Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

173 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: downes sm. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free 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: 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.
Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.
Lotery AJ, Gibson J, Cree AJ, Downes SM, Harding SP, Rogers CA, Reeves BC, Ennis S, Chakravarthy U; Alternative Treatments to Inhibit VEGF in Patients with Age-Related Choroidal Neovascularisation (IVAN) Study Group. Lotery AJ, et al. Among authors: downes sm. Ophthalmology. 2013 Dec;120(12):2637-2643. doi: 10.1016/j.ophtha.2013.07.046. Epub 2013 Sep 23. Ophthalmology. 2013. PMID: 24070809 Clinical Trial.
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. MacLaren RE, et al. Among authors: downes sm. Lancet. 2014 Mar 29;383(9923):1129-37. doi: 10.1016/S0140-6736(13)62117-0. Epub 2014 Jan 16. Lancet. 2014. PMID: 24439297 Free PMC article. Clinical Trial.
Cost-effectiveness of ranibizumab and bevacizumab for age-related macular degeneration: 2-year findings from the IVAN randomised trial.
Dakin HA, Wordsworth S, Rogers CA, Abangma G, Raftery J, Harding SP, Lotery AJ, Downes SM, Chakravarthy U, Reeves BC; IVAN Study Investigators. Dakin HA, et al. Among authors: downes sm. BMJ Open. 2014 Jul 29;4(7):e005094. doi: 10.1136/bmjopen-2014-005094. BMJ Open. 2014. PMID: 25079928 Free PMC article. Clinical Trial.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
173 results