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Page 1
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M. Khan K, et al. Among authors: booth a. Invest Ophthalmol Vis Sci. 2011 Jun 16;52(7):4294-9. doi: 10.1167/iovs.10-6776. Invest Ophthalmol Vis Sci. 2011. PMID: 21474777 Free PMC article.
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Ali M, Hocking PM, McKibbin M, Finnegan S, Shires M, Poulter JA, Prescott K, Booth A, Raashid Y, Jafri H, Ruddle JB, Mackey DA, Jacobson SG, Toomes C, Lester DH, Burt DW, Curry WJ, Inglehearn CF. Ali M, et al. Among authors: booth a. Invest Ophthalmol Vis Sci. 2011 Sep 27;52(10):7432-40. doi: 10.1167/iovs.11-7872. Invest Ophthalmol Vis Sci. 2011. PMID: 21862650
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: booth a. 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.
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Parry DA, et al. Among authors: booth ap. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409519 Free PMC article.
PAX 6 is normal in most cases of Peters' anomaly.
Churchill AJ, Booth AP, Anwar R, Markham AF. Churchill AJ, et al. Among authors: booth ap. Eye (Lond). 1998;12 ( Pt 2):299-303. doi: 10.1038/eye.1998.69. Eye (Lond). 1998. PMID: 9683959
The genetics of primary open angle glaucoma.
Booth A, Churchill A, Anwar R, Menage M, Markham A. Booth A, et al. Br J Ophthalmol. 1997 May;81(5):409-14. doi: 10.1136/bjo.81.5.409. Br J Ophthalmol. 1997. PMID: 9227209 Free PMC article. Review. No abstract available.
Foveal ectopia in X-linked retinoschisis.
McKibbin M, Booth AP, George ND. McKibbin M, et al. Among authors: booth ap. Retina. 2001;21(4):361-6. doi: 10.1097/00006982-200108000-00011. Retina. 2001. PMID: 11508883
1,208 results