首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
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
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
[Retinitis pigmentosa].
Bruninx R, Lepièce G.
Rev Med Liege. 2020 Feb;75(2):73-74.
PMID:32030928
The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.
Karaa A, Goldstein A.
Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20.
PMID:25330715
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
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
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
[Ciliopathies].
Gerth-Kahlert C, Koller S.
Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13.
PMID:29534263
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3