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Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Gianferante MD, Wlodarski MW, Atsidaftos E, Da Costa L, Delaporta P, Farrar JE, Goldman FD, Hussain M, Kattamis A, Leblanc T, Lipton JM, Niemeyer CM, Pospisilova D, Quarello P, Ramenghi U, Sankaran VG, Vlachos A, Volejnikova J, Alter BP, Savage SA, Giri N. Gianferante MD, et al. Among authors: volejnikova j. Haematologica. 2021 May 1;106(5):1303-1310. doi: 10.3324/haematol.2020.246629. Haematologica. 2021. PMID: 32241839 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: volejnikova 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
Hepcidin in newly diagnosed inflammatory bowel disease in children.
Karaskova E, Volejnikova J, Holub D, Velganova-Veghova M, Sulovska L, Mihal V, Horvathova M, Pospisilova D. Karaskova E, et al. Among authors: volejnikova j. J Paediatr Child Health. 2018 Dec;54(12):1362-1367. doi: 10.1111/jpc.14093. Epub 2018 Jun 20. J Paediatr Child Health. 2018. PMID: 29923651
Minimal residual disease in peripheral blood at day 15 identifies a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with superior prognosis.
Volejnikova J, Mejstrikova E, Valova T, Reznickova L, Hodonska L, Mihal V, Sterba J, Jabali Y, Prochazkova D, Blazek B, Hak J, Cerna Z, Hrusak O, Stary J, Trka J, Fronkova E. Volejnikova J, et al. Haematologica. 2011 Dec;96(12):1815-21. doi: 10.3324/haematol.2011.042937. Epub 2011 Aug 31. Haematologica. 2011. PMID: 21880630 Free PMC article. Clinical Trial.
Prognosis of children with mixed phenotype acute leukemia treated on the basis of consistent immunophenotypic criteria.
Mejstrikova E, Volejnikova J, Fronkova E, Zdrahalova K, Kalina T, Sterba J, Jabali Y, Mihal V, Blazek B, Cerna Z, Prochazkova D, Hak J, Zemanova Z, Jarosova M, Oltova A, Sedlacek P, Schwarz J, Zuna J, Trka J, Stary J, Hrusak O. Mejstrikova E, et al. Among authors: volejnikova j. Haematologica. 2010 Jun;95(6):928-35. doi: 10.3324/haematol.2009.014506. Epub 2010 Feb 9. Haematologica. 2010. PMID: 20145275 Free PMC article.
25 results