michal SVOBODA; Hana NOVAKOVA a Jiří LITZMAN. First report from the Czech national registry of inborn errors of immunity (2012-2025). Frontiers in immunology. LAUSANNE: Frontiers Media S.A., 2025, roč. 16, September 2025, s. 1-14. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2025.1653685.
    5. KONEČNÁ, Kateřina; Tereza PŘEROVSKÁ; Tomáš LOJA; Lenka FAJKUSOVÁ; Jana KOUTNÁ; Michal KRAMÁREK; Ana Catarina ALVES; Mafalda BOURBON; Tomáš FREIBERGER a Lukáš TICHÝ. Functional characterization of 16 variants found in the LDL receptor gene. JOURNAL OF LIPID RESEARCH. AMSTERDAM: ELSEVIER, 2025, roč. 66, č. 9, s. 1-17. ISSN 0022-2275. Dostupné z: https://doi.org/10.1016/j.jlr.2025.100873.
    6. ELSHORBAGY, Amany; Antonio J VALLEJO-VAZ; Fotios BARKAS; Alexander R M LYONS; Christophe A T STEVENS; Kanika I DHARMAYAT; Alberico L CATAPANO; Tomáš FREIBERGER; G Kees HOVINGH; Pedro MATA; Frederick J RAAL; Raul D SANTOS; Handrean SORAN; Gerald F WATTS; Marianne ABIFADEL; Carlos A AGUILAR-SALINAS; Khalid F ALHABIB; Mutaz ALKHNIFSAWI; Wael ALMAHMEED; Fahad ALNOURI; Rodrigo ALONSO; Khalid AL-RASADI; Ahmad AL-SARRAF; Marcello ARCA; Tester F ASHAVAID; Maurizio AVERNA; Maciej BANACH; Marianne BECKER; Christoph J BINDER; Mafalda BOURBON; Liam R BRUNHAM; Krzysztof CHLEBUS; Pablo CORRAL; Diogo CRUZ; Kairat DAVLETOV; Olivier S DESCAMPS; Bambang DWIPUTRA; Marat EZHOV; Urh GROSELJ; Mariko HARADA-SHIBA; Kirsten B HOLVEN; Steve E HUMPHRIES; Meral KAYIKCIOGLU; Weerapan KHOVIDHUNKIT; Katarina LALIC; Gustavs LATKOVSKIS; Ulrich LAUFS; Evangelos LIBEROPOULOS; Marcos M LIMA-MARTINEZ; Vincent MAHER; A David MARAIS; Winfried MAERZ; Erkin MIRRAKHIMOV; Andre R MISEREZ; Olena MITCHENKO; Hapizah NAWAWI; Borge G NORDESTGAARD; Andrie G PANAYIOTOU; Gyoergy PARAGH; Zaneta PETRULIONIENE; Belma POJSKIC; Arman POSTADZHIYAN; Ashraf REDA; Zeljko REINER; Ximena REYES; Fouzia SADIQ; Wilson Ehidiamen SADOH; Heribert SCHUNKERT; Aleksandr B SHEK; Erik STROES; Ta-Chen SU; Tavintharan SUBRAMANIAM; Andrey V SUSEKOV; Myra TILNEY; Brian TOMLINSON; Thanh Huong TRUONG; Alexandros D TSELEPIS; Anne TYBJAERG-HANSEN; Alejandra VAZQUEZ-CARDENAS; Margus VIIGIMAA; Branislav VOHNOUT; Shizuya YAMASHITA a Kausik K RAY. Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry. European heart journal. Oxford: Oxford University Press, 2025, 14 s. ISSN 0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehae791.
    7. VLKOVÁ, Marcela; Julie ŠTÍCHOVÁ; Karolína SURÁ; Karolína DVOŘÁKOVÁ; Vojtěch KUNČICKÝ; Ioanna PAPATHEODOROU; Gabriela BLAŽKOVÁ; Zuzana TOMÁŠIKOVÁ; Kamila BENDÍČKOVÁ; Ludmila DOHNALKOVA; Alexandra MÝTNIKOVÁ; Jan ŽÁK; Jan KOVARIK; Milan KRTIČKA; Tomáš TOMÁŠ; Vladimir SRAMEK; Martin HELÁN; Anna KOCURKOVÁ; Jan FRIČ a Marcela HORTOVÁ KOHOUTKOVÁ. Pro-inflammatory role of neutrophils populations in trauma patients: monitoring neutrophil populations. Frontiers in immunology. LAUSANNE: Frontiers Media S.A., 2025, roč. 16, July 2025, s. 1-15. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2025.1565606.
    8. KAFOL, Jan; Beatriz MIRANDA; Rok SIKONJA; Jaka SIKONJA; Albert WIEGMAN; Ana Margarida MEDEIROS; Ana Catarina ALVES; Tomáš FREIBERGER; Barbara A HUTTEN; Matej MLINARIC; Tadej BATTELINO; Steve E HUMPHRIES; Mafalda BOURBON a Urh GROSELJ. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS). EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. OXFORD: OXFORD UNIV PRESS, 2025, 13 s. ISSN 2047-4873. Dostupné z: https://doi.org/10.1093/eurjpc/zwaf352.
    9. KLEVMOEN, Marianne; Janneke W C M MULDER; Martin P BOGSRUD; Kjetil RETTERSTOL; Elisabeth K VESTERBEKKMO; Eva K R PEDERSEN; Tomáš FREIBERGER; Michal VRABLIK; Martina VACLOVA; Anders HOVLAND; Nils Tore VETHE; Hilde Kristin BREKKE; Per Ole IVERSEN; Marit VEIEROD; Roeters van Lennep JEANINE a Kirsten B HOLVEN. Prospective study on breastfeeding, lipid profile and cardiovascular risk markers in women with familial hypercholesterolaemia: study protocol for the FH-FEMINA study. BMJ Open. London: BMJ Publishing Group, 2025, roč. 15, č. 4, s. 1-7. ISSN 2044-6055. Dostupné z: https://doi.org/10.1136/bmjopen-2024-092208.
    10. PAPATHEODOROU, Ioanna; Gabriela BLAZKOVA; Veronika BOSÁKOVÁ; Zuzana TOMÁŠIKOVÁ; Erin Rose SPEARING; Robin KLIEBER; Pavel OSTASOV; Julie ŠTÍCHOVÁ; Martina DVONČOVÁ; Alexandra MÝTNIKOVÁ; Jan EMMER; Kamila BENDÍČKOVÁ; Tomáš TOMÁŠ; Vladimír ŠRÁMEK; Petros KOLOVOS; Monika HOLUBOVA; Martin HELÁN; Marcela VLKOVÁ; Jan FRIČ a Marcela HORTOVÁ KOHOUTKOVÁ. Redefining the role of IL-18 in post-surgical recovery and sepsis: a key mediator of inflammation resolution. Journal of Translational Medicine. London: BMC, 2025, roč. 23, č. 1, s. 1-22. ISSN 1479-5876. Dostupné z: https://doi.org/10.1186/s12967-025-06652-7.
    11. KULÍŠKOVÁ, Petra; Ondřej ZAPLETAL; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ; Jan BAROŠ; Petr NĚMEC; Jiří LITZMAN; Přemysl SOUČEK a Tomáš FREIBERGER. Rheumatoid arthritis and bronchial asthma are associated with changes in PLAUR gene expression in monocytes and macrophages. Gene. Amsterdam: Elsevier, 2025, roč. 972, November 2025, s. 1-10. ISSN 0378-1119. Dostupné z: https://doi.org/10.1016/j.gene.2025.149837.
    12. FLYER, Jonathan N; Tomáš FREIBERGER; Adam L WARE a Amy L PETERSON. State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia. AMERICAN JOURNAL OF PREVENTIVE CARDIOLOGY. AMSTERDAM: ELSEVIER, 2025, roč. 23, September 2025, s. 1-8. ISSN 2666-6677. Dostupné z: https://doi.org/10.1016/j.ajpc.2025.101262.
    13. BUTTGEREIT, Thomas; Felix AULENBACHER; Adil ADATIA; Carolina Vera AYALA; Maryam Ali AL-NESF; Sabine ALTRICHTER; Mohamed ABUZAKOUK; Mona AL-AHMAD; Ramzy Mohammed ALI; Alejandro BERARDI; Isabelle BOCCON-GIBOD; Laurence BOUILLET; Luisa BRUSSINO; Marko BARESIC; Paula J BUSSE; Stephen D BETSCHEL; Herberto CHONG-NETO; Oscar Calderon LLOSA; Timothy J CRAIG; Anthony D DORR; Sergio Duarte Dortas JUNIOR; Daria FOMINA; Henriette FARKAS; Jie Shen FOK; Anete S GRUMACH; Jens GREVE; Mar GUILARTE; Margarida GONCALO; Vesna GRIVCHEVA-PANOVSKA; Michihiro HIDE; Roman HAKL; Ankur JINDAL; Constance H KATELARIS; Shailajah KAMALESWARAN; Tamar KINACIYAN; Elena LATYSHEVA; Jose Ignacio Larco SOUSA; Ramon Lleonart BELLFILL; Hassan MOBAYED; Martin METZ; Iman NASR; Natasa T MITREVSKA; Stefania NICOLA; Claudio Alberto Salvador PARISI; Grzegorz POREBSKI; Jonny PETER; Mariana Paes Leme FERRIANI; Nelson Rosario FILHO; Buelent Enis SEKEREL; Faradiba Sarquis SERPA; Marcin STOBIECKI; Susanne TRAINOTTI; Anna VALERIEVA; Chamard WONGSA; Jane C Y WONG; Esra YUCEL; Yinglei LI; Chiara NENCI; Marcus MAURER; Markus MAGERL a Philip H LI. Unmet needs in hereditary angioedema: an international survey of physicians. Orphanet Journal of Rare Diseases. London: BMC, 2025, roč. 20, č. 1, s. 1-14. ISSN 1750-1172. Dostupné z: https://doi.org/10.1186/s13023-025-03739-8.

    2024

    1. ELSHORBAGY, Amany; Alexander R M LYONS; Antonio J VALLEJO-VAZ; Christophe A T STEVENS; Kanika I DHARMAYAT; Julia BRANDTS; Alberico L CATAPANO; Tomáš FREIBERGER; G Kees HOVINGH; Pedro MATA; Frederick J RAAL; Raul D SANTOS; Handrean SORAN; Gerald F WATTS; Marianne ABIFADEL; Carlos A AGUILAR-SALINAS; Khalid F ALHABIB; Mutaz ALKHNIFSAWI; Wael ALMAHMEED; Fahad ALNOURI; Rodrigo ALONSO; Khalid AL-RASADI; Ahmad AL-SARRAF; Tester F ASHAVAID; Maciej BANACH; Christoph J BINDER; Mafalda BOURBON; Liam R BRUNHAM; Krzysztof CHLEBUS; Pablo CORRAL; Diogo CRUZ; Kairat DAVLETOV; Olivier S DESCAMPS; Marat EZHOV; Dan GAITA; Urh GROSELJ; Mariko HARADA-SHIBA; Kirsten B HOLVEN; Meral KAYIKCIOGLU; Weerapan KHOVIDHUNKIT; Katarina LALIC; Gustavs LATKOVSKIS; Ulrich LAUFS; Evangelos LIBEROPOULOS; Marcos M LIMA-MARTINEZ; Jie LIN; Vincent MAHER; A David MARAIS; Winfried MARZ; Erkin MIRRAKHIMOV; Andre R MISEREZ; Olena MITCHENKO; Hapizah NAWAWI; Borge G NORDESTGAARD; Andrie G PANAYIOTOU; Gyorgy PARAGH; Zaneta PETRULIONIENE; Belma POJSKIC; Arman POSTADZHIYAN; Ashraf REDA; Zeljko REINER; Ximena REYES; Fouzia SADIQ; Wilson E SADOH; Heribert SCHUNKERT; Aleksandr B SHEK; Erik STROES; Ta-Chen SU; Tavintharan SUBRAMANIAM; Andrey V SUSEKOV; Myra TILNEY; Brian TOMLINSON; Truong THANH-HUONG; Alexandros D TSELEPIS; Anne TYBJAERG-HANSEN; Alejandra C VAZQUEZ; Margus VIIGIMAA; Branislav VOHNOUT; Luya WANG; Shizuya YAMASHITA; Marcello ARCA; Maurizio AVERNA a Kausik K RAY. Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study. LANCET DIABETES & ENDOCRINOLOGY. NEW YORK: ELSEVIER SCIENCE INC, 2024, roč. 12, č. 11, s. 811-823. ISSN 2213-8587. Dostupné z: https://doi.org/10.1016/S2213-8587(24)00221-3.
    2. HLAVÁČKOVÁ, Eva; Zdenka KŘENOVÁ; Arpád KEREKES; Peter SLANINA a Marcela VLKOVÁ. B cell subsets reconstitution and immunoglobulin levels in children and adolescents with B non-Hodgkin lymphoma after treatment with single anti CD20 agent dose included in chemotherapeutic protocols: single center and review of the literature. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, 2024, roč. 168, č. 2, s. 167-176. ISSN 1213-8118. Dostupné z: https://doi.org/10.5507/bp.2023.021.
