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Results: 1 to 20 of 184


Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity.

Jung CC, Atan D, Ng D, Ploder L, Ross SE, Klein M, Birch DG, Diez E, McInnes RR.

Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):E3010-9. doi: 10.1073/pnas.1505870112. Epub 2015 May 28.


Phase ii, randomized, placebo-controlled, 90-day study of emixustat hydrochloride in geographic atrophy associated with dry age-related macular degeneration.

Dugel PU, Novack RL, Csaky KG, Richmond PP, Birch DG, Kubota R.

Retina. 2015 Jun;35(6):1173-83. doi: 10.1097/IAE.0000000000000606.


Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP.

JAMA Ophthalmol. 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115.


Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Birch DG, Locke KG, Felius J, Klein M, Wheaton DK, Hoffman DR, Hood DC.

Ophthalmology. 2015 Apr;122(4):833-9. doi: 10.1016/j.ophtha.2014.11.005. Epub 2014 Dec 31.


A comparison of progressive loss of the ellipsoid zone (EZ) band in autosomal dominant and x-linked retinitis pigmentosa.

Cai CX, Locke KG, Ramachandran R, Birch DG, Hood DC.

Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7417-22. doi: 10.1167/iovs.14-15013.


A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP.

Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419.


Safety assessment of docosahexaenoic acid in X-linked retinitis pigmentosa: the 4-year DHAX trial.

Hughbanks-Wheaton DK, Birch DG, Fish GE, Spencer R, Pearson NS, Takacs A, Hoffman DR.

Invest Ophthalmol Vis Sci. 2014 Jul 11;55(8):4958-66. doi: 10.1167/iovs.14-14437.


Four-year placebo-controlled trial of docosahexaenoic acid in X-linked retinitis pigmentosa (DHAX trial): a randomized clinical trial.

Hoffman DR, Hughbanks-Wheaton DK, Pearson NS, Fish GE, Spencer R, Takacs A, Klein M, Locke KG, Birch DG.

JAMA Ophthalmol. 2014 Jul;132(7):866-73. doi: 10.1001/jamaophthalmol.2014.1634.


A Comparison of Methods for Tracking Progression in X-Linked Retinitis Pigmentosa Using Frequency Domain OCT.

Ramachandran R, Zhou L, Locke KG, Birch DG, Hood DC.

Transl Vis Sci Technol. 2013 Nov;2(7):5. Epub 2013 Nov 11.


Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP.

Mol Vis. 2013 Nov 24;19:2407-17. eCollection 2013.


Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R.

Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.


Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

Birch DG, Locke KG, Wen Y, Locke KI, Hoffman DR, Hood DC.

JAMA Ophthalmol. 2013 Sep;131(9):1143-50. doi: 10.1001/jamaophthalmol.2013.4160.


Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa.

Birch DG, Weleber RG, Duncan JL, Jaffe GJ, Tao W; Ciliary Neurotrophic Factor Retinitis Pigmentosa Study Groups.

Am J Ophthalmol. 2013 Aug;156(2):283-292.e1. doi: 10.1016/j.ajo.2013.03.021. Epub 2013 May 10.


Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.


Characterizing the phenotype and genotype of a family with occult macular dystrophy.

Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF.

Arch Ophthalmol. 2012 Dec;130(12):1554-9. doi: 10.1001/archophthalmol.2012.2683. Erratum in: Arch Ophthalmol. 2013 Feb;131(2):225.


Normative reference ranges for the retinal nerve fiber layer, macula, and retinal layer thicknesses in children.

Yanni SE, Wang J, Cheng CS, Locke KI, Wen Y, Birch DG, Birch EE.

Am J Ophthalmol. 2013 Feb;155(2):354-360.e1. doi: 10.1016/j.ajo.2012.08.010. Epub 2012 Nov 3.


Loss of caveolin-1 impairs retinal function due to disturbance of subretinal microenvironment.

Li X, McClellan ME, Tanito M, Garteiser P, Towner R, Bissig D, Berkowitz BA, Fliesler SJ, Woodruff ML, Fain GL, Birch DG, Khan MS, Ash JD, Elliott MH.

J Biol Chem. 2012 May 11;287(20):16424-34. doi: 10.1074/jbc.M112.353763. Epub 2012 Mar 26.


GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG.

Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006.


Relationships among multifocal electroretinogram amplitude, visual field sensitivity, and SD-OCT receptor layer thicknesses in patients with retinitis pigmentosa.

Wen Y, Klein M, Hood DC, Birch DG.

Invest Ophthalmol Vis Sci. 2012 Feb 21;53(2):833-40. doi: 10.1167/iovs.11-8410. Print 2012 Feb.


Rod photoreceptor temporal properties in retinal degenerative diseases.

Wen Y, Locke KG, Hood DC, Birch DG.

Adv Exp Med Biol. 2012;723:495-502. doi: 10.1007/978-1-4614-0631-0_62. No abstract available.

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