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Hemoglobinopathies.
Indrák K, Divoká M, Pospíšilová D, Čermák J, Beličková M, Horváthová M, Divoký V. Indrák K, et al. Among authors: cermak j. Vnitr Lek. 2018 Summer;64(5):476-487. Vnitr Lek. 2018. PMID: 30193516 Review. English.
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R, Koralkova P, Holub D, Zidova Z, Pospisilova D, Cermak J, Striezencova Laluhova Z, Indrak K, Sukova M, Partschova M, Kucerova J, Horvathova M, Divoky V. Mojzikova R, et al. Among authors: cermak j. Br J Haematol. 2014 May;165(4):556-63. doi: 10.1111/bjh.12779. Epub 2014 Feb 18. Br J Haematol. 2014. PMID: 24533562 Free article.
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D. Volejnikova J, et al. Among authors: cermak j. Blood Cells Mol Dis. 2020 Mar;81:102380. doi: 10.1016/j.bcmd.2019.102380. Epub 2019 Nov 11. Blood Cells Mol Dis. 2020. PMID: 31855845
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M, Vesela J, Kundrat D, Votavova H, Dostalova Merkerova M, Krejcik Z, Divoky V, Jedlicka M, Fric J, Klema J, Mikulenkova D, Stastna Markova M, Lauermannova M, Mertova J, Soukupova Maaloufova J, Jonasova A, Cermak J, Belickova M. Kaisrlikova M, et al. Among authors: cermak j. Leukemia. 2022 Jul;36(7):1898-1906. doi: 10.1038/s41375-022-01584-3. Epub 2022 May 3. Leukemia. 2022. PMID: 35505182 Free PMC article.
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J, Horvathova M, Pospisilova D, Hajduch M. Kubickova A, et al. Among authors: cermak j. Blood Cells Mol Dis. 2022 Nov;97:102690. doi: 10.1016/j.bcmd.2022.102690. Epub 2022 Jul 6. Blood Cells Mol Dis. 2022. PMID: 35871033
355 results