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CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: mahroo oa. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium. Khan KN, et al. Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1. Eur J Hum Genet. 2018. PMID: 29391521 Free PMC article.
Retinal findings in a patient with mutations in ABCC6 and ABCA4.
Mahroo OA, Fujinami K, Moore AT, Webster AR. Mahroo OA, et al. Eye (Lond). 2018 Sep;32(9):1542-1543. doi: 10.1038/s41433-018-0106-3. Epub 2018 May 16. Eye (Lond). 2018. PMID: 29765157 Free PMC article. No abstract available.
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Mahroo OA, Khan KN, Wright G, Ockrim Z, Scalco RS, Robson AG, Tufail A, Michaelides M, Quinlivan R, Webster AR. Mahroo OA, et al. Ophthalmology. 2019 Feb;126(2):320-322. doi: 10.1016/j.ophtha.2018.09.013. Epub 2018 Oct 11. Ophthalmology. 2019. PMID: 30316539 Free PMC article. 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. Among authors: mahroo oa. 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.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. Pontikos N, et al. Among authors: mahroo oa. Ophthalmology. 2020 Oct;127(10):1384-1394. doi: 10.1016/j.ophtha.2020.04.008. Epub 2020 Apr 16. Ophthalmology. 2020. PMID: 32423767 Free PMC article.
150 results