    3. MARKOCSY, Adam; Katarina HRUBISKOVA; Martin HRUBISKO; Tomáš FREIBERGER; Hana GROMBIŘÍKOVÁ; Lenka DOLESOVA; Ludmila Slivka VAVROVA; Regina Lohajova BEHULOVA; Martina ONDRUSOVA; Peter BANOVCIN; Karolina VORCAKOVA a Milos JESENAK. Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene. WORLD ALLERGY ORGANIZATION JOURNAL. AMSTERDAM: ELSEVIER, 2024, roč. 17, č. 3, s. 1-13. ISSN 1939-4551. Dostupné z: https://doi.org/10.1016/j.waojou.2024.100885.
    4. KOBAYASHI, Roger H; Joanna MALTESE; Jiří LITZMAN; Huub KREUWEL; Theresa ZEKOLL; Ai Lan KOBAYASHI a Sudhir GUPTA. Customizing subcutaneous immunoglobulin administration in primary antibody deficiency: patient-centric care perspectives. IMMUNOTHERAPY. London: FUTURE MEDICINE LTD, 2024, roč. 16, 20-22, s. 1235-1245. ISSN 1750-743X. Dostupné z: https://doi.org/10.1080/1750743X.2024.2436343.
    5. RASLOVA, Katarina; Viera DONICOVA; Katarina GONOVA; Alexander KLABNIK; Lukáš TICHÝ; Ian BRIDGES; Dagmar BUCKOVA; Marie ZACHLEDEROVA; Tomáš FREIBERGER a Branislav VOHNOUT. Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia. Journal of Clinical Lipidology. New York: ELSEVIER SCIENCE INC, 2024, roč. 18, č. 4, s. "e537"-"e547", 11 s. ISSN 1933-2874. Dostupné z: https://doi.org/10.1016/j.jacl.2024.03.009.
    6. LERU, Polliana Mihaela; Vlad Florin ANTON; Zita CHOVANCOVA; Jan BAROŠ; Konrad SOCHA; Valentina PETKOVA a Marcin KUROWSKI. Evaluation of respiratory allergies burden and management in primary care and comparative analysis of health care data from Romania, Poland, Czech Republic and Bulgaria - preliminary study. ROMANIAN JOURNAL OF INTERNAL MEDICINE. WARSAW: SCIENDO, 2024, roč. 62, č. 3, s. 341-355. ISSN 1582-3296. Dostupné z: https://doi.org/10.2478/rjim-2024-0018.
    7. DHARMAYAT, Kanika Inamdar; Antonio J VALLEJO-VAZ; Christophe A T STEVENS; Julia M BRANDTS; Alexander R M LYONS; Urh GROSELJ; Marianne ABIFADEL; Carlos A AGUILAR-SALINAS; Khalid ALHABIB; Mutaz ALKHNIFSAWI; Wael ALMAHMEED; Fahad ALNOURI; Rodrigo ALONSO; Khalid AL-RASADI; Tester F ASHAVAID; Maciej BANACH; Sophie BELIARD; Christoph BINDER; Mafalda BOURBON; Krzysztof CHLEBUS; Pablo CORRAL; Diogo CRUZ; Olivier S DESCAMPS; Euridiki DROGARI; Ronen DURST; Marat V EZHOV; Jacques GENEST; Mariko HARADA-SHIBA; Kirsten B HOLVEN; Steve E HUMPHRIES; Weerapan KHOVIDHUNKIT; Katarina LALIC; Ulrich LAUFS; Evangelos LIBEROPOULOS; Jeanine Roeters van LENNEP; Marcos Miguel LIMA-MARTINEZ; Jie LIN; Vincent MAHER; Winfried MAERZ; Andre R MISEREZ; Olena MITCHENKO; Hapizah NAWAWI; Andrie G PANAYIOTOU; Gyoergy PARAGH; Arman POSTADZHIYAN; Ashraf REDA; Zeljko REINER; Ximena REYES; Fouzia SADIQ; Amirhossein SAHEBKAR; Heribert SCHUNKERT; Aleksandr B SHEK; Eric STROES; Ta-Chen SU; Tavintharan SUBRAMANIAM; Andrey SUSEKOV; Alejandra Vazquez CARDENAS; Thanh Huong TRUONG; Alexandros TSELEPIS; Branislav VOHNOUT; Luya WANG; Shizuya YAMASHITA; Ahmad AL-SARRAF; Nasreen AL-SAYED; Kairat DAVLETOV; Bambang DWIPUTRA; Dan GAITA; Meral KAYIKCIOGLU; Gustavs LATKOVSKIS; A David MARAIS; Anne Thushara MATTHIAS; Erkin MIRRAKHIMOV; Borge G NORDESTGAARD; Zaneta PETRULIONIENE; Belma POJSKIC; Wilson SADOH; Myra TILNEY; Brian TOMLINSON; Anne TYBJAERG-HANSEN; Margus VIIGIMAA; Alberico L CATAPANO; Tomáš FREIBERGER; G Kees HOVINGH; Pedro MATA; Handrean SORAN; Frederick RAAL; Gerald F WATTS; Laura SCHREIER; Virginia BANARES; Susanne GREBER-PLATZER; Margot BAUMGARTNER-KAUT; de Gier CHARLOTTE; Hans DIEPLINGER; Florian HOELLERL; Reinhold INNERHOFER; Daniela KARALL; Julia LISCHKA; Bernhard LUDVIK; Martin MAESER; Sabine SCHOLL-BUERGI; Alexandra THAJER; Hermann TOPLAK; Fabian DEMEURE; Ann MERTENS; Jean-Luc BALLIGAND; Xavier STEPHENNE; Etienne SOKAL; Ivo PETROV; Assen GOUDEV; Fedya NIKOLOV; Snejana TISHEVA; Yoto YOTOV; Ivajlo TZVETKOV; Robert A HEGELE; Daniel GAUDET; Liam BRUNHAM; Isabelle RUEL; Brian MCCRINDLE; Ada CUEVAS; Drazen PERICA; Phivos SYMEONIDES; Efstratios TROGKANIS; Andreas KOSTIS; Andreas IOANNOU; Angeliki MOUZAROU; Anthoula GEORGIOU; Andreas STYLIANOU; George MILTIADOUS; Paris IACOVIDES; Constantinos DELTAS; Michal VRABLIK; Zuzana URBANOVA; Pavel JESINA; Lukas TICHY; Josef HYANEK; Jana DVORAKOVA; Jana CEPOVA; Josef SYKORA; Kristyna BURESOVA; Michal PIPEK; Eva PISTKOVA; Ivana BARTKOVA; Astrid S ULAKOVA; Lenka TOUKALKOVA; Michaela SPENEROVA; Jan MALY; Marianne BENN; Ahmed BENDARY; Atef ELBAHRY; Jean FERRIERES; Dorota FERRIERES; Noel PERETTI; Eric BRUCKERT; Antonio GALLO; Rene VALERO; Florian MOURRE; Karine AOUCHICHE; Rachel REYNAUD; Patrick TOUNIAN; Julie LEMALE; Franck BOCCARA; Philippe MOULIN; Sybil CHARRIERES; Di Filippo MATHILDE; Bertrand CARIOU; Francois PAILLARD; Caroline DOURMAP; Alain PRADIGNAC; Bruno VERGES; Isabelle SIMONEAU; Michel FARNIER; Yves COTTIN; Cecile YELNIK; Regis HANKARD; Francois SCHIELE; Vincent DURLACH; Ariane SULTAN; Alain CARRIE; Jean-Pierre RABES; Veronika SANIN; Roland SCHMIEDER; Sara ATES; Christos V RIZOS; Ioannis SKOUMAS; Konstantinos TZIOMALOS; Loukianos RALLIDIS; Vasileios KOTSIS; Michalis DOUMAS; Emmanouil SKALIDIS; Genovefa KOLOVOU; Vana KOLOVOU; Anastasia GAROUFI; Iosif KOUTAGIAR; Georgios POLYCHRONOPOULOS; Estela KIOURI; Christina ANTZA; Evangelos ZACHARIS; Achilleas ATTILAKOS; George SFIKAS; Charalambos KOUMARAS; Panagiotis ANAGNOSTIS; Georgia ANASTASIOU a George LIAMIS. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. NEW YORK: ELSEVIER SCIENCE INC, 2024, roč. 403, č. 10421, s. 55-66. ISSN 0140-6736. Dostupné z: https://doi.org/10.1016/S0140-6736(23)01842-1.
    8. SATNY, Martin; Veronika TODOROVOVA; Tereza ALTSCHMIEDOVA; Jaroslav A HUBACEK; Lucie DLOUHA; Vera LANSKA; Vladimír SOŠKA; Ondřej KYSELÁK; Tomáš FREIBERGER; Martin BOBÁK a Michal VRABLIK. Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia. Journal of Clinical Lipidology. NEW YORK: ELSEVIER SCIENCE INC, 2024, roč. 18, č. 2, s. "e230"-"e237", 8 s. ISSN 1933-2874. Dostupné z: https://doi.org/10.1016/j.jacl.2023.11.010.
    9. KONEČNÁ, Kateřina; Petra ZAPLETALOVA; Tomáš FREIBERGER a Lukáš TICHÝ. LDLR gene rearrangements in Czech FH patients likely arise from one mutational event. LIPIDS IN HEALTH AND DISEASE. LONDON: BMC, 2024, roč. 23, č. 1, s. 1-11. ISSN 1476-511X. Dostupné z: https://doi.org/10.1186/s12944-024-02013-3.
    10. ŠTÍCHOVÁ, Julie; Peter SLANINA; Zita CHOVANCOVÁ; Jan BAROŠ; Marek LITZMAN; Jiří LITZMAN a Marcela VLKOVÁ. Low CD46 expression on activated CD4+ T cells predict improved Th1 cell reactivity to calcitriol in majority of patients with allergic eosinophilic asthma and healthy donors. Frontiers in Allergy. Lausanne: Frontiers, 2024, roč. 5, September 2024, s. 1-18. ISSN 2673-6101. Dostupné z: https://doi.org/10.3389/falgy.2024.1462579.
    11. KÝR, Michal; Peter MÚDRY; Kristýna POLÁŠKOVÁ; Lenka ZDRAŽILOVÁ DUBSKÁ; Regina DEMLOVÁ; Jana KUBÁTOVÁ; Eva HLAVÁČKOVÁ; Kateřina ČERNÁ PILÁTOVÁ; Pavel MAZANEK; Klára VEJMĚLKOVÁ; Vítězslav DUŠEK; Pavel TINKA; Martin BALÁŽ; Tomáš MERTA; Zuzana KUTTNEROVÁ; Terézia TUREKOVÁ; Zdeněk PAVELKA; Petra POKORNÁ; Hana PÁLOVÁ; Marie MLNAŘÍKOVÁ; Marta JEŽOVÁ; Renata KELLNEROVÁ; Šárka KOZÁKOVÁ; Ondřej SLABÝ; Dalibor VALÍK a Jaroslav ŠTĚRBA. Personalized dendritic cell vaccine in multimodal individualized combination therapy improves survival in high-risk pediatric cancer patients. International journal of cancer. HOBOKEN: WILEY, 2024, roč. 155, č. 8, s. 1443-1454. ISSN 0020-7136. Dostupné z: https://doi.org/10.1002/ijc.35062.
    12. SLANINA, Peter; Julie ŠTÍCHOVÁ; Veronika BOSÁKOVÁ; Iva STANICZKOVÁ ZAMBO; Marcela HORTOVÁ KOHOUTKOVÁ; Petra LÁZNIČKOVÁ; Zita CHOVANCOVÁ; Jiří LITZMAN; Terezie STEJSKALOVÁ; Jan FRIČ a Marcela VLKOVÁ. Phenotype and oxidative burst of low-density neutrophil subpopulations are altered in common variable immunodeficiency patients. CYTOMETRY PART B-CLINICAL CYTOMETRY. UNITED STATES: WILEY, 2024, roč. 106, č. 2, s. 99-112. ISSN 1552-4949. Dostupné z: https://doi.org/10.1002/cyto.b.22150.
    13. KRAMÁREK, Michal; Přemysl SOUČEK; Kamila RÉBLOVÁ; Lucie KAJAN GRODECKA a Tomáš FREIBERGER. Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs. Nucleic acids research. Oxford: Oxford University Press, 2024, roč. 52, č. 10, s. 5959-5974. ISSN 0305-1048. Dostupné z: https://doi.org/10.1093/nar/gkae147.
    14. WAI, Htoo A; Eliška SVOBODOVÁ; Natalia Romero HERRERA; Andrew G L DOUGLAS; John W HOLLOWAY; Francisco E BARALLE; Marco BARALLE a Diana BARALLE. Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders. EXPERIMENTAL AND MOLECULAR MEDICINE. LONDON: SPRINGER NATURE, 2024, roč. 56, č. 8, s. 1816-1825. ISSN 1226-3613. Dostupné z: https://doi.org/10.1038/s12276-024-01292-1.
