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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility.
Abhary S, Burdon KP, Laurie KJ, Thorpe S, Landers J, Goold L, Lake S, Petrovsky N, Craig JE. Abhary S, et al. Among authors: burdon kp. Diabetes Care. 2010 Aug;33(8):1834-6. doi: 10.2337/dc09-1893. Epub 2010 Apr 27. Diabetes Care. 2010. PMID: 20424224 Free PMC article.
Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema.
Kaidonis G, Burdon KP, Gillies MC, Abhary S, Essex RW, Chang JH, Pal B, Pefkianaki M, Daniell M, Lake S, Petrovsky N, Hewitt AW, Jenkins A, Lamoureux EL, Gleadle JM, Craig JE. Kaidonis G, et al. Among authors: burdon kp. Ophthalmology. 2015 Sep;122(9):1828-36. doi: 10.1016/j.ophtha.2015.05.004. Epub 2015 Jun 11. Ophthalmology. 2015. PMID: 26072347 Free article.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, K… See abstract for full author list ➔ Fritsche LG, et al. Among authors: burdon kp. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.
Kaidonis G, Craig JE, Gillies MC, Abhary S, Essex RW, Chang JH, Pal B, Pefkianaki M, Daniell M, Lake S, Petrovsky N, Burdon KP. Kaidonis G, et al. Among authors: burdon kp. Diab Vasc Dis Res. 2016 Mar;13(2):164-7. doi: 10.1177/1479164115616902. Epub 2016 Jan 28. Diab Vasc Dis Res. 2016. PMID: 26821796 Free article.
A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients.
Kaidonis G, Gillies MC, Abhary S, Liu E, Essex RW, Chang JH, Pal B, Sivaprasad S, Pefkianaki M, Daniell M, Lake S, Petrovsky N, Hewitt AW, Jenkins A, Lamoureux EL, Gleadle JM, Craig JE, Burdon KP. Kaidonis G, et al. Among authors: burdon kp. Acta Diabetol. 2016 Aug;53(4):643-50. doi: 10.1007/s00592-016-0850-4. Epub 2016 Mar 21. Acta Diabetol. 2016. PMID: 26997512
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
Riaz M, Lorés-Motta L, Richardson AJ, Lu Y, Montgomery G, Omar A, Koenekoop RK, Chen J, Muether P, Altay L, Schick T, Fauser S, Smailhodzic D, van Asten F, de Jong EK, Hoyng CB, Burdon KP, MacGregor S, Guymer RH, den Hollander AI, Baird PN. Riaz M, et al. Among authors: burdon kp. Sci Rep. 2016 Nov 28;6:37924. doi: 10.1038/srep37924. Sci Rep. 2016. PMID: 27892514 Free PMC article.
219 results