Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
2000 1
2002 1
2004 4
2005 5
2006 5
2007 9
2008 11
2009 12
2010 9
2011 4
2012 4
2013 6
2014 7
2015 7
2016 6
2017 6
2018 5
2019 10
2020 12
Text availability
Article attribute
Article type
Publication date

Search Results

108 results
Results by year
Filters applied: . Clear all
Page 1
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H, Moosajee M. Sarkar H, et al. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. Epub 2019 Sep 7. Exp Eye Res. 2019. PMID: 31505163 Review.
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. ...Mutations in RDH12 have been linked to Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa. A number …
Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photorecept …
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy.
Feathers KL, Jia L, Perera ND, Chen A, Presswalla FK, Khan NW, Fahim AT, Smith AJ, Ali RR, Thompson DA. Feathers KL, et al. Hum Gene Ther. 2019 Nov;30(11):1325-1335. doi: 10.1089/hum.2019.017. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31237438
RDH12 is a member of the enzyme family of short-chain dehydrogenases/reductases. In the retina, RDH12 plays a critical role in reducing toxic retinaldehydes generated by visual cycle activity that is required for the light response of the photoreceptor cells. Indivi
RDH12 is a member of the enzyme family of short-chain dehydrogenases/reductases. In the retina, RDH12 plays a critical role in
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J. Aleman TS, et al. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):5225-5236. doi: 10.1167/iovs.18-24708. Invest Ophthalmol Vis Sci. 2018. PMID: 30372751
PURPOSE: To describe the retinal phenotype of pediatric patients with mutations in the retinol dehydrogenase 12 (RDH12) gene. METHODS: Twenty-one patients from 14 families (ages 2-17 years) with RDH12-associated inherited retinal degeneration (RDH12-IRD) unde …
PURPOSE: To describe the retinal phenotype of pediatric patients with mutations in the retinol dehydrogenase 12 (RDH12) gene. METHODS …
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA. Fahim AT, et al. Adv Exp Med Biol. 2019;1185:209-213. doi: 10.1007/978-3-030-27378-1_34. Adv Exp Med Biol. 2019. PMID: 31884613 Free PMC article. Review.
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ...RDH12-associated retinal degeneration is particularly devastating due to early macular atrophy, which will likely impact therapeutic ou …
Mutations in retinol dehydrogenase 12 (RDH12) cause a severe early-onset retinal degeneration, for which there is no treatment. ... …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
CONCLUSION: Several high-frequency RDH12 variants were identified in patients with inherited retinal dystrophies, most of which were missense mutations. ...Overall, the findings indicated that biallelic RDH12 mutations are a common cause of early-onset retinal dystr …
CONCLUSION: Several high-frequency RDH12 variants were identified in patients with inherited retinal dystrophies, most of which were …
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. 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 Clinical Trial.
The purpose of this study was to characterise the natural history of RDH12-associated retinal degeneration. METHODS: A retrospective chart review was performed in individuals with retinal degeneration and two likely disease-causing variants in RDH12. ...These findin …
The purpose of this study was to characterise the natural history of RDH12-associated retinal degeneration. METHODS: A retrospective …
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Garg A, Lee W, Sengillo JD, Allikmets R, Garg K, Tsang SH. Garg A, et al. Ophthalmic Genet. 2017 Dec;38(6):575-579. doi: 10.1080/13816810.2017.1323339. Epub 2017 May 17. Ophthalmic Genet. 2017. PMID: 28513254 Free PMC article.
MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. ...CONCLUSIONS: Peripapillary sparing is a n …
MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and …
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2017 Jan 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301590 Free Books & Documents. Review.
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration.
Philip S, Xu X, Laud KG, Sengillo JD, Tsang SH, Yannuzzi LA. Philip S, et al. Ophthalmic Genet. 2019 Aug;40(4):362-364. doi: 10.1080/13816810.2019.1655770. Epub 2019 Aug 19. Ophthalmic Genet. 2019. PMID: 31424981
Background: Leber congenital amaurosis (LCA) due to RDH12 mutations typically manifests with severe vision loss and panretinal dystrophy. ...Results: A 17-year-old boy with previously diagnosed LCA/early-onset retinal dystrophy (EOSRD), with subsequently identified biallel …
Background: Leber congenital amaurosis (LCA) due to RDH12 mutations typically manifests with severe vision loss and panretinal dystro …
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.
The two affected subjects carried both RDH12 variants, while their parents and offspring carried only one of heterozygous variants, showing complete cosegregation of the variants. ...Besides, the RDH12 variants were confirmed by targeted next-generation sequencing. …
The two affected subjects carried both RDH12 variants, while their parents and offspring carried only one of heterozygous variants, s …
108 results
Jump to page
Feedback