    15. BUTTGEREIT, T.; F. AULENBACHER; A. GUTSCHE; P. KOLKHIR; K. WELLER; C. VERA AYALA; M. MAGERL; H. FARKAS; A. S. GRUMACH; E. AYGOEREN-PUERSUEN; N. BARA; M. BEN-SHOSHAN; J. BERNSTEIN; S. BETSCHEL; L. BOUILLET; T. CABALLERO; M. CANCIAN; A. J. CASTALDO; S. CIMBOLLEK; D. M. COHN; T. CRAIG; D. FOMINA; A. GELINCIK; V. GRIVCHEVA-PANOVSKA; A. JINDAL; C. KATELARIS; A. KESSEL; T. KINACIYAN; H. J. LONGHURST; I. MARTINEZ-SAGUER; M. RIEDL; C. SCHOEFFL; P. STAUBACH; A. ZANICHELLI; Y. ZHI; H. BALLE BOYSEN; J. S. FOK; P. H. LI; Roman HAKL; M. HIDE; J. PETER a M. MAURER. The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation. CLINICAL AND EXPERIMENTAL ALLERGY. Hoboken: WILEY, 2024, roč. 54, č. 9, s. 712-716. ISSN 0954-7894. Dostupné z: https://doi.org/10.1111/cea.14527.
    16. STAUBACH, Petra; Raffi TACHDJIAN; H. Henry LI; Roman HAKL; Emel AYGÖREN-PÜRSÜN; Lolis WIEMAN; Lawo JOHN-PHILIP a Timothy J. CRAIG. Timing of Onset of Garadacimab for Preventing Hereditary Angioedema Attacks. Clinical & Experimental Allergy. Hoboken: Wiley, 2024, roč. 54, č. 12, s. 1020-1023. ISSN 0954-7894. Dostupné z: https://doi.org/10.1111/cea.14568.
    17. SOOMANN, Maarja; Viktor BÍLY; Magdeldin ELGIZOULI; Dennis KRAEMER; Gulfirde AKGUL; von Bernuth HORST; Marketa BLOOMFIELD; Nicholas BRODSZKI; Fabio CANDOTTI; Elisabeth FORSTER-WALDL; Tomáš FREIBERGER; Maria GIZEWSKA; Adam KLOCPERK; Uwe KOELSCH; Kim E NICHOLS; Renate KRUEGER; Ninad OAK; Malorzata PAC; Seraina PRADER; Kjeld SCHMIEGELOW; Anna SEDIVA; Georgios SOGKAS; Anna STITTRICH; Ulrik Kristoffer STOLTZE; Katerina THEODOROPOULOU; Karin WADT; Melanie WONG; Maximillian ZEYDA; Jana Pachlopnik SCHMID a Johannes TRUCK. Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2024, roč. 154, č. 5, s. 1313-1331. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2024.08.002.

    2023

    1. AYGOEREN-PUERSUEN, Emel; Andrea ZANICHELLI; Danny M COHN; Mauro CANCIAN; Roman HAKL; Tamar KINACIYAN; Markus MAGERL; Inmaculada MARTINEZ-SAGUER; Marcin STOBIECKI; Henriette FARKAS; Sorena KIANI-ALIKHAN; Vesna GRIVCHEVA-PANOVSKA; Jonathan A BERNSTEIN; H Henry LI; Hilary J LONGHURST; Paul K AUDHYA; Michael SMITH; Christopher M YEA; Andreas MAETZEL; Daniel K LEE; Edward P FEENER; Richard GOWER; William R LUMRY; Aleena BANERJI; Marc A RIEDL a Marcus MAURER. An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: atwo-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial. Lancet. New York: Elsevier Science Inc., 2023, roč. 401, č. 10375, s. 458-469. ISSN 0140-6736. Dostupné z: https://doi.org/10.1016/S0140-6736(22)02406-0.
    2. TOM, Le Voyer; Audrey V PARENT; Xian LIU; Axel CEDERHOLM; Adrian GERVAIS; Jeremie ROSAIN; Tina NGUYEN; Malena Perez LORENZO; Elze RACKAITYTE; Darawan RINCHAI; Peng ZHANG; Lucy BIZIEN; Gonca HANCIOGLU; Pascale GHILLANI-DALBIN; Jean-Luc CHARUEL; Quentin PHILIPPOT; Mame Sokhna GUEYE; Majistor Raj Luxman Maglorius RENKILARAJ; Masato OGISHI; Camille SOUDEE; Melanie MIGAUD; Flore ROZENBERG; Mana MOMENILANDI; Quentin RILLER; Luisa IMBERTI; Ottavia M DELMONTE; Gabriele MUELLER; Baerbel KELLER; Julio ORREGO; William Alexander Franco GALLEGO; Tamar RUBIN; Melike EMIROGLU; Nima PARVANEH; Daniel ERIKSSON; Maribel ARANDA-GUILLEN; David I BERRIOS; Linda VONG; Constance H KATELARIS; Peter MUSTILLO; Johannes RAEDLER; Jonathan BOHLEN; Jale Bengi CELIK; Camila ASTUDILLO; Sarah WINTER; Catriona MCLEAN; Aurelien GUFFROY; Joseph L DERISI; David YU; Corey MILLER; Yi FENG; Audrey GUICHARD; Vivien BEZIAT; Jacinta BUSTAMANTE; Qiang PAN-HAMMARSTROM; Yu ZHANG; Lindsey B ROSEN; Steve M HOLLAND; Marita BOSTICARDO; Heather KENNEY; Riccardo CASTAGNOLI; Charlotte A SLADE; Kaan BOZTUG; Nizar MAHLAOUI; Sylvain LATOUR; Roshini S ABRAHAM; Vassilios LOUGARIS; Fabian HAUCK; Anna SEDIVA; Faranaz ATSCHEKZEI; Georgios SOGKAS; M Cecilia POLI; Mary A SLATTER; Boaz PALTERER; Michael D KELLER; Alberto PINZON-CHARRY; Anna SULLIVAN; Luke DRONEY; Daniel SUAN; Melanie WONG; Alisa KANE; Hannah HU; Cindy MA; Hana GROMBIŘÍKOVÁ; Peter CIZNAR; Ilan DALAL; Nathalie ALADJIDI; Miguel HIE; Estibaliz LAZARO; Jose FRANCO; Sevgi KELES; Marion MALPHETTES; Marlene PASQUET; Maria Elena MACCARI; Andrea MEINHARDT; Aydan IKINCIOGULLARI; Mohammad SHAHROOEI; Fatih CELMELI; Patrick FROSK; Christopher C GOODNOW; Paul E GRAY; Alexandre BELOT; Hye Sun KUEHN; Sergio D ROSENZWEIG; Makoto MIYARA; Francesco LICCIARDI; Amelie SERVETTAZ; Vincent BARLOGIS; Le Guenno GUILLAUME; Vera-Maria HERRMANN; Taco KUIJPERS; Gregoire DUCOUX; Francoise SARROT-REYNAULD; Catharina SCHUETZ; Charlotte CUNNINGHAM-RUNDLES; Frederic RIEUX-LAUCAT; Stuart G TANGYE; Cristina SOBACCHI; Rainer DOFFINGER; Klaus WARNATZ; Bodo GRIMBACHER; Claire FIESCHI; Laureline BERTELOOT; Vanessa L BRYANT; Sophie Trouillet ASSANT; Helen SU; Benedicte NEVEN; Laurent ABEL; Qian ZHANG; Bertrand BOISSON; Aurelie COBAT; Emmanuelle JOUANGUY; Olle KAMPE; Paul BASTARD; Chaim M ROIFMAN; Nils LANDEGREN; Luigi D NOTARANGELO; Mark S ANDERSON; Jean-Laurent CASANOVA a Anne PUEL. Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency. Nature. BERLIN: NATURE PORTFOLIO, 2023, roč. 623, č. 7988, s. 803-813. ISSN 0028-0836. Dostupné z: https://doi.org/10.1038/s41586-023-06717-x.
    3. AMBROSIONI, Juan; Marta HERNANDEZ-MENESES; Emanuele DURANTE-MANGONI; Pierre TATTEVIN; Lars OLAISON; Tomáš FREIBERGER; John HURLEY; Margaret M HANNAN; Vivian CHU; Bruno HOEN; Asuncion MORENO; Guillermo CUERVO; Jaume LLOPIS a Jose M MIRO. Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012). INFECTIOUS DISEASES AND THERAPY. London: SPRINGER LONDON LTD, 2023, roč. 12, č. 4, s. 1083-1101. ISSN 2193-8229. Dostupné z: https://doi.org/10.1007/s40121-023-00763-8.
    4. IZAKOVIČOVÁ, Pavla; Simona SLEZÁKOVÁ; Zuzana ZAKOSTELSKA JIRASKOVA; Jana ŠÍSTKOVÁ; Natálie MLČŮCHOVÁ; Jirina BARTOVA; Jitka PETANOVA; Pavel KUKLÍNEK; Antonín FASSMANN; Ladislav DUŠEK; Lydie IZAKOVIČOVÁ HOLLÁ a Petra BOŘILOVÁ LINHARTOVÁ. Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study. JOURNAL OF ORAL PATHOLOGY & MEDICINE. HOBOKEN: WILEY, 2023, roč. 52, č. 1, s. 81-90. ISSN 0904-2512. Dostupné z: https://doi.org/10.1111/jop.13385.
    5. KREBSOVÁ, Alice; Eva KUTÍLKOVÁ; Veronika ZOUBKOVÁ; Terezia TAVAČOVÁ; Petra PELDOVÁ; Lenka PIHEROVÁ; Pavel VOTÝPKA; Štěpánka POHLOVÁ KUČEROVÁ; Ilga GROCHOVÁ; Andrea GŘEGOŘOVÁ; Daniela ŽÁKOVÁ; Tomáš FREIBERGER; Jan JANOUŠEK; Tomáš NOVOTNÝ a Milan MACEK. Genetické vyšetření v kardiologii:Souhrnné vyjádření a doporučení odborníků Pracovní skupiny kardiogenetiky při ČAPK/ČKS , SLG a ČSSL a ST při ČLS JEP. COR ET VASA. PRAGUE: CZECH SOC CARDIOLOGY & CZECH SOC CARDIOVASCULAR SURGERY, 2023, roč. 65, č. 5, s. 798-805. ISSN 0010-8650. Dostupné z: https://doi.org/10.33678/cor.2023.057.
    6. HORTOVÁ KOHOUTKOVÁ, Marcela; Monika SKOTÁKOVÁ; Isaac G. ONYANGO; Miriam SLEZÁKOVÁ; Roman PANOVSKÝ; Lukáš OPATŘIL; Peter SLANINA; Marco DE ZUANI; Ondřej MRKVA; Ivana ANDREJČINOVÁ; Petra LÁZNIČKOVÁ; Martina DVONČOVÁ; Alexandra MÝTNIKOVÁ; Vaughn OSTLAND; Michal ŠITINA; Gorazd B. STOKIN; Vladimír ŠRÁMEK; Marcela VLKOVÁ; Martin HELÁN a Jan FRIČ. Hepcidin and ferritin levels as markers of immune cell activation during septic shock, severe COVID-19 and sterile inflammation. FRONTIERS IN IMMUNOLOGY. SWITZERLAND: FRONTIERS MEDIA SA, 2023, roč. 14, January 2023, s. 1-10. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2023.1110540.
    7. WERFF, ten Bosch Jutte van der; Eva HLAVÁČKOVÁ; Charlotte DERPOORTER; Ute FISCHER; Francesco SAETTINI; Sujal GHOSH; Roula FARAH; Delfien BOGAERT; Rabea WAGENER; Jan LOEFFEN; Chris M BACON a Simon BOMKEN. How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist. Pediatric Hematology and Oncology. Philadelphia: Taylor & Francis, 2023, roč. 40, č. 2, s. 131-146. ISSN 0888-0018. Dostupné z: https://doi.org/10.1080/08880018.2022.2085830.
    8. TAR, Ildiko; Marta SZEGEDI; Ewa KRASUSKA-SLAWINSKA; Edyta HEROPOLITANSKA-PLISZKA; Ewa a BERNATOWSKA; Elif ONCU; Sevgi KELES; Sukru n GUNER; Ismail REISLI; Nevena GESHEVA; Elissaveta NAUMOVA; Lydie IZAKOVIČOVÁ HOLLÁ; Jiří LITZMAN; Igor SAVCHAK; Larysa KOSTYUCHENKO a Melinda ERDOS. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY. POZNAN: TERMEDIA PUBLISHING HOUSE LTD, 2023, roč. 48, č. 3, s. 228-236. ISSN 1426-3912. Dostupné z: https://doi.org/10.5114/ceji.2023.130874.
