Verbakel SK - Search Results

1

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Olivier G, et al. Among authors: verbakel sk. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. J Med Genet. 2021. PMID: 32817297

2

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.

de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S. de Bruijn SE, et al. Among authors: verbakel sk. J Med Genet. 2018 Oct;55(10):705-712. doi: 10.1136/jmedgenet-2018-105364. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120214

3

Non-syndromic retinitis pigmentosa.

Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ. Verbakel SK, et al. Prog Retin Eye Res. 2018 Sep;66:157-186. doi: 10.1016/j.preteyeres.2018.03.005. Epub 2018 Mar 27. Prog Retin Eye Res. 2018. PMID: 29597005 Free article. Review.

4

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S. Verbakel SK, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e660. doi: 10.1002/mgg3.660. Epub 2019 Apr 4. Mol Genet Genomic Med. 2019. PMID: 30950243 Free PMC article.

5

Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration.

Saksens NT, Lechanteur YT, Verbakel SK, Groenewoud JM, Daha MR, Schick T, Fauser S, Boon CJ, Hoyng CB, den Hollander AI. Saksens NT, et al. Among authors: verbakel sk. PLoS One. 2016 Jun 3;11(6):e0144367. doi: 10.1371/journal.pone.0144367. eCollection 2016. PLoS One. 2016. PMID: 27258093 Free PMC article.

6

Carbonic Anhydrase Inhibitors for the Treatment of Cystic Macular Lesions in Children With X-Linked Juvenile Retinoschisis.

Verbakel SK, van de Ven JP, Le Blanc LM, Groenewoud JM, de Jong EK, Klevering BJ, Hoyng CB. Verbakel SK, et al. Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5143-5147. doi: 10.1167/iovs.16-20078. Invest Ophthalmol Vis Sci. 2016. PMID: 27699410

7

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM. Verbakel SK, et al. Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. Invest Ophthalmol Vis Sci. 2019. PMID: 30913292

8

Allogeneic and autologous serum eye drops: a pilot double-blind randomized crossover trial.

van der Meer PF, Verbakel SK, Honohan Á, Lorinser J, Thurlings RM, Jacobs JFM, de Korte D, Eggink CA. van der Meer PF, et al. Among authors: verbakel sk. Acta Ophthalmol. 2021 Dec;99(8):837-842. doi: 10.1111/aos.14788. Epub 2021 Feb 15. Acta Ophthalmol. 2021. PMID: 33590715 Free PMC article. Clinical Trial.

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