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Zebrafish Models of Rare Hereditary Pediatric Diseases.
Varga M, Ralbovszki D, Balogh E, Hamar R, Keszthelyi M, Tory K. Varga M, et al. Among authors: balogh e. Diseases. 2018 May 22;6(2):43. doi: 10.3390/diseases6020043. Diseases. 2018. PMID: 29789451 Free PMC article. Review.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K. Stráner P, et al. Among authors: balogh e. Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29660491 Free article.
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Szabó T, et al. Among authors: balogh i, balogh e. Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. Pediatr Nephrol. 2018. PMID: 29956005
Changes of the "natural" antibody levels in relation to age and sex.
Joó-Szabados T, Németh C, Nemesánszky L, Horák T, Balogh E, Kardos M, Kovács M. Joó-Szabados T, et al. Among authors: balogh e. Boll Ist Sieroter Milan. 1974;53(2):369-76. Boll Ist Sieroter Milan. 1974. PMID: 4425575 No abstract available.
High phosphate and calcium induce osteoblastic phenotype switching and calcification of corneal epithelial cells in a Runx2-dependent and synergistic manner; a possible mechanism of chronic kidney disease-associated corneal calcification.
Ababneh H, Tóth A, Lente G, Balogh E, Csiki DM, Nagy B Jr, Szöőr Á, Jeney V. Ababneh H, et al. Among authors: balogh e. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167171. doi: 10.1016/j.bbadis.2024.167171. Epub 2024 Apr 16. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38631411 Free article.
328 results