Downes SM - Search Results

1

"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

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

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM. Payne AM, et al. Among authors: downes sm. J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611. J Med Genet. 2001. PMID: 11565546 Free PMC article. 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

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.

Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, Bamiou DE, Hardcastle AJ. Zito I, et al. Among authors: downes sm. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609. J Med Genet. 2003. PMID: 12920075 Free PMC article. No abstract available.

9

Understanding the impact of genetic testing for inherited retinal dystrophy.

Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. Combs R, et al. Among authors: downes sm. Eur J Hum Genet. 2013 Nov;21(11):1209-13. doi: 10.1038/ejhg.2013.19. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403902 Free PMC article.

10

Understanding the expectations of patients with inherited retinal dystrophies.

Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M. Combs R, et al. Among authors: downes sm. Br J Ophthalmol. 2013 Aug;97(8):1057-61. doi: 10.1136/bjophthalmol-2012-302911. Epub 2013 Jun 5. Br J Ophthalmol. 2013. PMID: 23740962

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