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2018 3
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36 results

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Page 1
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. 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.
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M. Khan KN, et al. Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6. Ophthalmology. 2018. PMID: 29310964 Free PMC article.
Photophobia in migraine: A symptom cluster?
Wilkins AJ, Haigh SM, Mahroo OA, Plant GT. Wilkins AJ, et al. Cephalalgia. 2021 Oct;41(11-12):1240-1248. doi: 10.1177/03331024211014633. Epub 2021 May 14. Cephalalgia. 2021. PMID: 33990148 Free PMC article. Review.
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.
Hysi PG, Choquet H, Khawaja AP, Wojciechowski R, Tedja MS, Yin J, Simcoe MJ, Patasova K, Mahroo OA, Thai KK, Cumberland PM, Melles RB, Verhoeven VJM, Vitart V, Segre A, Stone RA, Wareham N, Hewitt AW, Mackey DA, Klaver CCW, MacGregor S; Consortium for Refractive Error and Myopia; Khaw PT, Foster PJ; UK Eye and Vision Consortium; Guggenheim JA; 23andMe Inc.; Rahi JS, Jorgenson E, Hammond CJ. Hysi PG, et al. Nat Genet. 2020 Apr;52(4):401-407. doi: 10.1038/s41588-020-0599-0. Epub 2020 Mar 30. Nat Genet. 2020. PMID: 32231278 Free PMC article.
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
Tanner A, Chan HW, Pulido JS, Arno G, Ba-Abbad R, Jurkute N, Robson AG, Egan CA, Knight H, Calcagni A, Taylor RL, Lenassi E, Black GC, Moore AT, Michaelides M, Webster AR, Mahroo OA. Tanner A, et al. Ophthalmology. 2021 Jun;128(6):952-955. doi: 10.1016/j.ophtha.2020.10.032. Epub 2020 Nov 1. Ophthalmology. 2021. PMID: 33137351 Free PMC article. No abstract available.
36 results