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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: maka e. 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.
Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy.
Csorba A, Kormányos K, Csidey M, Náray A, Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Szabó D, Corton M, Tory K, Nagy ZZ, Langenbucher A, Maka E, Szentmáry N. Csorba A, et al. Among authors: maka e. Curr Eye Res. 2024 Jun;49(6):582-590. doi: 10.1080/02713683.2024.2320779. Epub 2024 Mar 5. Curr Eye Res. 2024. PMID: 38444179
Changes in tear protein pattern after photorefractive keratectomy.
Füst A, Veres A, Kiszel P, Nagy ZZ, Cervenak L, Csákány B, Maka E, Süveges I, Grus FH. Füst A, et al. Among authors: maka e. Eur J Ophthalmol. 2003 Jul;13(6):525-31. doi: 10.1177/112067210301300603. Eur J Ophthalmol. 2003. PMID: 12948309
RE: On a retinochoroidal coloboma.
Maka E, Knezy K. Maka E, et al. Can J Ophthalmol. 2012 Aug;47(4):385; author reply 385. doi: 10.1016/j.jcjo.2012.04.010. Epub 2012 May 30. Can J Ophthalmol. 2012. PMID: 22883851 No abstract available.
Clinicopathological Review of 547 Bulbar Enucleations in Hungary (2006-2017).
Tóth G, Szentmáry N, Sándor GL, Csákány B, Maka E, Tóth J, Antus Z, Pluzsik MT, Langenbucher A, Nagy ZZ, Lukáts O. Tóth G, et al. Among authors: maka e. J Ophthalmol. 2019 Feb 14;2019:2042459. doi: 10.1155/2019/2042459. eCollection 2019. J Ophthalmol. 2019. PMID: 30895157 Free PMC article.
37 results