Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 9

1.

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

Roosing S, Cremers FPM, Riemslag FCC, Zonneveld-Vrieling MN, Talsma HE, Klessens-Godfroy FJM, den Hollander AI, van den Born LI.

Genes (Basel). 2017 Aug 22;8(8). pii: E208. doi: 10.3390/genes8080208.

2.

Gene Expression Profiling of the Optic Nerve Head of Patients with Primary Open-Angle Glaucoma.

Wang X, Gong K, Li H, Wang C, Qu C, Li H.

J Ophthalmol. 2017;2017:6896390. doi: 10.1155/2017/6896390. Epub 2017 Apr 5.

3.

The cone dysfunction syndromes.

Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M.

Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13. Review.

4.

Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A.

Dis Model Mech. 2015 Feb;8(2):109-29. doi: 10.1242/dmm.017913. Review.

5.

Photoreceptor structure and function in patients with congenital achromatopsia.

Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.

Invest Ophthalmol Vis Sci. 2011 Sep 21;52(10):7298-308. doi: 10.1167/iovs.11-7762.

6.

Integrity of the cone photoreceptor mosaic in oligocone trichromacy.

Michaelides M, Rha J, Dees EW, Baraas RC, Wagner-Schuman ML, Mollon JD, Dubis AM, Andersen MK, Rosenberg T, Larsen M, Moore AT, Carroll J.

Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4757-64. doi: 10.1167/iovs.10-6659.

7.

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.

Mol Vis. 2010 Apr 29;16:774-81.

8.

Gene therapy rescues cone function in congenital achromatopsia.

Komáromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD.

Hum Mol Genet. 2010 Jul 1;19(13):2581-93. doi: 10.1093/hmg/ddq136. Epub 2010 Apr 8. Erratum in: Hum Mol Genet. 2011 Dec 15;20(24):5024.

9.

Naturally occurring animal models with outer retina phenotypes.

Baehr W, Frederick JM.

Vision Res. 2009 Nov;49(22):2636-52. doi: 10.1016/j.visres.2009.04.008. Epub 2009 Apr 16. Review.

Supplemental Content

Support Center