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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
Scholl HP, Moore AT, Koenekoop RK, Wen Y, Fishman GA, van den Born LI, Bittner A, Bowles K, Fletcher EC, Collison FT, Dagnelie G, Degli Eposti S, Michaelides M, Saperstein DA, Schuchard RA, Barnes C, Zein W, Zobor D, Birch DG, Mendola JD, Zrenner E; RET IRD 01 Study Group. Scholl HP, et al. Among authors: van den born li. PLoS One. 2015 Dec 10;10(12):e0143846. doi: 10.1371/journal.pone.0143846. eCollection 2015. PLoS One. 2015. PMID: 26656277 Free PMC article. Clinical Trial.
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Van Den Broeck F, Brands MM, van Karnebeek CD, Bergen AA, van den Born LI, Houtkooper RH, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Boon CJF, Diederen RMH. Balfoort BM, et al. Among authors: van den born li. Graefes Arch Clin Exp Ophthalmol. 2024 Nov;262(11):3589-3596. doi: 10.1007/s00417-024-06540-8. Epub 2024 Jun 7. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38847892 Free PMC article.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: van den born li. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. den Hollander AI, et al. Among authors: van den born li. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610. Invest Ophthalmol Vis Sci. 2007. PMID: 18055821
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP. Collin RW, et al. Among authors: den hollander ai, van den born li. Am J Hum Genet. 2008 Nov;83(5):594-603. doi: 10.1016/j.ajhg.2008.10.014. Epub 2008 Oct 30. Am J Hum Genet. 2008. PMID: 18976725 Free PMC article.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: den hollander ai, van schooneveld mj, van lith verhoeven jj, van den born li, van moll ramirez n. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615668 Free PMC article.
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. Littink KW, et al. Among authors: den hollander ai, van den born li. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3. Invest Ophthalmol Vis Sci. 2010. PMID: 20130272
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ. Littink KW, et al. Among authors: den hollander ai, van den born li. Ophthalmology. 2010 Oct;117(10):2026-33, 2033.e1-7. doi: 10.1016/j.ophtha.2010.01.040. Ophthalmology. 2010. PMID: 20537394
139 results