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Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Among authors: van lith verhoeven jj. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15. Ophthalmology. 2010. PMID: 20079539
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. Among authors: van lith verhoeven jj. 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.
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB. Roosing S, et al. Among authors: van lith verhoeven jj. Ophthalmology. 2015 Jan;122(1):170-9. doi: 10.1016/j.ophtha.2014.07.040. Epub 2014 Sep 13. Ophthalmology. 2015. PMID: 25227500
Dominant cystoid macular dystrophy.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Among authors: van lith verhoeven jj. Ophthalmology. 2015 Jan;122(1):180-91. doi: 10.1016/j.ophtha.2014.07.053. Epub 2014 Sep 26. Ophthalmology. 2015. PMID: 25267528
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP. van Lith-Verhoeven JJ, et al. Invest Ophthalmol Vis Sci. 2004 Jan;45(1):30-5. doi: 10.1167/iovs.03-0392. Invest Ophthalmol Vis Sci. 2004. PMID: 14691150
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