Correspondence

Autor: Boon, C.J.F., Born, L.I. van den, Keunen, J.E.E., Bergen, A.A., Riemslag, F.C., Florijn, R.J., Schooneveld, M.J. van

Publikováno v: Retina-The Journal of Retinal and Vitreous Diseases, 35, e57-8

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::ecc55bb05eccc5c8e1d2a18b8bba7c2e
http://hdl.handle.net/2066/154884

Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.

Autor: Karuntu JS; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Nguyen XT; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Talib M; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., van Schooneveld MJ; Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands., Wijnholds J; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands., van Genderen MM; Bartiméus, Diagnostic Centre for complex visual disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands., Schalij-Delfos NE; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Klaver CCW; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Institute for Molecular and Clinical Ophthalmology, Basel, Switzerland., Meester-Smoor MA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., van den Born LI; Rotterdam Eye Hospital, Rotterdam, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., Bergen AA; Department of Clinical Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands., van Nispen RMA; Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands., Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2024 Jun; Vol. 102 (4), pp. 469-477. Date of Electronic Publication: 2023 Sep 25.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Autor: Hitti-Malin, Rebekkah J.¹ (AUTHOR) rebekkah.hitti-malin@radboudumc.nl, Panneman, Daan M.¹ (AUTHOR), Corradi, Zelia¹ (AUTHOR), Boonen, Erica G. M.¹ (AUTHOR), Astuti, Galuh¹ (AUTHOR), Dhaenens, Claire-Marie² (AUTHOR), Stöhr, Heidi³ (AUTHOR), Weber, Bernhard H. F.^3,4 (AUTHOR), Sharon, Dror⁵ (AUTHOR), Banin, Eyal⁵ (AUTHOR), Karali, Marianthi^6,7 (AUTHOR), Banfi, Sandro^6,7,8 (AUTHOR), Ben-Yosef, Tamar⁹ (AUTHOR), Glavač, Damjan^10,11 (AUTHOR), Farrar, G. Jane¹² (AUTHOR), Ayuso, Carmen^13,14 (AUTHOR), Liskova, Petra^15,16 (AUTHOR), Dudakova, Lubica¹⁵ (AUTHOR), Vajter, Marie^15,16 (AUTHOR), Ołdak, Monika¹⁷ (AUTHOR)

Publikováno v: Biomolecules (2218-273X). Mar2024, Vol. 14 Issue 3, p367. 20p.

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.

Autor: Tan, Wendy D.¹ (AUTHOR) jodom@hsc.wvu.edu, Odom, J. Vernon¹ (AUTHOR), Leys, Monique¹ (AUTHOR)

Publikováno v: Journal of Clinical Medicine. Nov2023, Vol. 12 Issue 22, p6960. 8p.

cGMP Signaling in Photoreceptor Degeneration.

Autor: Li, Shujuan¹ (AUTHOR) shujuan-li@ouhsc.edu, Ma, Hongwei¹ (AUTHOR), Yang, Fan¹ (AUTHOR), Ding, Xiqin¹ (AUTHOR) xi-qin-ding@ouhsc.edu

Publikováno v: International Journal of Molecular Sciences. Jul2023, Vol. 24 Issue 13, p11200. 19p.