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Items: 1 to 20 of 308

1.

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC.

Proc Natl Acad Sci U S A. 2019 Jan 8. pii: 201817639. doi: 10.1073/pnas.1817639116. [Epub ahead of print]

PMID:
30622176
2.

Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter.

Giacalone JC, Miller MJ, Workalemahu G, Reutzel AJ, Ochoa D, Whitmore SS, Stone EM, Tucker BA, Mullins RF.

Microvasc Res. 2018 Dec 18;123:50-57. doi: 10.1016/j.mvr.2018.12.002. [Epub ahead of print]

PMID:
30571950
3.

Correlation of Optical Coherence Tomography and Retinal Histology in Normal and Pro23His Retinal Degeneration Pig.

Cheng J, Sohn EH, Jiao C, Adler KL, Kaalberg EE, Russell SR, Mullins RF, Stone EM, Tucker BA, Han IC.

Transl Vis Sci Technol. 2018 Nov 30;7(6):18. doi: 10.1167/tvst.7.6.18. eCollection 2018 Nov.

4.

The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration.

Mullins RF, McGwin G Jr, Searcey K, Clark ME, Kennedy EL, Curcio CA, Stone EM, Owsley C.

Ophthalmology. 2018 Oct 31. pii: S0161-6420(18)32050-5. doi: 10.1016/j.ophtha.2018.10.037. [Epub ahead of print]

PMID:
30389424
5.

CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.

Bakall B, Bryan JS 3rd, Stone EM, Small KW.

Retin Cases Brief Rep. 2018 Oct 31. doi: 10.1097/ICB.0000000000000838. [Epub ahead of print]

PMID:
30383557
6.

EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.

Spaide RF, Yannuzzi L, Freund KB, Mullins R, Stone E.

Retina. 2019 Jan;39(1):12-26. doi: 10.1097/IAE.0000000000002362.

PMID:
30312263
7.

Imidazole Compounds for Protecting Choroidal Endothelial Cells from Complement Injury.

Zeng S, Wen KK, Workalemahu G, Sohn EH, Wu M, Chirco KR, Flamme-Wiese MJ, Liu X, Stone EM, Tucker BA, Mullins RF.

Sci Rep. 2018 Sep 6;8(1):13387. doi: 10.1038/s41598-018-31846-z.

8.

Effect of Molecular Weight and Functionality on Acrylated Poly(caprolactone) for Stereolithography and Biomedical Applications.

Green BJ, Worthington KS, Thompson JR, Bunn SJ, Rethwisch M, Kaalberg EE, Jiao C, Wiley LA, Mullins RF, Stone EM, Sohn EH, Tucker BA, Guymon CA.

Biomacromolecules. 2018 Sep 10;19(9):3682-3692. doi: 10.1021/acs.biomac.8b00784. Epub 2018 Aug 9.

PMID:
30044915
9.

Evaluation of serum and ocular levels of membrane attack complex and C-reactive protein in CFH-genotyped human donors.

Chirco KR, Flamme-Wiese MJ, Wiley JS, Potempa LA, Stone EM, Tucker BA, Mullins RF.

Eye (Lond). 2018 Nov;32(11):1740-1742. doi: 10.1038/s41433-018-0170-8. Epub 2018 Jul 16.

PMID:
30013157
10.

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Burnight ER, Giacalone JC, Cooke JA, Thompson JR, Bohrer LR, Chirco KR, Drack AV, Fingert JH, Worthington KS, Wiley LA, Mullins RF, Stone EM, Tucker BA.

Prog Retin Eye Res. 2018 Jul;65:28-49. doi: 10.1016/j.preteyeres.2018.03.003. Epub 2018 Mar 22. Review.

PMID:
29578069
11.

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.

Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.

PMID:
29559409
12.

CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells.

Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, Tucker BA.

Curr Protoc Stem Cell Biol. 2018 Feb 28;44:5B.7.1-5B.7.22. doi: 10.1002/cpsc.46.

PMID:
29512106
13.

Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC.

Med Res Arch. 2017 Sep;5(9). doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18.

14.

Assessment of Adeno-Associated Virus Serotype Tropism in Human Retinal Explants.

Wiley LA, Burnight ER, Kaalberg EE, Jiao C, Riker MJ, Halder JA, Luse MA, Han IC, Russell SR, Sohn EH, Stone EM, Tucker BA, Mullins RF.

Hum Gene Ther. 2018 Apr;29(4):424-436. doi: 10.1089/hum.2017.179. Epub 2018 Feb 23.

PMID:
29160116
15.

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

Song H, Rossi EA, Stone E, Latchney L, Williams D, Dubra A, Chung M.

Br J Ophthalmol. 2018 Jan;102(1):136-141. doi: 10.1136/bjophthalmol-2017-310498. Epub 2017 Oct 26.

16.

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

DeLuca AP, Alward WLM, Liebmann J, Ritch R, Kawase K, Kwon YH, Robin AL, Stone EM, Scheetz TE, Fingert JH.

J Glaucoma. 2017 Dec;26(12):1063-1067. doi: 10.1097/IJG.0000000000000792.

17.

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism.

Chirco KR, Lewis CJ, Scheetz TE, Johnston RM, Tucker BA, Stone EM, Fingert JH, Mullins RF.

Ophthalmic Genet. 2018 Jan-Feb;39(1):68-72. doi: 10.1080/13816810.2017.1369550. Epub 2017 Sep 26.

18.

Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy.

Wiley LA, Anfinson KR, Cranston CM, Kaalberg EE, Collins MM, Mullins RF, Stone EM, Tucker BA.

Curr Protoc Stem Cell Biol. 2017 Aug 14;42:4A.12.1-4A.12.14. doi: 10.1002/cpsc.30.

19.

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM.

Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14. Erratum in: Lancet. 2017 Aug 26;390(10097):848.

20.

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG.

Genes (Basel). 2017 Jul 12;8(7). pii: E178. doi: 10.3390/genes8070178.

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