Bedoukian E - Search Results

1

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: bedoukian e. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 Free PMC article.

2

Isolated maculopathy associated with biallelic CRB1 mutations.

Shah N, Damani MR, Zhu XS, Bedoukian EC, Bennett J, Maguire AM, Leroy BP. Shah N, et al. Ophthalmic Genet. 2017 Mar-Apr;38(2):190-193. doi: 10.3109/13816810.2016.1155225. Epub 2016 Apr 20. Ophthalmic Genet. 2017. PMID: 27096895 No abstract available.

3

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA. Bujakowska KM, et al. Among authors: bedoukian ec. Genet Med. 2017 Jun;19(6):643-651. doi: 10.1038/gim.2016.158. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735924 Free PMC article.

4

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.

Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA. Men CJ, et al. Among authors: bedoukian ec. Mol Vis. 2017 Oct 10;23:695-706. eCollection 2017. Mol Vis. 2017. PMID: 29062221 Free PMC article.

5

ENHANCED S-CONE SYNDROME: VISUAL FUNCTION, CROSS-SECTIONAL IMAGING, AND CELLULAR STRUCTURE WITH ADAPTIVE OPTICS OPHTHALMOSCOPY.

Ammar MJ, Scavelli KT, Uyhazi KE, Bedoukian EC, Serrano LW, Edelstein ID, Vergilio G, Cooper RF, Morgan JIW, Kumar P, Aleman TS. Ammar MJ, et al. Among authors: bedoukian ec. Retin Cases Brief Rep. 2021 Nov 1;15(6):694-701. doi: 10.1097/ICB.0000000000000891. Retin Cases Brief Rep. 2021. PMID: 31306293 Free PMC article.

6

NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.

Bedoukian EC, Zhu X, Serrano LW, Scoles D, Aleman TS. Bedoukian EC, et al. Retin Cases Brief Rep. 2022 May 1;16(3):385-392. doi: 10.1097/ICB.0000000000000992. Epub 2020 Mar 4. Retin Cases Brief Rep. 2022. PMID: 32150116

7

A Virtual Reality Orientation and Mobility Test for Inherited Retinal Degenerations: Testing a Proof-of-Concept After Gene Therapy.

Aleman TS, Miller AJ, Maguire KH, Aleman EM, Serrano LW, O'Connor KB, Bedoukian EC, Leroy BP, Maguire AM, Bennett J. Aleman TS, et al. Clin Ophthalmol. 2021 Mar 2;15:939-952. doi: 10.2147/OPTH.S292527. eCollection 2021. Clin Ophthalmol. 2021. PMID: 33688162 Free PMC article.

8

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

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

9

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: bedoukian ec. J Neuroophthalmol. 2023 Mar 1;43(1):110-115. doi: 10.1097/WNO.0000000000001678. Epub 2022 Aug 2. J Neuroophthalmol. 2023. PMID: 35921603

10

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: bedoukian ec. Ophthalmic Genet. 2022 Dec;43(6):824-833. doi: 10.1080/13816810.2022.2147960. Epub 2022 Dec 5. Ophthalmic Genet. 2022. PMID: 36469661

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