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Page 1
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G… See abstract for full author list ➔ Quinodoz M, et al. Among authors: stefaniotou m. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
The large Hellenic Study of Uveitis: epidemiology, etiologic factors and classification.
Kalogeropoulos D, Asproudis I, Stefaniotou M, Moschos MM, Kozobolis VP, Voulgari PV, Katsanos A, Gartzonika C, Kalogeropoulos C. Kalogeropoulos D, et al. Among authors: stefaniotou m. Int Ophthalmol. 2023 Oct;43(10):3633-3650. doi: 10.1007/s10792-023-02772-5. Epub 2023 Jul 10. Int Ophthalmol. 2023. PMID: 37428299 Free PMC article.
Effect of silicone oil on retinal microcirculation after vitrectomy for rhegmatogenous retinal detachment evaluated by OCT angiography: a literature review.
Christou EE, Papaconstantinou D, Droutsas K, Stefaniotou M, Stavrakas P, Kandarakis S, Petrou P, Georgalas I. Christou EE, et al. Among authors: stefaniotou m. Ther Adv Ophthalmol. 2023 May 24;15:25158414231174145. doi: 10.1177/25158414231174145. eCollection 2023 Jan-Dec. Ther Adv Ophthalmol. 2023. PMID: 37255621 Free PMC article. Review.
The Large Hellenic Study of Uveitis: Diagnostic and Therapeutic Algorithms, Complications, and Final Outcome.
Kalogeropoulos D, Asproudis I, Stefaniotou M, Moschos MM, Kozobolis VP, Voulgari PV, Katsanos A, Gartzonika C, Kalogeropoulos C. Kalogeropoulos D, et al. Among authors: stefaniotou m. Asia Pac J Ophthalmol (Phila). 2023 Jan-Feb 01;12(1):44-57. doi: 10.1097/APO.0000000000000594. Epub 2023 Jan 2. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36588192 Free article.
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M, Yioti G, Stefaniotou M, Weener M, Zuleger T, Haack TB, Stingl K; Genomics England Research Consortium; Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. Jurkute N, et al. Among authors: stefaniotou m. NPJ Genom Med. 2022 Oct 20;7(1):60. doi: 10.1038/s41525-022-00330-z. NPJ Genom Med. 2022. PMID: 36266294 Free PMC article.
66 results