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Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: christiansen s. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.
Expansion of the CHN1 strabismus phenotype.
Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Miyake N, et al. Among authors: christiansen sp. Invest Ophthalmol Vis Sci. 2011 Aug 11;52(9):6321-8. doi: 10.1167/iovs.11-7950. Invest Ophthalmol Vis Sci. 2011. PMID: 21715346 Free PMC article.
The Pediatric Optic Neuritis Prospective Outcomes Study: Two-Year Results.
Pineles SL, Henderson RJ, Repka MX, Heidary G, Liu GT, Waldman AT, Borchert MS, Khanna S, Graves JS, Collinge JE, Conley JA, Davis PL, Kraker RT, Cotter SA, Holmes JM; Pediatric Eye Disease Investigator Group. Pineles SL, et al. Ophthalmology. 2022 Aug;129(8):856-864. doi: 10.1016/j.ophtha.2022.03.021. Epub 2022 Mar 29. Ophthalmology. 2022. PMID: 35364222 Free PMC article.
Myopic Shift at 10-Year Follow-up in the Infant Aphakia Treatment Study.
Weakley DR Jr, Nizam A, VanderVeen DK, Wilson ME, Kruger S, Lambert SR; Infant Aphakia Treatment Study Group. Weakley DR Jr, et al. Ophthalmology. 2022 Sep;129(9):1064-1065. doi: 10.1016/j.ophtha.2022.04.004. Epub 2022 Apr 8. Ophthalmology. 2022. PMID: 35398306 Free PMC article.
928 results