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Items: 18


Major review: Molecular genetics of primary open-angle glaucoma.

Liu Y, Allingham RR.

Exp Eye Res. 2017 Jul;160:62-84. doi: 10.1016/j.exer.2017.05.002. Epub 2017 May 10. Review.


Analysis of copy number variation at DMBT1 and age-related macular degeneration.

Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ.

BMC Med Genet. 2016 Jul 15;17(1):44. doi: 10.1186/s12881-016-0311-5.


Complement Factor H-Related Protein 3 Serum Levels Are Low Compared to Factor H and Mainly Determined by Gene Copy Number Variation in CFHR3.

Pouw RB, Brouwer MC, Geissler J, van Herpen LV, Zeerleder SS, Wuillemin WA, Wouters D, Kuijpers TW.

PLoS One. 2016 Mar 23;11(3):e0152164. doi: 10.1371/journal.pone.0152164. eCollection 2016.


Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, Ren H, Wang W, Zhang H, Chen N, Gharavi AG.

J Am Soc Nephrol. 2016 Oct;27(10):3187-3194. Epub 2016 Mar 3.


Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.

Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H.

J Am Soc Nephrol. 2015 May;26(5):1195-204. doi: 10.1681/ASN.2014010096. Epub 2014 Sep 9.


Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJ.

J Am Soc Nephrol. 2014 Jan;25(1):55-64. doi: 10.1681/ASN.2013050453. Epub 2013 Sep 12.


Complement alternative pathway genetic variation and Dengue infection in the Thai population.

Kraivong R, Vasanawathana S, Limpitikul W, Malasit P, Tangthawornchaikul N, Botto M, Screaton GR, Mongkolsapaya J, Pickering MC.

Clin Exp Immunol. 2013 Nov;174(2):326-34. doi: 10.1111/cei.12184.


Modelling the genetic risk in age-related macular degeneration.

Grassmann F, Fritsche LG, Keilhauer CN, Heid IM, Weber BH.

PLoS One. 2012;7(5):e37979. doi: 10.1371/journal.pone.0037979. Epub 2012 May 30.


Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics.

Gorin MB.

Mol Aspects Med. 2012 Aug;33(4):467-86. doi: 10.1016/j.mam.2012.04.004. Epub 2012 Apr 27. Review.


Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

Cantsilieris S, White SJ, Richardson AJ, Guymer RH, Baird PN.

PLoS One. 2012;7(4):e35255. doi: 10.1371/journal.pone.0035255. Epub 2012 Apr 25.


Copy number variation of age-related macular degeneration relevant genes in the Korean population.

Park JH, Lee S, Yu HG, Kim JI, Seo JS.

PLoS One. 2012;7(2):e31243. doi: 10.1371/journal.pone.0031243. Epub 2012 Feb 15.


Genetics of immunological and inflammatory components in age-related macular degeneration.

Tuo J, Grob S, Zhang K, Chan CC.

Ocul Immunol Inflamm. 2012 Feb;20(1):27-36. doi: 10.3109/09273948.2011.628432. Review.


Regulating complement in the kidney: insights from CFHR5 nephropathy.

Gale DP, Pickering MC.

Dis Model Mech. 2011 Nov;4(6):721-6. doi: 10.1242/dmm.008052. Review.


Copy number variation in the complement factor H-related genes and age-related macular degeneration.

Kubista KE, Tosakulwong N, Wu Y, Ryu E, Roeder JL, Hecker LA, Baratz KH, Brown WL, Edwards AO.

Mol Vis. 2011;17:2080-92. Epub 2011 Aug 6.


Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Khan AO, Aldahmesh MA, Alkuraya FS.

Mol Vis. 2011 Mar 11;17:708-14.


Copy number variations in candidate genes in neovascular age-related macular degeneration.

Liu MM, Agrón E, Chew E, Meyerle C, Ferris FL 3rd, Chan CC, Tuo J.

Invest Ophthalmol Vis Sci. 2011 May 16;52(6):3129-35. doi: 10.1167/iovs.10-6735.


Genetic control of the alternative pathway of complement in humans and age-related macular degeneration.

Hecker LA, Edwards AO, Ryu E, Tosakulwong N, Baratz KH, Brown WL, Charbel Issa P, Scholl HP, Pollok-Kopp B, Schmid-Kubista KE, Bailey KR, Oppermann M.

Hum Mol Genet. 2010 Jan 1;19(1):209-15. doi: 10.1093/hmg/ddp472.

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