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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. Among authors: heckenlively j. 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.
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. Churchill JD, et al. Among authors: heckenlively jr. Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. Invest Ophthalmol Vis Sci. 2013. PMID: 23372056 Free PMC article.
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.
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.
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.
Birch DG, Bernstein PS, Iannacone A, Pennesi ME, Lam BL, Heckenlively J, Csaky K, Hartnett ME, Winthrop KL, Jayasundera T, Hughbanks-Wheaton DK, Warner J, Yang P, Fish GE, Teske MP, Sklaver NL, Erker L, Chegarnov E, Smith T, Wahle A, VanVeldhuisen PC, McCormack J, Lindblad R, Bramer S, Rose S, Zilliox P, Francis PJ, Weleber RG. Birch DG, et al. Among authors: heckenlively j. JAMA Ophthalmol. 2018 Aug 1;136(8):849-856. doi: 10.1001/jamaophthalmol.2018.1171. JAMA Ophthalmol. 2018. PMID: 29879277 Free PMC article. Clinical Trial.
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T, Branham KE, Othman M, Rhoades WR, Karoukis AJ, Khanna H, Swaroop A, Heckenlively JR. Jayasundera T, et al. Among authors: heckenlively jr. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. Arch Ophthalmol. 2010. PMID: 20625056 Free PMC article.
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.
267 results