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Page 1
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. Among authors: tulassay t. 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.
Autonomic dysfunction in uremia assessed by heart rate variability.
Tory K, Süveges Z, Horváth E, Bokor E, Sallay P, Berta K, Szabó A, Tulassay T, Reusz GS. Tory K, et al. Among authors: tulassay t. Pediatr Nephrol. 2003 Nov;18(11):1167-71. doi: 10.1007/s00467-003-1280-4. Epub 2003 Sep 17. Pediatr Nephrol. 2003. PMID: 13680330
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K. Kerti A, et al. Among authors: tulassay t. Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14. Pediatr Nephrol. 2013. PMID: 23242530
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome.
Szilágyi A, Kiss N, Bereczki C, Tálosi G, Rácz K, Túri S, Györke Z, Simon E, Horváth E, Kelen K, Reusz GS, Szabó AJ, Tulassay T, Prohászka Z. Szilágyi A, et al. Among authors: tulassay t. Nephrol Dial Transplant. 2013 Sep;28(9):2237-45. doi: 10.1093/ndt/gft198. Epub 2013 Jun 19. Nephrol Dial Transplant. 2013. PMID: 23787556
262 results