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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: reddy ma. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
Childhood-onset Leber hereditary optic neuropathy.
Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. Majander A, et al. Among authors: reddy ma. Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17. Br J Ophthalmol. 2017. PMID: 28314831 Free article.
Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries.
Fabian ID, Khetan V, Stacey AW, Allen Foster, Ademola-Popoola DS, Berry JL, Cassoux N, Chantada GL, Hessissen L, Kaliki S, Kivelä TT, Luna-Fineman S, Munier FL, Reddy MA, Rojanaporn D, Blum S, Sherief ST, Staffieri SE, Theophile T, Waddell K, Ji X, Astbury NJ, Bascaran C, Burton M, Zondervan M, Bowman R; Global Retinoblastoma Study Group. Fabian ID, et al. Among authors: reddy ma. Eye (Lond). 2022 Aug;36(8):1571-1577. doi: 10.1038/s41433-021-01675-y. Epub 2021 Jul 16. Eye (Lond). 2022. PMID: 34272514 Free PMC article.
207 results