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Items: 1 to 20 of 193

1.

Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain-Optical Coherence Tomography.

Hariri AH, Zhang HY, Ho A, Francis P, Weleber RG, Birch DG, Ferris FL 3rd, Sadda SR; Trial of Oral Valproic Acid for Retinitis Pigmentosa Group.

JAMA Ophthalmol. 2016 Mar 31. doi: 10.1001/jamaophthalmol.2016.0502. [Epub ahead of print]

PMID:
27031504
2.

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

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

Invest Ophthalmol Vis Sci. 2016 Feb 1;57(2):349-59. doi: 10.1167/iovs.15-16965.

PMID:
26842753
3.

Structure/Psychophysical Relationships in X-Linked Retinoschisis.

Bennett LD, Wang YZ, Klein M, Pennesi ME, Jayasundera T, Birch DG.

Invest Ophthalmol Vis Sci. 2016 Feb 1;57(2):332-7. doi: 10.1167/iovs.15-18354.

PMID:
26830370
4.

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

Strauss RW, Ho A, Muñoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S, Scholl HP; Progression of Stargardt Disease Study Group.

Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16.

PMID:
26786511
5.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B.

PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016.

6.

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).

Scholl HP, Moore AT, Koenekoop RK, Wen Y, Fishman GA, van den Born LI, Bittner A, Bowles K, Fletcher EC, Collison FT, Dagnelie G, Degli Eposti S, Michaelides M, Saperstein DA, Schuchard RA, Barnes C, Zein W, Zobor D, Birch DG, Mendola JD, Zrenner E; RET IRD 01 Study Group.

PLoS One. 2015 Dec 10;10(12):e0143846. doi: 10.1371/journal.pone.0143846. eCollection 2015.

7.

Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial.

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

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6646-53. doi: 10.1167/iovs.15-17786.

PMID:
26469750
8.

Outer Segment Thickness Predicts Visual Field Response to QLT091001 in Patients with RPE65 or LRAT Mutations.

Wen Y, Birch DG.

Transl Vis Sci Technol. 2015 Oct 1;4(5):8. eCollection 2015 Oct.

9.

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG.

Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26.

PMID:
26427411
10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

PMID:
25015354
17.

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.

18.

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.

19.

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.

20.

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.

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