Similar articles for PMID: 27010695

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1

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.

den Hollander AI. den Hollander AI. Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1378-87. doi: 10.1167/iovs.15-18167. Invest Ophthalmol Vis Sci. 2016. PMID: 27010695

2

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.

Kondkar AA, Abu-Amero KK. Kondkar AA, et al. Exp Eye Res. 2019 Dec;189:107834. doi: 10.1016/j.exer.2019.107834. Epub 2019 Oct 19. Exp Eye Res. 2019. PMID: 31639339 Review.

3

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

Kumaran N, Moore AT, Weleber RG, Michaelides M. Kumaran N, et al. Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8. Br J Ophthalmol. 2017. PMID: 28689169 Free PMC article. Review.

4

Available Evidence on Leber Congenital Amaurosis and Gene Therapy.

Alkharashi M, Fulton AB. Alkharashi M, et al. Semin Ophthalmol. 2017;32(1):14-21. doi: 10.1080/08820538.2016.1228383. Epub 2016 Sep 29. Semin Ophthalmol. 2017. PMID: 27686653 Review.

5

Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.

Li Y, Pan Q, Gu YS. Li Y, et al. J Zhejiang Univ Sci B. 2017 May;18(5):421-429. doi: 10.1631/jzus.B1600156. J Zhejiang Univ Sci B. 2017. PMID: 28471114 Free PMC article.

6

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI. Estrada-Cuzcano A, et al. Invest Ophthalmol Vis Sci. 2011 Feb 11;52(2):834-9. doi: 10.1167/iovs.10-5221. Invest Ophthalmol Vis Sci. 2011. PMID: 20881296

7

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. Mackay DS, et al. Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025. Invest Ophthalmol Vis Sci. 2011. PMID: 21310915

8

Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

Seong MW, Seo SH, Yu YS, Hwang JM, Cho SI, Ra EK, Park H, Lee SJ, Kim JY, Park SS. Seong MW, et al. J Mol Diagn. 2015 Jan;17(1):100-5. doi: 10.1016/j.jmoldx.2014.09.003. Epub 2014 Oct 24. J Mol Diagn. 2015. PMID: 25445212 Free article.

9

Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.

Wang S, Zhang Q, Zhang X, Wang Z, Zhao P. Wang S, et al. Graefes Arch Clin Exp Ophthalmol. 2016 Nov;254(11):2227-2238. doi: 10.1007/s00417-016-3428-5. Epub 2016 Jul 16. Graefes Arch Clin Exp Ophthalmol. 2016. PMID: 27422788

10

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK. Yücel-Yılmaz D, et al. DNA Cell Biol. 2014 Dec;33(12):876-83. doi: 10.1089/dna.2014.2554. DNA Cell Biol. 2014. PMID: 25148430

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