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A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19.
Nat Genet. 2013.
PMID: 23685748
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
Duvvari MR, Paun CC, Buitendijk GH, Saksens NT, Volokhina EB, Ristau T, Schoenmaker-Koller FE, van de Ven JP, Groenewoud JM, van den Heuvel LP, Hofman A, Fauser S, Uitterlinden AG, Klaver CC, Hoyng CB, de Jong EK, den Hollander AI.
Duvvari MR, et al. Among authors: paun cc.
PLoS One. 2014 Apr 15;9(4):e94165. doi: 10.1371/journal.pone.0094165. eCollection 2014.
PLoS One. 2014.
PMID: 24736606
Free PMC article.
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A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.
Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI.
Paun CC, et al.
Mol Vis. 2012;18:2447-53. Epub 2012 Oct 4.
Mol Vis. 2012.
PMID: 23077403
Free PMC article.
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High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP.
Collin RW, et al. Among authors: paun cc.
Invest Ophthalmol Vis Sci. 2011 Apr 6;52(5):2227-39. doi: 10.1167/iovs.10-6185.
Invest Ophthalmol Vis Sci. 2011.
PMID: 21217109
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Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration.
Lorés-Motta L, Paun CC, Corominas J, Pauper M, Geerlings MJ, Altay L, Schick T, Daha MR, Fauser S, Hoyng CB, den Hollander AI, de Jong EK.
Lorés-Motta L, et al. Among authors: paun cc.
Ophthalmology. 2018 Jul;125(7):1064-1074. doi: 10.1016/j.ophtha.2017.12.023. Epub 2018 Feb 2.
Ophthalmology. 2018.
PMID: 29398083
Free article.
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Systemic and ocular fluid compounds as potential biomarkers in age-related macular degeneration.
Kersten E, Paun CC, Schellevis RL, Hoyng CB, Delcourt C, Lengyel I, Peto T, Ueffing M, Klaver CCW, Dammeier S, den Hollander AI, de Jong EK.
Kersten E, et al. Among authors: paun cc.
Surv Ophthalmol. 2018 Jan-Feb;63(1):9-39. doi: 10.1016/j.survophthal.2017.05.003. Epub 2017 May 15.
Surv Ophthalmol. 2018.
PMID: 28522341
Free article.
Review.
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A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo.
Paun CC, Lechanteur YTE, Groenewoud JMM, Altay L, Schick T, Daha MR, Fauser S, Hoyng CB, den Hollander AI, de Jong EK.
Paun CC, et al.
Sci Rep. 2016 May 31;6:26568. doi: 10.1038/srep26568.
Sci Rep. 2016.
PMID: 27241480
Free PMC article.
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Genetic Variants and Systemic Complement Activation Levels Are Associated With Serum Lipoprotein Levels in Age-Related Macular Degeneration.
Paun CC, Ersoy L, Schick T, Groenewoud JM, Lechanteur YT, Fauser S, Hoyng CB, de Jong EK, den Hollander AI.
Paun CC, et al.
Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7766-73. doi: 10.1167/iovs.15-17035.
Invest Ophthalmol Vis Sci. 2015.
PMID: 26641553
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