O'Neil EC - Search Results

1

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS. Bulas S, et al. Among authors: o neil ec. J Neuroophthalmol. 2023 Mar 1;43(1):110-115. doi: 10.1097/WNO.0000000000001678. Epub 2022 Aug 2. J Neuroophthalmol. 2023. PMID: 35921603

2

Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.

O'Neil E, Serrano L, Scoles D, Cunningham KE, Han G, Chiang J, Bennett J, Aleman TS. O'Neil E, et al. Ophthalmic Genet. 2019 Jun;40(3):267-275. doi: 10.1080/13816810.2019.1605392. Epub 2019 May 28. Ophthalmic Genet. 2019. PMID: 31135245

3

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.

Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW. Aleman TS, et al. Ophthalmic Genet. 2021 Jun;42(3):252-265. doi: 10.1080/13816810.2021.1888132. Epub 2021 Mar 17. Ophthalmic Genet. 2021. PMID: 33729075 Free PMC article.

4

Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.

Nadelmann JB, O'Neil EC, Kim DS, Juusola J, Aleman TS. Nadelmann JB, et al. Doc Ophthalmol. 2021 Dec;143(3):305-312. doi: 10.1007/s10633-021-09847-7. Epub 2021 Jul 14. Doc Ophthalmol. 2021. PMID: 34259982

5

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis.

O'Connor K, O'Neil EC, Aleman TS. O'Connor K, et al. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101260. doi: 10.1016/j.ajoc.2022.101260. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 35128149 Free PMC article.

6

RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.

Bedoukian EC, O'Neil EC, Aleman TS. Bedoukian EC, et al. Among authors: o neil ec. Ophthalmic Genet. 2022 Aug;43(4):555-560. doi: 10.1080/13816810.2022.2062389. Epub 2022 Apr 28. Ophthalmic Genet. 2022. PMID: 35484846

7

DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.

O'Neil EC, Uyhazi KE, O'Connor K, Aleman IA, Pulido JS, Rossano JW, Aleman TS. O'Neil EC, et al. Retin Cases Brief Rep. 2022 Nov 1;16(6):707-713. doi: 10.1097/ICB.0000000000001125. Retin Cases Brief Rep. 2022. PMID: 36288619

8

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.

Aleman TS, O'Neil EC, Uyhazi KE, Parchinski KM, Santos AJ, Weber ML, Colclough SP, Billek AS, Zhu X, Leroy BP, Bedoukian EC. Aleman TS, et al. Among authors: o neil ec. Ophthalmic Genet. 2022 Dec;43(6):824-833. doi: 10.1080/13816810.2022.2147960. Epub 2022 Dec 5. Ophthalmic Genet. 2022. PMID: 36469661

9

Optimization and Validation of a Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations.

Bennett J, Aleman EM, Maguire KH, Nadelmann J, Weber ML, Maguire WM, Maja A, O'Neil EC, Maguire AM, Miller AJ, Aleman TS. Bennett J, et al. Among authors: o neil ec. Transl Vis Sci Technol. 2023 Jan 3;12(1):28. doi: 10.1167/tvst.12.1.28. Transl Vis Sci Technol. 2023. PMID: 36716040 Free PMC article.

10

NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.

Tauqeer Z, O'Neil EC, Brucker AJ, Aleman TS. Tauqeer Z, et al. Retin Cases Brief Rep. 2023 Jul 1;17(4):352-358. doi: 10.1097/ICB.0000000000001208. Epub 2021 Nov 17. Retin Cases Brief Rep. 2023. PMID: 36913617

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