Downes SM - Search Results

1

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.

Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE. Xue K, et al. Among authors: downes sm. Nat Med. 2018 Oct;24(10):1507-1512. doi: 10.1038/s41591-018-0185-5. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297895 Free PMC article.

2

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1.

Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS. Payne AM, et al. Among authors: downes sm. Hum Mol Genet. 1998 Feb;7(2):273-7. doi: 10.1093/hmg/7.2.273. Hum Mol Genet. 1998. PMID: 9425234

3

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.

Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, Bird AC. Downes SM, et al. Arch Ophthalmol. 1999 Oct;117(10):1373-83. doi: 10.1001/archopht.117.10.1373. Arch Ophthalmol. 1999. PMID: 10532447

4

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Among authors: downes sm. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

5

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Downes SM, et al. Arch Ophthalmol. 2001 Jan;119(1):96-105. Arch Ophthalmol. 2001. PMID: 11146732

6

Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder.

Downes SM, Black GC, Hyman N, Simmonds M, Morris J, Barton C. Downes SM, et al. Arch Ophthalmol. 2001 Sep;119(9):1376-8. doi: 10.1001/archopht.119.9.1376. Arch Ophthalmol. 2001. PMID: 11545648 No abstract available.

7

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

8

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: downes sm. 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.

9

"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE. Robson AG, et al. Among authors: downes sm. Retina. 2010 Jan;30(1):51-62. doi: 10.1097/IAE.0b013e3181bfe24e. Retina. 2010. PMID: 19952985

10

Ranibizumab versus bevacizumab to treat neovascular age-related macular degeneration: one-year findings from the IVAN randomized trial.

IVAN Study Investigators; Chakravarthy U, Harding SP, Rogers CA, Downes SM, Lotery AJ, Wordsworth S, Reeves BC. IVAN Study Investigators, et al. Among authors: downes sm. Ophthalmology. 2012 Jul;119(7):1399-411. doi: 10.1016/j.ophtha.2012.04.015. Epub 2012 May 11. Ophthalmology. 2012. PMID: 22578446 Clinical Trial.

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