    9. BALLONOVÁ, Lucie; Přemysl SOUČEK; Peter SLANINA; Kamila RÉBLOVÁ; Ondřej ZAPLETAL; Marcela VLKOVÁ; Roman HAKL; Viktor BÍLY; Hana GROMBIŘÍKOVÁ; Eliška SVOBODOVÁ; Petra KULÍŠKOVÁ; Julie ŠTÍCHOVÁ; Marta SOBOTKOVÁ; Zachová RADANA; Jana HANZLÍKOVÁ; Martina VACHOVÁ; Pavlína KRÁLÍČKOVÁ; Irena KRČMOVÁ; Miloš JESEŇÁK a Tomáš FREIBERGER. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. FRONTIERS IN GENETICS. LAUSANNE: FRONTIERS MEDIA SA, 2023, roč. 14, July 2023, s. 1-15. ISSN 1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2023.1123914.
    10. BALLONOVÁ, Lucie; Petra KULÍŠKOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ; Roman HAKL; Jiří LITZMAN; Přemysl SOUČEK a Tomáš FREIBERGER. PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages. Molecular Biology Reports. DORDRECHT: Springer, 2023, roč. 50, č. 6, s. 4975-4982. ISSN 0301-4851. Dostupné z: https://doi.org/10.1007/s11033-023-08391-8.
    11. KULÍŠKOVÁ, Petra; Lucie VAŠÁTKOVÁ a Iva SLANINOVÁ. Quaternary Benzophenanthridine Alkaloids Act as Smac Mimetics and Overcome Resistance to Apoptosis. International Journal of Molecular Sciences. BASEL: MDPI, 2023, roč. 24, č. 20, s. 1-16. ISSN 1661-6596. Dostupné z: https://doi.org/10.3390/ijms242015405.
    12. GUPTA, Sudhir; Roger H. KOBAYASHI; Jiří LITZMAN; Laurel CHERWIN; Sonja HOELLER a Huub KREUWEL. Subcutaneous immunoglobulin 16.5% for the treatment of pediatric patients with primary antibody immunodeficiency. EXPERT REVIEW OF CLINICAL IMMUNOLOGY. UNITED STATES: TAYLOR & FRANCIS LTD, 2023, roč. 19, č. 1, s. 7-17. ISSN 1744-666X. Dostupné z: https://doi.org/10.1080/1744666X.2023.2144836.
    13. GROMBIŘÍKOVÁ, Hana; Viktor BÍLY; Přemysl SOUČEK; Michal KRAMÁREK; Roman HAKL; Lucie BALLONOVÁ; Barbora RAVCUKOVA; Dita RICNA; Karolína KOŽENÁ; Lucie KRATOCHVÍLOVÁ; Marta SOBOTKOVA; Radana ZACHOVA; Pavel KUKLÍNEK; Pavlina KRALICKOVA; Irena KRCMOVA; Jana HANZLIKOVA; Martina VACHOVA; Olga KRYSTUFKOVA; Eva DANKOVA; Milos JESENAK; Martina NOVACKOVA; Michal SVOBODA; Jiří LITZMAN a Tomáš FREIBERGER. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. Journal of Clinical Immunology. NEW YORK: SPRINGER, 2023, roč. 43, č. 8, s. 1974-1991. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-023-01565-w.
    14. CUCHEL, Marina; Frederick J RAAL; Robert A HEGELE; Khalid AL-RASADI; Marcello ARCA; Maurizio AVERNA; Eric BRUCKERT; Tomáš FREIBERGER; Daniel GAUDET; Mariko HARADA-SHIBA; Lisa C HUDGINS; Meral KAYIKCIOGLU; Luis MASANA; Klaus G PARHOFER; Jeanine E ROETERS VAN LENNEP; Raul D SANTOS; Erik S G STROES; Gerald F WATTS; Albert WIEGMAN; Jane K STOCK; Lale S TOKGOEZOGLU; Alberico L CATAPANO a Kausik K RAY. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. European heart journal. Oxford: Oxford University Press, 2023, roč. 44, č. 25, s. 2277-2291. ISSN 0195-668X. Dostupné z: https://doi.org/10.1093/eurheartj/ehad197.

    2022

    1. PASTORCZAK, Agata; Andishe ATTARBASCHI; Simon BOMKEN; Arndt BORKHARDT; van der Werff ten Bosch JUTTE; Sarah ELITZUR; Andrew R GENNERY; Eva HLAVÁČKOVÁ; Arpád KEREKES; Zdenka KŘENOVÁ; Wojciech MLYNARSKI; Tomasz SZCZEPANSKI; Tessa WASSENBERG a Jan LOEFFEN. Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders. Cancers. Basel: MDPI, 2022, roč. 14, č. 8, s. 1-23. ISSN 2072-6694. Dostupné z: https://doi.org/10.3390/cancers14082000.
    2. KRAUSZ, Máté; Noriko MITSUIKI; Valeria FALCONE; Johanna KOMP; Sara POSADAS-CANTERA; Lorenz HANNS-MARTIN; Jiří LITZMAN; Daniel WOLFF; Maria KANARIOU; Anita HEINKELE; Carsten SPECKMANN; Georg HÄCKER; Hartmut HENGEL; Laura GÁMEZ-DÍAZ a Bodo GRIMBACHER. Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? Frontiers in immunology. LAUSANNE: FRONTIERS MEDIA SA, 2022, roč. 13, November 2022, s. 1-10. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2022.1011646.
    3. POLOCZKOVÁ, Hana; Jan KREJČÍ; Petr HUDE; Eva OZÁBALOVÁ; Július GODAVA; Tomáš HONEK; Víta ŽAMPACHOVÁ; Iva SVOBODOVÁ; Tomáš FREIBERGER a Lenka ŠPINAROVÁ. Effect of immunosuppressive therapy in inflammatory cardiomyopathy: data from The Czech Inflammatory Cardiomyopathy Immunosuppressive Trial. Bratislava Medical Journal - Bratislavské lekárske listy. BRATISLAVA: Univerzita Komenského, 2022, roč. 123, č. 1, s. 37-43. ISSN 0006-9248. Dostupné z: https://doi.org/10.4149/BLL_2022_006.
    4. KOBAYASHI, Roger H.; Jiří LITZMAN; Isaac MELAMED; J Fernando MANDUJANO; Ai Lan KOBAYASHI; Bruce RITCHIE; Bob GENG; T Prescott ATKINSON; Syed REHMAN; Sonja HOELLER; Eva TURPEL-KANTOR; Huub KREUWEL; J. C. SPEER a Sudhir GUPTA. Long-term efficacy, safety, and tolerability of a subcutaneous immunoglobulin 16.5% (cutaquig (R)) in the treatment of patients with primary immunodeficiencies. Clinical and Experimental Immunology. Hoboken: Wiley, 2022, roč. 210, č. 2, s. 91-103. ISSN 0009-9104. Dostupné z: https://doi.org/10.1093/cei/uxac092.
    5. KOBAYASHI, R. H.; Jiří LITZMAN; S. RIZVI; H. KREUWEL; S. HOELLER a S. GUPTA. Overview of subcutaneous immunoglobulin 16.5% in primary and secondary immunodeficiency diseases. IMMUNOTHERAPY. London: FUTURE MEDICINE LTD, 2022, roč. 14, č. 4, s. 259-270. ISSN 1750-743X. Dostupné z: https://doi.org/10.2217/imt-2021-0313.
    6. GIDDING, Samuel S.; Albert WIEGMAN; Urh GROSELJ; Tomáš FREIBERGER; Noel PERETTI; Kanika I DHARMAYAT; Magdalena DACCORD; Nicola BEDLINGTON; Jaka SIKONJA; Kausik K RAY; Raul D SANTOS; Martin HALLE; Lale TOKGOZOGLU; Inaki GUTIERREZ-IBARLUZEA; Fausto J PINTO a Marius GEANTA. Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations. EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. OXFORD: OXFORD UNIV PRESS, 2022, roč. 29, č. 18, s. 2301-2311. ISSN 2047-4873. Dostupné z: https://doi.org/10.1093/eurjpc/zwac200.
    7. HAKL, Roman; Pavel KUKLÍNEK; Marta SOBOTKOVA; Irena KRCMOVA; Pavlina KRALICKOVA; Martina VACHOVA; Jana HANZLIKOVA; Martina NOVACKOVA; Michal SVOBODA; Ingrid KOVÁČOVÁ a Jiří LITZMAN. Registry-based analysis of Icatibant and C1-inhibitor use in treatment of laryngeal attacks of hereditary angioedema. CLINICAL AND EXPERIMENTAL ALLERGY. HOBOKEN: WILEY, 2022, roč. 52, č. 8, s. 994-997. ISSN 0954-7894. Dostupné z: https://doi.org/10.1111/cea.14182.
    8. MILOTA, Tomas; Marta SOBOTKOVA; Jitka SMETANOVA; Marketa BLOOMFIELD; Jana VYDLAKOVA; Zita CHOVANCOVÁ; Jiří LITZMAN; Roman HAKL; Jiri NOVAK; Ivana MALKUSOVA; Jana HANZLIKOVA; Dalibor JILEK; Beata HUTYROVA; Vitezslav NOVAK; Irena KRCMOVA; Anna SEDIVA a Pavlina KRALICKOVA. Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity-Results From a Multicenter Nationwide Study. Frontiers in Immunology. Laussane: Frontiers, 2022, roč. 13, February 2022, s. 1-8. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2022.835770.
    9. CHORA, J. R.; M. A. IACOCCA; Lukas TICHÝ; H. WAND; C. L. KURTZ; H. ZIMMERMANN; A. LEON; M. WILLIAMS; C. L. HUMPHRIES; A. J. HOOPER; M. TRINDER; L. R. BRUNHAM; A. COSTA PEREIRA; C. E. JANNES; M. CHEN; J. CHONIS; J. WANG; S. KIM; T. JOHNSTON; Přemysl SOUČEK; Michal KRAMÁREK; S. E LEIGH.; A. CARRIÉ; E. J. SIJBRANDS; R. A HEGELE.; Tomáš FREIBERGER; J. W. KNOWLES a M. BOURBON. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics In Medicine. United States: Lippincott, Williams & Wilkins, 2022, roč. 24, č. 2, s. 293-306. ISSN 1098-3600. Dostupné z: https://doi.org/10.1016/j.gim.2021.09.012.
    10. EGG, D.; I. C. RUMP; N. MITSUIKI; J. ROJAS-RESTREPO; M. E. MACCARI; C. SCHWAB; A. GABRYSCH; K. WARNATZ; S. GOLDACKER; V. PATIÑO; D. WOLFF; S. OKADA; S. HAYAKAWA; Y. SHIKAMA; K. KANDA; K. IMAI; M. SOTOMATSU; M. KUWASHIMA; T. KAMIYA; T. MORIO; K. MATSUMOTO; T. MORI; Y. YOSHIMOTO; I. DYBEDAL; M. KANARIOU; Z. Y. KUCUK; H. CHAPDELAINE; L. PETRUZELKOVA; H. M. LORENZ; K. E. SULLIVAN; J. HEIMALL; M. MOUTSCHEN; Jiří LITZMAN; M. RECHER; M. H. ALBERT; F. HAUCK; S. SENEVIRATNE; J. PACHLOPNIK SCHMID; A. KOLIOS; G. UNGLIK; C. KLEMANN; S. SNAPPER; L. GIULINO-ROTH; Michael SVATON; C. D. PLATT; S. HAMBLETON; O. NETH; G. GOSSE; S. REINSCH; D. HOLZINGER; Y. J. KIM; S. BAKHTIAR; F. ATSCHEKZEI; R. SCHMIDT; G. SOGKAS; S. CHANDRAKASAN; W. RAE; B. DERFALVI; H. V. MARQUART; A. OZEN; A. KIYKIM; E. KARAKOC-AYDINER; P. KRÁLÍČKOVÁ; G. DE BREE; D. KIRITSI; M. G. SEIDEL; R. KOBBE; J. DANTZER; L. ALSINA; T. ARMANGUE; V. LOUGARIS; P. AGYEMAN; S. NYSTRÖM; D. BUCHBINDER; P. D. ARKWRIGHT a B. GRIMBACHER. Therapeutic options for CTLA-4 insufficiency. Journal of Allergy and Clinical Immunology. New York: Mosby-Elseiver, 2022, roč. 149, č. 2, s. 736-746. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2021.04.039.
    11. TROMP, Tycho R; Merel L. HARTGERS; G Kees HOVINGH; Antonio J. VALLEJO-VAZ; Kausik K. RAY; Handrean SORAN; Tomáš FREIBERGER; Stefano BERTOLINI; Mariko HARADA-SHIBA; Dirk J. BLOM; Frederick J. RAAL a Marina CUCHEL. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. New York: Elsevier Science Inc., 2022, roč. 399, č. 10326, s. 719-728. ISSN 0140-6736. Dostupné z: https://doi.org/10.1016/S0140-6736(21)02001-8.

