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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
Inherited eye disease: cause and late effect.
Manson FD, Trump D, Read AP, Black GC. Manson FD, et al. Among authors: black gc. Trends Mol Med. 2005 Oct;11(10):449-55. doi: 10.1016/j.molmed.2005.08.001. Epub 2005 Sep 8. Trends Mol Med. 2005. PMID: 16153893 Review.
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: black gc. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: black gc. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. Am J Hum Genet. 2009. PMID: 19853238 Free PMC article.
Childhood-onset autosomal recessive bestrophinopathy.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Borman AD, et al. Among authors: black gc. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. Arch Ophthalmol. 2011. PMID: 21825197 No abstract available.
255 results