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Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simões RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R. Bertrand RE, et al. Among authors: ba abbad r. Genet Med. 2021 Mar;23(3):488-497. doi: 10.1038/s41436-020-01003-x. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077892 Free PMC article.
Prph2 mutations as a cause of electronegative ERG.
Ba-Abbad R, Robson AG, Yap YC, Moore AT, Webster AR, Holder GE. Ba-Abbad R, et al. Retina. 2014 Jun;34(6):1235-43. doi: 10.1097/IAE.0000000000000052. Retina. 2014. PMID: 24608669
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE. Ba-Abbad R, et al. Ophthalmology. 2016 Mar;123(3):668-71.e2. doi: 10.1016/j.ophtha.2015.09.045. Epub 2015 Nov 7. Ophthalmology. 2016. PMID: 26560832 No abstract available.
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
Ba-Abbad R, Leys M, Wang X, Chakarova C, Waseem N, Carss KJ, Raymond FL, Bujakowska KM, Pierce EA, Mahroo OA, Mohamed MD, Holder GE, Hummel M, Arno G, Webster AR. Ba-Abbad R, et al. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4812-4820. doi: 10.1167/iovs.18-25061. Invest Ophthalmol Vis Sci. 2018. PMID: 30347075 Free PMC article.
Isolated rod dysfunction associated with a novel genotype of CNGB1.
Ba-Abbad R, Holder GE, Robson AG, Neveu MM, Waseem N, Arno G, Webster AR. Ba-Abbad R, et al. Am J Ophthalmol Case Rep. 2019 Mar 19;14:83-86. doi: 10.1016/j.ajoc.2019.03.004. eCollection 2019 Jun. Am J Ophthalmol Case Rep. 2019. PMID: 30976726 Free PMC article.
31 results