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The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: thiadens aahj. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Ophthalmology. 2009 Oct;116(10):1984-9.e1. doi: 10.1016/j.ophtha.2009.03.053. Epub 2009 Jul 9. Ophthalmology. 2009. PMID: 19592100
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. 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.
Clinical course of cone dystrophy caused by mutations in the RPGR gene.
Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Thiadens AA, et al. Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Graefes Arch Clin Exp Ophthalmol. 2011. PMID: 21866333 Free PMC article.
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887
Cone-rod dystrophy can be a manifestation of Danon disease.
Thiadens AA, Slingerland NW, Florijn RJ, Visser GH, Riemslag FC, Klaver CC. Thiadens AA, et al. Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):769-74. doi: 10.1007/s00417-011-1857-8. Graefes Arch Clin Exp Ophthalmol. 2012. PMID: 22290069 Free PMC article.
71 results