    2021

    1. KYSELÁK, Ondřej; Vladimír SOŠKA; Jan KOVAR; Lukas TICHY; Hana GROMBIŘÍKOVÁ; Jaroslav A. HUBACEK a Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. Journal of Clinical Lipidology. New York: Elsevier, 2021, roč. 15, č. 3, s. 435-440. ISSN 1933-2874. Dostupné z: https://doi.org/10.1016/j.jacl.2021.04.006.
    2. SOBOTKOVA, Marta; Radana ZACHOVA; Roman HAKL; Pavel KUKLÍNEK; Pavlina KRALICKOVA; Irena KRCMOVA; Jana HANZLIKOVA; Martina VACHOVA a Jirina BARTUNKOVA. Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients. International archives of allergy and immunology. Basel: Karger, 2021, roč. 182, č. 7, s. 642-649. ISSN 1018-2438. Dostupné z: https://doi.org/10.1159/000512933.
    3. KOTÁSKOVÁ, Iva; Vít SYROVÁTKA; Hana OBRUČOVÁ; Petra VÍDEŇSKÁ; Barbora ZWINSOVÁ; Veronika HOLÁ; Eva BLAŠTÍKOVÁ; Filip RŮŽIČKA a Tomáš FREIBERGER. Actinotignum schaalii: Relation to Concomitants and Connection to Patients’ Conditions in Polymicrobial Biofilms of Urinary Tract Catheters and Urines. Microorganisms. Basel: MDPI, 2021, roč. 9, č. 3, s. 1-23. ISSN 2076-2607. Dostupné z: https://doi.org/10.3390/microorganisms9030669.
    4. FUTEMA, M.; U. RAMASWAMI; Lukas TICHY; M. P. BOGSRUD; K. B. HOLVEN; J. R. VAN LENNEP; A. WIEGMAN; OS DESCAMPS; A. DE LEENER; E. FASTRE; Michal VRABLIK; Tomáš FREIBERGER; H. ESTERBAUER; H. DIEPLINGER; S. GREBER-PLATZER; A. M. MEDEIROS; M. BOURBON; V. MOLLAKI; E. DROGARI a S. E. HUMPHRIES. 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. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2021, roč. 319, FEB 2021, s. 108-117. ISSN 0021-9150. Dostupné z: https://doi.org/10.1016/j.atherosclerosis.2021.01.008.
    5. DEL PINO-MOLINA, L.; E. LOPEZ-GRANADOS; Q. LECREVISSE; J. CANIZALES; M. PEREZ-ANDRES; E. BLANCO; M. WENTINK; C. BONROY; Jana NECHVÁTALOVÁ; Tomas MILOTA; A. K. KIENZLER; J. PHILIPPE; A. E. SOUSA; M. VAN DER BURG; Tomas KALINA; J. J. M. VAN DONGEN a A. ORFAO. Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, roč. 11, FEB 2021, s. 1-14. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2020.603972.
    6. HOENIGL, M.; J. SALMANTON-GARCIA; T. J. WALSH; M. NUCCI; C. F. NEOH; J. D. JENKS; M. LACKNER; R. SPRUTE; A. M. S. AL-HATMI; M. BASSETTI; F. CARLESSE; Tomáš FREIBERGER; P. KOEHLER; T. LEHRNBECHER; A. KUMAR; J. PRATTES; M. RICHARDSON; S. REVANKAR; M. A. SLAVIN; J. STEMLER; B. SPIESS; S. J. TAJ-ALDEEN; A. WARRIS; P. C. Y. WOO; J. A. H. YOUNG; K. ALBUS; D. ARENZ; V. ARSIC-ARSENIJEVIC; J. P. BOUCHARA; T. R. CHINNIAH; A. CHOWDHARY; G. S. DE HOOG; G. DIMOPOULOS; R. F. DUARTE; P. HAMAL; J. F. MEIS; S. MFINANGA; F. QUEIROZ-TELLES; T. F. PATTERSON; G. RAHAV; T. R. ROGERS; C. ROTSTEIN; R. WAHYUNINGSIH; D. SEIDEL a O. A. CORNELY. 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. Lancet Infectious Diseases. Oxford: Elsevier SCI LTD, 2021, roč. 21, č. 8, s. "E246"-"E257", 12 s. ISSN 1473-3099. Dostupné z: https://doi.org/10.1016/S1473-3099(20)30784-2.
    7. CHEN, S. C. A.; J. PERFECT; A. L. COLOMBO; O. A. CORNELY; A. H. GROLL; D. SEIDEL; K. ALBUS; J. N. DE ALMEDIA; G. GARCIA-EFFRON; N. GILROY; C. LASS-FLORL; L. OSTROSKY-ZEICHNER; L. PAGANO; T. PAPP; R. RAUTEMAA-RICHARDSON; J. SALMANTON-GARCIA; A. SPEC; J. STEINMANN; S. ARIKAN-AKDAGLI; D. E. ARENZ; R. SPRUTE; L. DURAN-GRAEFF; Tomáš FREIBERGER; C. GIRMENIA; M. HARRIS; S. S. KANJ; M. ROUDBARY; O. LORTHOLARY; J. MELETIADIS; E. SEGAL; F. F. TUON; N. WIEDERHOLD; T. BICANIC; J. CHANDER; Y. C. CHEN; P. R. HSUEH; M. IP; P. MUNOZ; I. SPRIET; E. TEMFACK; L. THOMPSON; A. M. TORTORANO; A. VELEGRAKI a N. P. GOVENDER. Global guideline for the diagnosis and management of rare yeast infections: an initiative of the ECMM in cooperation with ISHAM and ASM. Lancet Infectious Diseases. Oxford: Elsevier SCI LTD, 2021, roč. 21, č. 12, s. "E375"-"E386", 12 s. ISSN 1473-3099. Dostupné z: https://doi.org/10.1016/S1473-3099(21)00203-6.
    8. VALLEJO-VAZ, Antonio J.; Christophe A. T. STEVENS; Alexander R. M. LYONS; Kanika I. DHARMAYAT; Tomáš FREIBERGER; G Kees HOVINGH; Pedro MATA; Frederick J. RAAL; Raul D. SANTOS; Handrean SORAN; Gerald F. WATTS; Marianne ABIFADEL; Carlos A. AGUILAR-SALINAS; Khalid F. ALHABIB; Mutaz ALKHNIFSAWI; Wael ALMAHMEED; Fahad ALNOURI; Rodrigo ALONSO; Khalid AL-RASADI; Ahmad AL-SARRAF; Nasreen AL-SAYED; Francisco ARAUJO; Tester F. ASHAVAID; Maciej BANACH; Sophie BÉLIARD; Marianne BENN; Christoph J. BINDER; Martin P. BOGSRUD; Mafalda BOURBON; Krzysztof CHLEBUS; Pablo CORRAL; Kairat DAVLETOV; Olivier S. DESCAMPS; Ronen DURST; Marat EZHOV; Dan GAITA; Jacques GENEST; Urh GROSELJ; Mariko HARADA-SHIBA; Kirsten B HOLVEN; Meral KAYIKCIOGLU; Weerapan KHOVIDHUNKIT; Katarina LALIC; Gustavs LATKOVSKIS; Ulrich LAUFS; Evangelos LIBEROPOULOS; Marcos M. LIMA-MARTINEZ; Jie LIN; Vincent MAHER; David MARAIS; Winfried MÄRZ; Erkin MIRRAKHIMOV; André R. MISEREZ; Olena MITCHENKO; Hapizah NAWAWI; Børge G. NORDESTGAARD; Andrie G. PANAYIOTOU; György PARAGH; Zaneta PETRULIONIENE; Belma POJSKIC; Arman POSTADZHIYAN; Katarina RASLOVA; Ashraf REDA; Željko REINER; Fouzia SADIQ; Wilson Ehidiamen SADOH; Heribert SCHUNKERT; Aleksandr B. SHEK; Mario STOLL; Erik STROES; Ta-Chen SU; Tavintharan SUBRAMANIAM; Andrey V. SUSEKOV; Myra TILNEY; Brian TOMLINSON; Thanh Huong TRUONG; Alexandros D. TSELEPIS; Anne TYBJÆRG-HANSEN; Alejandra Vázquez CÁRDENAS; Margus VIIGIMAA; Luya WANG; Shizuya YAMASHITA; Lale TOKGOZOGLU; Alberico L. CATAPANO a Kausik K. RAY. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. New York: Elsevier Science Inc., 2021, roč. 398, č. 10312, s. 1713-1725. ISSN 0140-6736. Dostupné z: https://doi.org/10.1016/S0140-6736(21)01122-3.
    9. WOLSKA-KUSNIERZ, Beata; Agata PASTORCZAK; Wojciech FENDLER; Anna WAKULINSKA; Bozena DEMBOWSKA-BAGINSKA; Edyta HEROPOLITANSKA-PLISZKA; Barbara PIATOSA; Barbara PIETRUCHA; Krzysztof KALWAK; Marek USSOWICZ; Anna PIECZONKA; Katarzyna DRABKO; Monika LEJMAN; Sylwia KOLTAN; Jolanta GOZDZIK; Jan STYCZYNSKI; Alina FEDOROVA; Natalia MIAKOVA; Elena DERIPAPA; Larysa KOSTYUCHENKO; Zdenka KŘENOVÁ; Eva HLAVÁČKOVÁ; Andrew GENNERY; Karl-Walter SYKORA; Sujal GHOSH; Michael H ALBERT; Dmitry BALASHOV; Mary EAPEN; Peter SVEC; Markus G SEIDEL; Sara Sebnem KILIC; Agnieszka TOMASZEWSKA; Ewa WIESIK-SZEWCZYK; Alexandra KREINS; Johann GREIL; Jochen BUECHNER; Bendik LUND; Hanna GREGOREK; Krystyna CHRZANOWSKA a Wojciech MLYNARSKI. Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome. Clinical Cancer Research. Philadelphia: American Association for Cancer Research, 2021, roč. 27, č. 2, s. 575-584. ISSN 1078-0432. Dostupné z: https://doi.org/10.1158/1078-0432.CCR-20-2574.
    10. VYMAZAL, Ondřej; Kamila KÝROVÁ; Marco DE ZUANI; Marcela VLKOVÁ; Marcela HORTOVÁ KOHOUTKOVÁ a Jan FRIČ. Immunosuppression Affects Neutrophil Functions: Does Calcineurin-NFAT Signaling Matter? Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, roč. 12, November 2021, s. 1-9. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2021.770515.
    11. ŠTÍCHOVÁ, Julie; Jana NECHVÁTALOVÁ; Jiří LITZMAN a Marcela VLKOVÁ. Možnosti sledování subpopulací B lymfocytů v periferní krvi v rutinní imunologické laboratoři. Epidemiologie, mikrobiologie, imunologie. Praha: Mladá fronta a.s., 2021, roč. 70, č. 4, s. 264-280. ISSN 1210-7913.
    12. HUJOVÁ, Pavla; Přemysl SOUČEK; Lenka RADOVÁ; Michal KRAMAREK; Tatiana KOVÁČOVÁ a Tomáš FREIBERGER. Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites. Cellular and molecular life sciences. BASEL: SPRINGER BASEL AG, 2021, roč. 78, 21-22, s. 6979-6993. ISSN 1420-682X. Dostupné z: https://doi.org/10.1007/s00018-021-03943-2.
    13. ZURAW, B.; W. R. LUMRY; D. T. JOHNSTON; E. AYGOREN-PURSUN; A. BANERJI; J. A. BERNSTEIN; S. C. CHRISTIANSEN; J. S. JACOBS; K. V. SITZ; R. G. GOWER; R. GAGNON; H. J. WEDNER; T. KINACIYAN; Roman HAKL; Jana HANZLIKOVA; J. T. ANDERSON; D. L. MCNEIL; S. B. FRITZ; W. H. YANG; R. TACHDJIAN; P. J. BUSSE; T. J. CRAIG; H. H. LI; H. FARKAS; J. M. BEST; D. CLEMONS; M. CORNPROPST; S. M. DOBO; H. A. IOCCA; D. KARGL; E. NAGY; S. C. MURRAY; P. COLLIS; W. P. SHERIDAN; M. MAURER a M. A. RIEDL. Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: A randomized, double-blind, placebo-controlled phase 3 trial. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2021, roč. 148, č. 1, s. "164"-"172.e9", 18 s. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2020.10.015.
    14. BOSÁK, Juraj; Matej LEXA; Kristýna FIEDOROVÁ; Darshak Chandulal GADARA; Lenka MICENKOVÁ; Zdeněk SPÁČIL; Jiří LITZMAN; Tomáš FREIBERGER a David ŠMAJS. Patients With Common Variable Immunodeficiency (CVID) Show Higher Gut Bacterial Diversity and Levels of Low-Abundance Genes Than the Healthy Housemates. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, roč. 12, May 2021, s. 1-13. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2021.671239.
