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PRPS1-associated retinopathy: a diagnostic odyssey.
Alzahem TA, AlTheeb A, Ba-Abbad R. Alzahem TA, et al. Among authors: ba abbad r. Ophthalmic Genet. 2024 Apr 15:1-5. doi: 10.1080/13816810.2024.2321871. Online ahead of print. Ophthalmic Genet. 2024. PMID: 38619019
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.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
Daich Varela M, Duignan ES, De Silva SR, Ba-Abbad R, Fujinami-Yokokawa Y, Leo S, Fujinami K, Mahroo OA, Robson AG, Webster AR, Michaelides M. Daich Varela M, et al. Among authors: ba abbad r. Ophthalmol Retina. 2023 Oct;7(10):918-931. doi: 10.1016/j.oret.2023.06.007. Epub 2023 Jun 17. Ophthalmol Retina. 2023. PMID: 37331655 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