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X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. Webb TR, et al. Among authors: mackey da. Am J Hum Genet. 2012 Feb 10;90(2):247-59. doi: 10.1016/j.ajhg.2011.12.019. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284829 Free PMC article.
Clinical progression of keratoconus following a Vth nerve palsy.
Ruddle JB, Mackey DA, Downie NA. Ruddle JB, et al. Among authors: mackey da. Clin Exp Ophthalmol. 2003 Aug;31(4):363-5. doi: 10.1046/j.1442-9071.2003.00673.x. Clin Exp Ophthalmol. 2003. PMID: 12880466 No abstract available.
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. Krafchak CM, et al. Among authors: mackey da. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14. Am J Hum Genet. 2005. PMID: 16252232 Free PMC article.
Genetic isolates in ophthalmic diseases.
Sherwin JC, Hewitt AW, Ruddle JB, Mackey DA. Sherwin JC, et al. Among authors: mackey da. Ophthalmic Genet. 2008 Dec;29(4):149-61. doi: 10.1080/13816810802334341. Ophthalmic Genet. 2008. PMID: 19005985 Review.
Null mutations in LTBP2 cause primary congenital glaucoma.
Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF. Ali M, et al. Among authors: mackey da. Am J Hum Genet. 2009 May;84(5):664-71. doi: 10.1016/j.ajhg.2009.03.017. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361779 Free PMC article.
538 results