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Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.
Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, Hauswirth WW, Heckenlively JR, Iannaccone A, Jayasundera KT, Khan NW, Molday RS, Pennesi ME, Reh TA, Weleber RG, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2015 Feb 9;56(2):918-31. doi: 10.1167/iovs.14-16049. Invest Ophthalmol Vis Sci. 2015. PMID: 25667399 Free PMC article. Review.
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.
Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: heckenlively jr. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
Sudden acquired retinal degeneration syndrome (SARDS) - a review and proposed strategies toward a better understanding of pathogenesis, early diagnosis, and therapy.
Komáromy AM, Abrams KL, Heckenlively JR, Lundy SK, Maggs DJ, Leeth CM, MohanKumar PS, Petersen-Jones SM, Serreze DV, van der Woerdt A. Komáromy AM, et al. Among authors: heckenlively jr. Vet Ophthalmol. 2016 Jul;19(4):319-31. doi: 10.1111/vop.12291. Epub 2015 Jun 20. Vet Ophthalmol. 2016. PMID: 26096588 Free article. Review.
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP. Sullivan LS, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341. Invest Ophthalmol Vis Sci. 2017. PMID: 28549094 Free PMC article.
Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months.
Pennesi ME, Birch DG, Jayasundera KT, Parker M, Tan O, Gurses-Ozden R, Reichley C, Beasley KN, Yang P, Weleber RG, Bennett LD, Heckenlively JR, Kothapalli K, Chulay JD, For The Xlrs-Study Group. Pennesi ME, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5941-5956. doi: 10.1167/iovs.18-24565. Invest Ophthalmol Vis Sci. 2018. PMID: 30551202 Free PMC article.
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M. Fahim AT, et al. Among authors: heckenlively jr. Br J Ophthalmol. 2019 Dec;103(12):1789-1796. doi: 10.1136/bjophthalmol-2018-313580. Epub 2019 Apr 12. Br J Ophthalmol. 2019. PMID: 30979730 Free PMC article.
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. Gerth-Kahlert C, et al. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597. Invest Ophthalmol Vis Sci. 2017. PMID: 28763557 Free article.
Molecular testing for hereditary retinal disease as part of clinical care.
Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Downs K, et al. Among authors: heckenlively jr. Arch Ophthalmol. 2007 Feb;125(2):252-8. doi: 10.1001/archopht.125.2.252. Arch Ophthalmol. 2007. PMID: 17296903
240 results