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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 the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.
Csidey M, Csorba A, Kormányos K, Náray A, Kéki-Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Szabó D, Corton M, Tory K, Jávorszky E, Nagy ZZ, Maka E, Langenbucher A, Sperlich K, Stachs O, Winter K, Szentmáry N. Csidey M, et al. Among authors: maka e. Cornea. 2024 Dec 12. doi: 10.1097/ICO.0000000000003779. Online ahead of print. Cornea. 2024. PMID: 39670973
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.
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