    15. PERICAS, J. M.; J. LLOPIS; E. ATHAN; M. HERNANDEZ-MENESES; M. M. HANNAN; D. R. MURDOCH; Z. KANAFANI; Tomáš FREIBERGER; J. STRAHILEVITZ; N. FERNANDEZ-HIDALGO; C. LAMAS; E. DURANTE-MANGONI; P. TATTEVIN; F. NACINOVICH; V. H. CHU a J. M. MIRO. Prospective Cohort Study of Infective Endocarditis in People Who Inject Drugs. Journal of the American College of Cardiology. New York: Elsevier Science INC, 2021, roč. 77, č. 5, s. 544-555. ISSN 0735-1097. Dostupné z: https://doi.org/10.1016/j.jacc.2020.11.062.
    16. VALERIEVA, A.; M. T. STAEVSKA; V. GRIVCHEVA-PANOVSKA; M. JESENAK; K. V. KOHALMI; K. HRUBISKOVA; A. ZANICHELLI; L. BELLIZZI; A. RELAN; Roman HAKL a H. FARKAS. Recombinant human C1 esterase inhibitor for hereditary angioedema attacks: A European registry. WORLD ALLERGY ORGANIZATION JOURNAL. AMSTERDAM: ELSEVIER, 2021, roč. 14, č. 4, s. 1-8. ISSN 1939-4551. Dostupné z: https://doi.org/10.1016/j.waojou.2021.100535.
    17. TICHA, Olga; Peter SLANINA; Lukas MOOS; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ a Isabelle BEKEREDJIAN-DING. TNFR2 expression is a hallmark of human memory B cells with suppressive function. EUROPEAN JOURNAL OF IMMUNOLOGY. HOBOKEN: WILEY, 2021, roč. 51, č. 5, s. 1195-1205. ISSN 0014-2980. Dostupné z: https://doi.org/10.1002/eji.202048988.

    2020

    1. RAMASWAMI, U.; M. FUTEMA; M. P. BOGSRUD; K. B. HOLVEN; J. R. VAN LENNEP; A. WIEGMAN; O. S. DESCAMPS; M. VRABLIK; Tomáš FREIBERGER; H. DIEPLINGER; S. GREBER-PLATZER; G. HANAUER-MADER; M. BOURBON; E. DROGARI a S. E. HUMPHRIES. Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2020, roč. 292, JAN 2020, s. 178-187. ISSN 0021-9150. Dostupné z: https://doi.org/10.1016/j.atherosclerosis.2019.11.012.
    2. POLÁŠKOVÁ, Kristýna; Tomáš MERTA; Alexandra MARTINČEKOVÁ; Danica ZAPLETALOVÁ; Michal KÝR; Pavel MAZÁNEK; Zdenka KŘENOVÁ; Peter MÚDRY; Marta JEŽOVÁ; Jiří TŮMA; Jarmila SKOTÁKOVÁ; Ivana ČERVINKOVÁ; Dalibor VALÍK; Lenka ZDRAŽILOVÁ DUBSKÁ; Hana NOSKOVÁ; Karol PÁL; Ondřej SLABÝ; Pavel FABIAN; Šárka KOZÁKOVÁ; Jakub NERADIL; Renata VESELSKÁ; Veronika KANDEROVÁ; Jiří ŠTARHA; Tomáš FREIBERGER; Giannoula Lakka KLEMENT a Jaroslav ŠTĚRBA. Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2020, roč. 9, FEB 2020, s. 1-9. ISSN 2234-943X. Dostupné z: https://doi.org/10.3389/fonc.2019.01531.
    3. HUJOVÁ, Pavla; Přemysl SOUČEK; Lucie GRODECKÁ; Hana GROMBIŘÍKOVÁ; Barbora RAVČUKOVÁ; Pavel KUKLÍNEK; Roman HAKL; Jiří LITZMAN a Tomáš FREIBERGER. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation. Journal of Clinical Immunology. New York: Springer, 2020, roč. 40, č. 3, s. 435-446. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-020-00753-2.
    4. KALINA, T.; M. BAKARDJIEVA; M. BLOM; M. PEREZ-ANDRES; B. BARENDREGT; V. KANDEROVA; C. BONROY; J. PHILIPPE; E. BLANCO; I. PICO-KNIJNENBURG; J. H. M. P. PAPING; B. WOLSKA-KUSNIERZ; M. PAC; J. TKAZCYK; F. HAERYNCK; H. H. AKAR; R. FORMANKOVA; Tomáš FREIBERGER; M. SVATORI; A. SEDIVA; S. ARRIBA-MENDEZ; A. ORFAO; J. J. M. VAN DONGEN a M. VAN DER BURG. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2020, roč. 11, MAR 2020, s. 1-14. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2020.00371.
    5. BRODSZKI, Nicholas; Ashley FRAZER-ABEL; Anete S. GRUMACH; Anete S. KIRSCHFINK; Jiří LITZMAN; Elena PEREZ; Mikko R. J. SEPPANEN; Kathleen E. SULLIVAN a Stephen JOLLES. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. Journal of Clinical Immunology. New York: Springer, 2020, roč. 40, č. 4, s. 576-591. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-020-00754-1.
    6. VRABLIK, Michal; Lukas TICHY; Tomáš FREIBERGER; Vladimir BLAHA; Martin SATNY a Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, roč. 11, OCT 2020, s. 1-10. ISSN 1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2020.574474.
    7. HASSE, B.; M. M. HANNAN; P. M. KELLER; F. P. MAURER; R. SOMMERSTEIN; D. MERTZ; D. WAGNER; N. FERNANDEZ-HIDALGO; J. NOMURA; V. MANFRIN; D. BETTEX; A. H. CONTE; E. DURANTE-MANGONI; T. H. C. TANG; R. L. STUART; J. LUNDGREN; S. GORDON; M. C. JARASHOW; P. W. SCHREIBER; S. NIEMANN; T. A. KOHL; C. L. DALEY; A. J. STEWARDSON; C. J. WHITENER; K. PERKINS; D. PLACHOURAS; T. LAMAGNI; M. CHAND; Tomáš FREIBERGER; S. ZWEIFEL; P. SANDER; B. SCHULTHESS; J. E. SCRIVEN; H. SAX; J. VAN INGEN; C. A. MESTRES; D. DIEKEMA; B. A. BROWN-ELLIOTT; R. J. WALLACE; L. M. BADDOUR; J. M. MIRO a B. HOEN. International Society of Cardiovascular Infectious Diseases Guidelines for the Diagnosis, Treatment and Prevention of Disseminated Mycobacterium chimaera Infection Following Cardiac Surgery with Cardiopulmonary Bypass. The journal of hospital infection. London: W.B. Saunders, 2020, roč. 104, č. 2, s. 214-235. ISSN 0195-6701. Dostupné z: https://doi.org/10.1016/j.jhin.2019.10.009.
    8. DUŠKOVÁ, Lucie; Lucie NOHELOVÁ; Tomáš LOJA; Jana FIALOVÁ; Petra ZAPLETALOVÁ; Kamila RÉBLOVÁ; Lukáš TICHÝ; Tomáš FREIBERGER a Lenka FAJKUSOVÁ. Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, roč. 11, JUN 2020, s. 1-10. ISSN 1664-8021. Dostupné z: https://doi.org/10.3389/fgene.2020.00691.
    9. PRUCHA, Miroslav; Hana GROMBIŘÍKOVÁ; Pavel ZDRAHAL; Marketa BLOOMFIELD; Zuzana PARACKOVA a Tomáš FREIBERGER. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. CASE REPORTS IN IMMUNOLOGY. LONDON: HINDAWI LTD, 2020, roč. 2020, DEC 2020, s. 1-5. ISSN 2090-6609. Dostupné z: https://doi.org/10.1155/2020/8836685.
    10. KOLČAVA, Jan; Jiří LITZMAN; Josef BEDNAŘÍK; Jakub STULÍK a Pavel ŠTOURAČ. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. MULTIPLE SCLEROSIS AND RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, roč. 45, October 2020, s. 1-4. ISSN 2211-0348. Dostupné z: https://doi.org/10.1016/j.msard.2020.102313.
    11. PARACKOVA, Zuzana; Tomas MILOTA; Petra VRABCOVA; Jitka SMETANOVA; Michael SVATON; Tomáš FREIBERGER; Veronika KANDEROVA a Anna SEDIVA. Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease. CELL DEATH & DISEASE. LONDON: NATURE PUBLISHING GROUP, 2020, roč. 11, č. 6, s. 1-11. ISSN 2041-4889. Dostupné z: https://doi.org/10.1038/s41419-020-2652-4.
    12. VALERIEVA, Anna; Maria STAEVSKA; Milos JESENAK; Katarina HRUBISKOVA; Marta SOBOTKOVA; Radana ZACHOVA; Roman HAKL; Sladjana ANDREJEVIC; Tobias SUITER; Vesna GRIVCHEVA-PANOVSKA; Ljerka KARADZA-LAPIC; Daniel SOTERES; Ralph SHAPIRO; Jeffrey RUMBYRT; Raffi TACHDJIAN; Vinay MEHTA; F. Ida HSU a Andrea ZANICHELLI. Recombinant human C1 esterase inhibitor as short-term prophylaxis in patients with hereditary angioedema. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2020, roč. 8, č. 2, s. 799-802. ISSN 2213-2198. Dostupné z: https://doi.org/10.1016/j.jaip.2019.08.011.
    13. WILEMON, K. A.; J. PATEL; C. AGUILAR-SALINAS; C. D. AHMED; M. ALKHNIFSAWI; W. ALMAHMEED; R. ALONSO; K. AL-RASADI; L. BADIMON; L. M. BERNAL; M. P. BOGSRUD; L. T. BRAUN; L. BRUNHAM; A. L. CATAPANO; K. CILLIKOVA; P. CORRAL; R. CUEVAS; J. C. DEFESCHE; O. S. DESCAMPS; S. DE FERRANTI; J. L. EISELE; G. ELIKIR; E. FOLCO; Tomáš FREIBERGER; F. FUGGETTA; I. M. GASPAR; A. G. GESZTES; U. GROSELJ; I. HAMILTON-CRAIG; G. HANAUER-MADER; M. HARADA-SHIBA; G. HASTINGS; G. K. HOVINGH; M. C. IZAR; A. JAMISON; G. N. KARLSSON; M. KAYIKCIOGLU; S. KOOB; M. KOSEKI; S. LANE; M. M. LIMA-MARTINEZ; G. LOPEZ; T. L. MARTINEZ; D. MARAIS; L. MARION; P. MATA; I. MAURINA; D. MAXWELL; R. MEHTA; G. A. MENSAH; A. R. MISEREZ; D. NEELY; S. J. NICHOLLS; A. NOHARA; B. G. NORDESTGAARD; L. OSE; A. PALLIDIS; J. PANG; J. PAYNE; A. L. PETERSON; M. P. POPESCU; R. PURI; K. K. RAY; A. REDA; T. SAMPIETRO; R. D. SANTOS; I. SCHALKERS; L. SCHREIER; M. D. SHAPIRO; E.. SIJBRANDS; D. SOFFER; C. STEFANUTTI; M. STOLL; R. G. SY; M. L. TAMAYO; M. K. TILNEY; L. TOKGOZOGLU; B. TOMLINSON; A. J. VALLEJO-VAZ; A. VAZQUEZ-CARDENAS; P. V. DE LUCA; D. S. WALD; G. F. WATTS; N. K. WENGER; M. WOLF; D. WOOD; A: ZEGERIUS; T. A. GAZIANO a S. S. GIDDING. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. JAMA Cardiology. Chicago: American Medical Association, 2020, roč. 5, č. 2, s. 217-229. ISSN 2380-6583. Dostupné z: https://doi.org/10.1001/jamacardio.2019.5173.
    14. SLEZÁKOVÁ, Simona; Petra BOŘILOVÁ LINHARTOVÁ; Jirina BARTOVA; Jitka PETANOVA; Pavel KUKLÍNEK; Antonín FASSMANN a Lydie IZAKOVIČOVÁ HOLLÁ. Serotonin transporter gene (SLC6A4) variability in patients with recurrent aphthous stomatitis. Archives of Oral Biology. Oxford: Pergamon-Elsevier, 2020, roč. 110, FEB 2020, s. 1-6. ISSN 0003-9969. Dostupné z: https://doi.org/10.1016/j.archoralbio.2019.104628.
    15. KOVÁČOVÁ, Tatiana; Přemysl SOUČEK; Pavla HUJOVÁ; Tomáš FREIBERGER a Lucie GRODECKÁ. Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2020, roč. 21, č. 18, s. 1-18. ISSN 1422-0067. Dostupné z: https://doi.org/10.3390/ijms21186553.
