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A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. Brands M, et al. Among authors: bergen a. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. Mol Genet Metab. 2024. PMID: 39522365 Free article. Review. No abstract available.
Abstracts from the 2022 European Association for Vision and Eye Research Festival, 13-15 October 2022, Valencia.
Wagstaff E, Bakker R, Emri E, Ten Asbroek A, Bergen A. Wagstaff E, et al. Among authors: bergen a. Acta Ophthalmol. 2022 Dec;100 Suppl 275. doi: 10.1111/j.1755-3768.2022.0616. Acta Ophthalmol. 2022. PMID: 36756988 Free article.
PURPOSE: Albinism refers to a group of genetic disorders typically characterized by a loss/reduction of melanin in the hair, skin and eyes of affected patients. ...Wagstaff, P. E., Ten Asbroek, A., Ten Brink, J. B., Jansonius, N. M. & Bergen, A
PURPOSE: Albinism refers to a group of genetic disorders typically characterized by a loss/reduction of melanin in the hair, s …
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Hensman J, Hahn LC, van Schooneveld MJ, Diederen RMH, Ten Brink JB, Florijn RJ, Bergen AA, Strubbe I, Heutinck P, van Genderen MM, van den Born LI, Thiadens AA, de Zaeytijd J, Leroy BP, Hoyng CB, Boon CJF. Hensman J, et al. Among authors: bergen aa. Ophthalmol Retina. 2024 Jun;8(6):600-606. doi: 10.1016/j.oret.2023.12.003. Epub 2023 Dec 15. Ophthalmol Retina. 2024. PMID: 38104928 Free article.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: bergen aa. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Evaluation of the implementation of personalised outcomes forecasts to optimise supervised exercise therapy in patients with intermittent claudication: a multimethods process evaluation.
Marcellis LHM, Sinnige A, van Bergen AGE, Spruijt S, Kittelson A, Teijink JAW, van der Wees PJ, Hoogeboom TJ. Marcellis LHM, et al. Among authors: van bergen age. BMJ Open Qual. 2025 Jan 19;14(1):e002920. doi: 10.1136/bmjoq-2024-002920. BMJ Open Qual. 2025. PMID: 39832834 Free PMC article.
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
527 results