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hereditary retinal dystrophy相关文献:
Hereditary Retinal Dystrophy.
Hohman TC.
Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91.
PMID:28035529
Gene therapy in hereditary retinal dystrophy.
Chien JY, Huang SP.
Tzu Chi Med J. 2022 Aug 23;34(4):367-372. doi: 10.4103/tcmj.tcmj_78_22. eCollection 2022 Oct-Dec.
PMID:36578644
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
Br J Ophthalmol. 2020 Jul;104(7):932-937. doi: 10.1136/bjophthalmol-2019-314281. Epub 2019 Oct 19.
PMID:31630094
[Retinitis pigmentosa].
Bruninx R, Lepièce G.
Rev Med Liege. 2020 Feb;75(2):73-74.
PMID:32030928
Retinitis pigmentosa.
Hartong DT, Berson EL, Dryja TP.
Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7.
PMID:17113430
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.
Liu X, Tao T, Zhao L, Li G, Yang L.
Clin Exp Ophthalmol. 2021 Jan;49(1):46-59. doi: 10.1111/ceo.13875. Epub 2020 Nov 2.
PMID:33090715
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M.
Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24.
PMID:38278208
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L, Zhang J, Chen N, Wang L, Zhang F, Ma Z, Li G, Yang L.
Genes (Basel). 2018 Jul 19;9(7):360. doi: 10.3390/genes9070360.
PMID:30029497
Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.
Kahraman NS, Öner A, Özkul Y, Dündar M.
Turk J Ophthalmol. 2022 Aug 25;52(4):270-275. doi: 10.4274/tjo.galenos.2021.74944.
PMID:36017377
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A, Cammarata G, Tremolada G, Manfredini E, Bianchi Marzoli S, Di Blasio AM.
Genes (Basel). 2024 Jun 12;15(6):766. doi: 10.3390/genes15060766.
PMID:38927702
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