    16. SHARAPOVA, S. O.; M. SKOMSKA-PAWLISZAK; Y. A. RODINA; B. WOLSKA-KUSNIERZ; N. DABROWSKA-LEONIK; B. MIKOLUC; O. E. PASHCHENKO; S. PASIC; Tomáš FREIBERGER; T. MILOTA; R. FORMANKOVA; A. SZAFLARSKA; M. SIEDLAR; T. AVCIN; G. MARKELJ; P. CIZNAR; K. KALWAK; S. KOTTAN; T. JACKOWSKA; K. DRABKO; A. GAGRO; M. PAC; E. NAUMOVA; S. KANDILAROVA; K. BABOL-POKORA; D. S. VARABYOU; B. H. BARENDREGT; E. V. RAYKINA; T. V. VARLAMOVA; A. V. PAVLOVA; Hana GROMBIŘÍKOVÁ; M. DEBELJAK; I. V. MERSIYANOVA; A. V BONDARENKO; L. I. CHERNYSHOVA; L. V. KOSTYUCHENKO; M. N. GUSEVA; J. RASCON; A. MULEVICIENE; E. PREIKSAITIENE; C. B. GEIER; A. LEISS-PILLER; Y. YAMAZAKI; T. KAWAI; J. E. WALTER; I.V. KONDRATENKO; A. SEDIVA; M. VAN DER BURG; N. B. KUZMENKO; L. D. NOTARANGELO; E. BERNATOWSKA a O. V. ALEINIKOVA. The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2020, roč. 11, June 2020, s. 1-13. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2020.00900.

    2019

    1. FIEDOROVÁ, Kristýna; Matěj RADVANSKÝ; Juraj BOSÁK; Hana GROMBIŘÍKOVÁ; Eva NĚMCOVÁ; Pavlina KRÁLÍČKOVÁ; Michaela ČERNOCHOVÁ; Iva KOTÁSKOVÁ; Matej LEXA; Jiří LITZMAN; David ŠMAJS a Tomáš FREIBERGER. Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, roč. 10, č. 1914, s. 1-14. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2019.01914.
    2. KOTÁSKOVÁ, Iva; Hana OBRUČOVÁ; Veronika LÝČKOVÁ; Filip RŮŽIČKA a Tomáš FREIBERGER. Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex. Journal of Clinical Microbiology. Washington: American Society for Microbiology, 2019, roč. 57, č. 5, s. 1-3. ISSN 0095-1137. Dostupné z: https://doi.org/10.1128/JCM.00135-19.
    3. KOBAYASHI, Roger H.; Sudhir GUPTA; Isaac MELAMED; Fernando J. MANDUJANO; Ai Lan KOBAYASHI; Bruce RITCHIE; Bob GENG; Thomas Prescott ATKINSON; Syed REHMAN; Eva TURPEL-KANTOR a Jiří LITZMAN. Clinical Efficacy, Safety and Tolerability of a New Subcutaneous Immunoglobulin 16.5% (Octanorm [Cutaquig (R)]) in the Treatment of Patients With Primary Immunodeficiencies. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, roč. 10, č. 40, s. 1-12. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2019.00040.
    4. LITZMAN, Jiří; Zita CHOVANCOVÁ; Petr BEJDÁK; Marek LITZMAN; Zdeněk HEL a Marcela VLKOVÁ. Common variable immunodeficiency patients display elevated plasma levels of granulocyte activation markers elastase and myeloperoxidase. INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. THOUSAND OAKS: SAGE PUBLICATIONS INC, 2019, roč. 33, UNSP 2058738419843381, s. 1-10. ISSN 0394-6320. Dostupné z: https://doi.org/10.1177/2058738419843381.
    5. KRALICKOVA, Pavlina; Tomas MILOTA; Jiří LITZMAN; Ivana MALKUSOVA; Dalibor JILEK; Jitka PETANOVA; Jana VYDLAKOVA; Alena ZIMULOVA; Eva FRONKOVA; Michael SVATON; Veronika KANDEROVA; Marketa BLOOMFIELD; Zuzana PARACKOVA; Adam KLOCPERK; Jiri HAVIGER; Tomas KALINA a Anna SEDIVA. CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, roč. 9, č. 3135, s. 1-11. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2018.03135.
    6. MILOTA, Tomas; Marketa BLOOMFIELD; Pavlina KRALICKOVA; Dalibor JILEK; Vitezslav NOVAK; Jiří LITZMAN; Helena POSOVA; Lucie MRAZOVA; Jana POLONIOVA; Miroslav PRUCHA; Pavel ROZSIVAL; Vlasta RAUSCHOVA; Gunnar PHILIPP a Anna SEDIVA. Czech Hizentra Noninterventional Study With Rapid Push: Efficacy, Safety, Tolerability, and Convenience of Therapy With 20% Subcutaneous Immunoglobulin. Clinical Therapeutics. BRIDGEWATER: Elsevier, 2019, roč. 41, č. 11, s. 2231-2238. ISSN 0149-2918. Dostupné z: https://doi.org/10.1016/j.clinthera.2019.08.013.
    7. BLANCO, Elena; Martin PEREZ-ANDRES; Sonia ARRIBA-MENDEZ; Cristina SERRANO; Ignacio CRIADO; Lucia DEL PINO-MOLINA; Susana SILVA; Ignacio MADRUGA; Marina BAKARDJIEVA; Catarina MARTINS; Ana SERRA-CAETANO; Alfonso ROMERO; Teresa CONTRERAS-SANFELICIANO; Carolien BONROY; Francisco SALA; Alejandro MARTIN; Jose Maria BASTIDA; Felix LORENTE; Carlos PRIETO; Ignacio DAVILA; Miguel MARCOS; Tomas KALINA; Marcela VLKOVÁ; Zita CHOVANCOVÁ; Ana Isabel CORDEIRO; Jan PHILIPPE; Filomeen HAERYNCK; Eduardo LOPEZ-GRANADOS; Ana E. SOUSA; Mirjam VAN DER BURG; Jacques J. M. VAN DONGEN a Alberto ORFAO. Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2019, roč. 144, č. 3, s. 809-824. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2019.02.017.
    8. MIKEŠ, Ondřej; Markéta VRBOVÁ; Jana KLÁNOVÁ; Pavel ČUPR; Jan ŠVANCARA a Hynek PIKHART. Early-life exposure to household chemicals and wheezing in children. Science of the Total Environment. Amsterdam: Elsevier Science, 2019, roč. 663, May, s. 418-425. ISSN 0048-9697. Dostupné z: https://doi.org/10.1016/j.scitotenv.2019.01.254.
    9. DONGEN VAN, Jacques J. M.; Mirjam BURG VAN DER; Tomas KALINA; Martin PEREZ-ANDRES; Ester MEJSTRIKOVA; Marcela VLKOVÁ; Eduardo LOPEZ-GRANADOS; Marjolein WENTINK; Anne-Kathrin KIENZLER; Jan PHILIPPE; Ana E. SOUSA; Menno C. ZELM VAN; Elena BLANCO a Alberto ORFAO. EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, roč. 10, JUN 13 2019, s. 1-21. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2019.01271.
    10. OBRUCOVA, H.; Iva KOTÁSKOVÁ; R. TIHELKOVA; Veronika HOLÁ; Filip RŮŽIČKA a Tomáš FREIBERGER. Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth. Journal of Clinical Microbiology. Washington: American Society for Microbiology, 2019, roč. 57, č. 4, s. nestrankovano, 10 s. ISSN 0095-1137. Dostupné z: https://doi.org/10.1128/JCM.01861-18.
    11. LITZMAN, Jiří. Gastrointestinal Complications in Primary Immunoglobulin Deficiencies. In D'Elios, Mario Milco, Rizzi, Marta. Humoral Primary Immunodeficiencies. Basel: Springer, 2019, s. 361-378. Rare Diseases of the Immune System. ISBN 978-3-319-91784-9.
    12. SOUČEK, Přemysl; Kamila RÉBLOVÁ; Michal KRAMÁREK; Lenka RADOVÁ; Tereza GRYMOVÁ; Pavla HUJOVÁ; Tatiana KOVÁČOVÁ; Matej LEXA; Lucie GRODECKÁ a Tomáš FREIBERGER. High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing. RNA BIOLOGY. PHILADELPHIA: TAYLOR & FRANCIS INC, 2019, roč. 16, č. 10, s. 1364-1376. ISSN 1547-6286. Dostupné z: https://doi.org/10.1080/15476286.2019.1630796.
    13. MALIŠOVÁ, Barbora; Petr ŠANTAVÝ; Yvona LOVEČKOVÁ; Bořivoj HLADKÝ; Iva KOTÁSKOVÁ; Jiří POL; Vladimír LONSKÝ; Petr NĚMEC a Tomáš FREIBERGER. Human native endocarditis caused by Streptococcus canis-a case report. Journal of Pathology, Microbiology and Immunology, APMIS. Hoboken: Wiley, 2019, roč. 127, č. 1, s. 41-44. ISSN 0903-4641. Dostupné z: https://doi.org/10.1111/apm.12905.
    14. LI, J.; M. RITELLI; C. S. MA; G. RAO; T. HABIB; E. CORVILAIN; S. BOUGARN; S. CYPOWYJ; Lucie GRODECKÁ; R. LEVY; V. BEZIAT; L. SHANG; K. PAYNE; D. T. AVERY; M. MIGAUD; S. BOUCHERIT; S. BOUGHORBEL; A. GUENNOUN; M. CHRABIEH; F. RAPAPORT; B. BIGIO; Y. ITAN; B. BOISSON; V. CORMIER-DAIRE; D. SYX; F. MALFAIT; N. ZOPPI; L. ABEL; Tomáš FREIBERGER; H. C. DIETZ; N. MARR; S. G. TANGYE; M. COLOMBI; J. L. CASANOVA; A. PUEL a C. FIESCHI. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta. SCIENCE IMMUNOLOGY. WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE, 2019, roč. 4, č. 41, s. 1-13. ISSN 2470-9468. Dostupné z: https://doi.org/10.1126/sciimmunol.aax7965.
    15. SCHUTZ, Katharina; Diana ALECSANDRU; Bodo GRIMBACHER; Jamanda HADDOCK; Annemarie BRUINING; Gertjan DRIESSEN; Esther DE VRIES; Peter M. VAN HAGEN; Ieneke HARTMANN; Francesco FRAIOLI; Cinzia MILITO; Milica MITREVSKI; Isabella QUINTI; Goffredo SERRA; Peter KELLEHER; Michael LOEBINGER; Jiří LITZMAN; Věra POSTRÁNECKÁ; Vojtěch THON; Judith BABAR; Alison M. CONDLIFFE; Andrew EXLEY; Dinakantha KUMARARATNE; Nick SCREATON; Alison JONES; Maria P. BONDIONI; Vassilios LOUGARIS; Alessandro PLEBANI; Annarosa SORESINA; Cesare SIRIGNANO; Giuseppe SPADARO; Nermeen GALAL; Luis I. GONZALEZ-GRANADO; Sabine DETTMER; Robert STIRLING; Helen CHAPEL; Mary LUCAS; Smita PATEL; Claire-Michele FARBER; Isabelle MEYTS; Arpan K. BANERJEE; Scott HACKETT; John R. HURST; Klaus WARNATZ; Benjamin GATHMANN a Ulrich BAUMANN. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group. Journal of Clinical Immunology. New York: Springer, 2019, roč. 39, č. 1, s. 45-54. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-018-0577-9.
    16. HUJOVÁ, Pavla; Lucie GRODECKÁ; Přemysl SOUČEK a Tomáš FREIBERGER. Impact of acceptor splice site NAGTAG motif on exon recognition. MOLECULAR BIOLOGY REPORTS. DORDRECHT: Springer, 2019, roč. 46, č. 3, s. 2877-2884. ISSN 0301-4851. Dostupné z: https://doi.org/10.1007/s11033-019-04734-6.
    17. KANDEROVA, V.; H. GROMBIRIKOVA; I. ZENTSOVA; Kamila RÉBLOVÁ; A. KLOCPERK; M. FEJTKOVA; M. BLOOMFIELD; B. RAVCUKOVA; T. KALINA; Tomáš FREIBERGER a A. SEDIVA. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. Haematologica. PAVIA: FERRATA STORTI FOUNDATION, 2019, roč. 104, č. 1, s. "E32"-"E34", 3 s. ISSN 0390-6078. Dostupné z: https://doi.org/10.3324/haematol.2018.201673.
    18. KOTÁSKOVÁ, Iva; Hana OBRUČOVÁ; Barbora MALIŠOVÁ; Petra VÍDEŇSKÁ; Barbora ZWINSOVÁ; Tereza PEROUTKOVÁ; Milada DVOŘÁČKOVÁ; Petr KUMSTÁT; Pavel TROJAN; Filip RŮŽIČKA; Veronika HOLÁ a Tomáš FREIBERGER. Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples. Frontiers in Microbiology. Lausanne: Frontiers Media SA, 2019, roč. 10, č. 462, s. 1-15. ISSN 1664-302X. Dostupné z: https://doi.org/10.3389/fmicb.2019.00462.
    19. FINGERHUTOVÁ, Šárka; Jana FRÁŇOVÁ; Eva HLAVÁČKOVÁ; Eva JANČOVÁ; Leona PROCHÁZKOVÁ; Kamila BERÁNKOVÁ; Markéta TESAŘOVÁ; EEva HONSOVÁ a Pavla DOLEŽALOVÁ. Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease. Frontiers in Immunogy. Lausanne: Frontiers, 2019, roč. 10, APR 16 2019, s. 1-7. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2019.00802.
