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Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, Laurie KJ, Muszynska D, Lindsay R, Lechner J, Haritunians T, Henders AK, Dash D, Siscovick D, Anand S, Aldave A, Coster DJ, Szczotka-Flynn L, Mills RA, Iyengar SK, Taylor KD, Phillips T, Montgomery GW, Rotter JI, Hewitt AW, Sharma S, Rabinowitz YS, Willoughby C, Craig JE. Burdon KP, et al. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8514-9. doi: 10.1167/iovs.11-8261. Invest Ophthalmol Vis Sci. 2011. PMID: 22003120 Free PMC article.
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE. Lechner J, et al. Among authors: willoughby ce. Invest Ophthalmol Vis Sci. 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035. Invest Ophthalmol Vis Sci. 2013. PMID: 23833072 Free article.
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Among authors: willoughby ce. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P, Simpson DA, Sambare C, Duffy S, Lechner J, Dastane A, Dervan EW, Vallabh N, Chelerkar V, Deshpande M, O'Brien C, McKnight AJ, Willoughby CE. Sundaresan P, et al. Among authors: willoughby ce. Genet Med. 2015 Apr;17(4):279-84. doi: 10.1038/gim.2014.121. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232845 Free article.
Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.
Napier ML, Durga D, Wolsley CJ, Chamney S, Alexander S, Brennan R, Simpson DA, Silvestri G, Willoughby CE. Napier ML, et al. Among authors: willoughby ce. Ophthalmic Genet. 2015;36(3):239-43. doi: 10.3109/13816810.2014.958862. Ophthalmic Genet. 2015. PMID: 25265376
140 results