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Novel non-contiguous exon duplication in choroideremia.
Edwards TL, Williams J, Patrício MI, Simunovic MP, Shanks M, Clouston P, MacLaren RE. Edwards TL, et al. Among authors: patricio mi. Clin Genet. 2018 Jan;93(1):144-148. doi: 10.1111/cge.13021. Epub 2017 Apr 19. Clin Genet. 2018. PMID: 28369842
Retinal Degeneration in Choroideremia follows an Exponential Decay Function.
Aylward JW, Xue K, Patrício MI, Jolly JK, Wood JC, Brett J, Jasani KM, MacLaren RE. Aylward JW, et al. Among authors: patricio mi. Ophthalmology. 2018 Jul;125(7):1122-1124. doi: 10.1016/j.ophtha.2018.02.004. Epub 2018 Mar 23. Ophthalmology. 2018. PMID: 29580667 Free article. No abstract available.
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE. Xue K, et al. Among authors: patricio mi. Nat Med. 2018 Oct;24(10):1507-1512. doi: 10.1038/s41591-018-0185-5. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297895 Free PMC article.
24 results