    20. VLKOVÁ, Marcela; Zita CHOVANCOVÁ; Jana NECHVÁTALOVÁ; Ashley Nicole CONNELLY; Marcus Darrell DAVIS; Peter SLANINA; Lucie KUČEROVÁ; Marek LITZMAN; Tereza GRYMOVÁ; Přemysl SOUČEK; Tomáš FREIBERGER; Jiří LITZMAN a Zdenek HEL. Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders. Journal of immunology. Bethesda: American association of immunologists, 2019, roč. 202, č. 1, s. 93-104. ISSN 0022-1767. Dostupné z: https://doi.org/10.4049/jimmunol.1800102.
    21. GRYMOVÁ, Tereza; Marcela VLKOVÁ; Přemysl SOUČEK; Roman HAKL; Jana NECHVÁTALOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Jiří LITZMAN a Tomáš FREIBERGER. Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period. Mediators of Inflammation. New York: Hindawi Publishing Corporation, 2019, roč. 2019, č. 9515628, s. 1-12. ISSN 0962-9351. Dostupné z: https://doi.org/10.1155/2019/9515628.
    22. FORMANKOVA, Renata; Veronika KANDEROVA; Marketa RACKOVA; Michael SVATON; Tomas BRDICKA; Petr RIHA; Petra KESLOVÁ; Ester MEJSTRIKOVA; Marketa ZALIOVA; Tomáš FREIBERGER; Hana GROMBIŘÍKOVÁ; Zuzana ZEMANOVA; Marcela VLKOVÁ; Filip FENCL; Ivana COPOVA; Jiri BRONSKY; Petr JABANDŽIEV; Petr SEDLACEK; Jana ŠOUKALOVÁ; Ondrej ZAPLETAL; Jan STARY; Jan TRKA; Tomas KALINA; Karolina KRAMARZOVA; Eva HLAVÁČKOVÁ; Jiří LITZMAN a Eva FRONKOVA. Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, roč. 10, SEP 18 2019, s. 1-8. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2019.02194.
    23. MOLDOVAN, Dumitru; Jonathan A. BERNSTEIN; Roman HAKL; Grzegorz POREBSKI; Kimberly POARCH; William R. LUMRY a Anurag RELAN. Safety of recombinant human C1 esterase inhibitor for hereditary angioedema attacks during pregnancy. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2019, roč. 7, č. 8, s. 2938-2940. ISSN 2213-2198. Dostupné z: https://doi.org/10.1016/j.jaip.2019.05.042.
    24. GRYMOVÁ, Tereza; Lucie GRODECKÁ; Přemysl SOUČEK a Tomáš FREIBERGER. SERPING1 exon 3 splicing variants using alternative acceptor splice sites. Molecular Immunology. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD, 2019, roč. 107, MAR 2019, s. 91-96. ISSN 0161-5890. Dostupné z: https://doi.org/10.1016/j.molimm.2019.01.007.
    25. FIEDOROVÁ, Kristýna; Matěj RADVANSKÝ; Eva NĚMCOVÁ; Hana GROMBIŘÍKOVÁ; Juraj BOSÁK; Michaela ČERNOCHOVÁ; Matej LEXA; David ŠMAJS a Tomáš FREIBERGER. The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery. Frontiers in Microbiology. Lausanne: Frontiers Media SA, 2019, roč. 10, č. 821, s. 1-11. ISSN 1664-302X. Dostupné z: https://doi.org/10.3389/fmicb.2019.00821.
    26. ČEŠKA, Richard; Gustavs LATKOVSKIS; Marat V. EZHOV; Tomáš FREIBERGER; Katarina LALIC; Olena MITCHENKO; Gyorgy PARAGH; Zaneta PETRULIONIENE; Belma POJSKIC; Katarina RASLOVA; Aleksandr B. SHEK; Branislav VOHNOUT; Tereza ALTSCHMIEDOVÁ a Veronika TODOROVOVÁ. The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project. CURRENT ATHEROSCLEROSIS REPORTS. PHILADELPHIA: CURRENT MEDICINE GROUP, 2019, roč. 21, č. 9, s. 1-12. ISSN 1523-3804. Dostupné z: https://doi.org/10.1007/s11883-019-0797-3.

    2018

    1. NECHVÁTALOVÁ, Jana; Sophinus J. W. BARTOL; Zita CHOVANCOVÁ; Louis BOON; Marcela VLKOVÁ a Menno C. van ZELM. Absence of Surface IgD Does Not Impair Naive B Cell Homeostasis or Memory B Cell Formation in IGHD Haploinsufficient Humans. Journal of immunology. Bethesda: American association of immunologists, 2018, roč. 201, č. 7, s. 1928-1935. ISSN 0022-1767. Dostupné z: https://doi.org/10.4049/jimmunol.1800767.
    2. SLEZÁKOVÁ, Simona; Petra BOŘILOVÁ LINHARTOVÁ; Lucie MASOPUSTOVÁ; Jiřina BÁRTOVÁ; Jitka PETANOVÁ; Pavel KUKLÍNEK; Antonín FASSMANN; Ladislav DUŠEK a Lydie IZAKOVIČOVÁ HOLLÁ. Association of the NOD-like receptor 3 (NLRP3) gene variability with recurrent aphthous stomatitis in the Czech population. Journal of Oral Pathology & Medicine. Hoboken: Wiley, 2018, roč. 47, č. 4, s. 434-439. ISSN 0904-2512. Dostupné z: https://doi.org/10.1111/jop.12694.
    3. SERWAS, N.K.; J. HUEMER; R. DIECKMANN; E. MEJSTRIKOVA; W. GARNCARZ; Jiří LITZMAN; B. HOEGER; O. ZAPLETAL; A. JANDA; K.L. BENNETT; R. KAIN; D. KERJASCHKY a K. BOZTUG. CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2018, roč. 9, MAR 29 2018, s. 1-15. ISSN 1664-3224. Dostupné z: https://doi.org/10.3389/fimmu.2018.00588.
    4. IACOCCA, M.A.; J.R. CHORA; A. CARRIE; Tomáš FREIBERGER; S.E. LEIGH; J.C. DEFESCHE; C.L. KURTZ; M.T. DISTEFANO; R.D. SANTOS; S.E. HUMPHRIES; P. MATA; C.E. JANNES; A.J. HOOPER; K.A. WILEMON; P. BENLIAN; R. O CONNOR; J. GARCIA; H. WAND; Lukáš TICHÝ; E.J. SIJBRANDS; R.A. HEGELE; M. BOURBON a J.W. KNOWLES. ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human Mutation. New York: Wiley-Liss, 2018, roč. 39, č. 11, s. 1631-1640. ISSN 1059-7794. Dostupné z: https://doi.org/10.1002/humu.23634.
    5. PONSFORD, Mark J.; Adam KLOCPERK; Federica PULVIRENTI; Virgil A. S. H. DALM; Tomas MILOTA; Francesco CINETTO; Zita CHOVANCOVÁ; Manuel J. RIAL; Anna SEDIVA; Jiří LITZMAN; Carlo AGOSTINI; Martin van HAGEN; Isabella QUINTI a Stephen JOLLES. Hyper-IgE in the allergy clinic-when is it primary immunodeficiency? Allergy. Hoboken: Wiley, 2018, roč. 73, č. 11, s. 2122-2136. ISSN 0105-4538. Dostupné z: https://doi.org/10.1111/all.13578.
    6. VESELÝ, Branislav; Michal DUFEK; Vojtěch THON; M. BROZMAN; S. KIRALOVA; T. HALASZOVA; Eva KORIŤÁKOVÁ a Ivan REKTOR. Interleukin 6 and complement serum level study in Parkinson's disease. Journal of Neural Transmission. WIEN: SPRINGER WIEN, 2018, roč. 125, č. 5, s. 875-881. ISSN 0300-9564. Dostupné z: https://doi.org/10.1007/s00702-018-1857-5.
    7. SCHWAB, Charlotte; Annemarie GABRYSCH; Peter OLBRICH; Virginia PATINO; Klaus WARNATZ; Daniel WOLFF; Akihiro HOSHINO; Masao KOBAYASHI; Kohsuke IMAI; Masatoshi TAKAGI; Ingunn DYBEDAL; Jamanda A. HADDOCK; David M. SANSOM; Jose M. LUCENA; Maximilian SEIDL; Annette SCHMITT-GRAEFF; Veronika REISER; Florian EMMERICH; Natalie FREDE; Alla BULASHEVSKA; Ulrich SALZER; Desiree SCHUBERT; Seiichi HAYAKAWA; Satoshi OKADA; Maria KANARIOU; Zeynep Yesim KUCUK; Hugo CHAPDELAINE; Lenka PETRUZELKOVA; Zdenek SUMNIK; Anna SEDIVA; Mary SLATTER; Peter D. ARKWRIGHT; Andrew CANT; Hanns-Martin LORENZ; Thomas GIESE; Vassilios LOUGARIS; Alessandro PLEBANI; Christina PRICE; Kathleen E. SULLIVAN; Michel MOUTSCHEN; Jiří LITZMAN; Tomáš FREIBERGER; Frank L. VAN DE VEERDONK; Mike RECHER; Michael H. ALBERT; Fabian HAUCK; Suranjith SENEVIRATNE; Jana Pachlopnik SCHMID; Antonios KOLIOS; Gary UNGLIK; Christian KLEMANN; Carsten SPECKMANN; Stephan EHL; Alan LEICHTNER; Richard BLUMBERG; Andre FRANKE; Scott SNAPPER; Sebastian ZEISSIG; Charlotte CUNNINGHAM-RUNDLES; Lisa GIULINO-ROTH; Oliver ELEMENTO; Gregor DUCKERS; Tim NIEHUES; Eva FRONKOVA; Veronika KANDEROVA; Craig D. PLATT; Janet CHOU; Talal A. CHATILA; Raif GEHA; Elizabeth MCDERMOTT; Su BUNN; Monika KURZAI; Ansgar SCHULZ; Laia ALSINA; Ferran CASALS; Angela DEYA-MARTINEZ; Sophie HAMBLETON; Hirokazu KANEGANE; Kjetil TASKEN; Olaf NETH a Bodo GRIMBACHER. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2018, roč. 142, č. 6, s. 1932-1946. ISSN 0091-6749. Dostupné z: https://doi.org/10.1016/j.jaci.2018.02.055.
    8. VRABLIK, Michal; Katarina RASLOVA; Branislav VOHNOUT; Vladimir BLAHA; Martin SATNY; Ondřej KYSELÁK; Martina VACLOVA; Robin URBANEK; Jana MASKOVA; Vladimír SOŠKA a Tomáš FREIBERGER. Real-life LDL-C treatment goals achievement in patients with heterozygous familial hypercholesterolemia in the Czech Republic and Slovakia: Results of the PLANET registry. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2018, roč. 277, OCT 2018, s. 355-361. ISSN 0021-9150. Dostupné z: https://doi.org/10.1016/j.atherosclerosis.2018.08.008.
    9. BOŘILOVÁ LINHARTOVÁ, Petra; Július JÁNOŠ; Simona SLEZÁKOVÁ; Jirina BARTOVA; Jitka PETANOVA; Pavel KUKLÍNEK; Antonín FASSMANN; Ladislav DUŠEK a Lydie IZAKOVIČOVÁ HOLLÁ. Recurrent aphthous stomatitis and gene variability in selected interleukins: a case-control study. EUROPEAN JOURNAL OF ORAL SCIENCES. HOBOKEN: WILEY-BLACKWELL, 2018, roč. 126, č. 6, s. 485-492. ISSN 0909-8836. Dostupné z: https://doi.org/10.1111/eos.12577.
    10. HAKL, Roman; Pavel KUKLÍNEK; Irena KRČMOVÁ; Pavlína KRÁLÍČKOVÁ; Tomáš FREIBERGER; Petr JANKŮ; Marcela VLKOVÁ a Jiří LITZMAN. Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy. Journal of Clinical Immunology. New York: Springer, 2018, roč. 38, č. 7, s. 810-815. ISSN 0271-9142. Dostupné z: https://doi.org/10.1007/s10875-018-0553-4.
    11. KRALÍČKOVÁ, P.; Š. KUBCOVÁ; E. KOČOVÁ; V. BARTOŠ; O. SOUČEK; P. ROZSÍVAL; H. VANÍČEK; I. KRČMOVÁ; B. RAVČUKOVÁ; H. GROMBIŘÍKOVÁ a Tomáš FREIBERGER. Úspěšná léčba rituximabem pro granulomatózně-lymfocytární intersticiální plicní nemoc provázející běžnou variabilní imunodeficienci. Čs. epidemiologie, mikrobiologie, imunologie. Praha: ČSL JEP, 2018, roč. 67, č. 3, s. 142-148. ISSN 1210-7913.
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