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congenital retinitis pigmentosa相关文献:
[Gene therapy for retinitis pigmentosa].
Ducloyer JB, Le Meur G, Cronin T, Adjali O, Weber M.
Med Sci (Paris). 2020 Jun-Jul;36(6-7):607-615. doi: 10.1051/medsci/2020095. Epub 2020 Jul 2.
PMID:32614312
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME.
Prog Retin Eye Res. 2018 Jan;62:1-23. doi: 10.1016/j.preteyeres.2017.10.002. Epub 2017 Oct 16.
PMID:29042326
CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
Peng S, Li JJ, Song W, Li Y, Zeng L, Liang Q, Wen X, Shang H, Liu K, Peng P, Xue W, Zou B, Yang L, Liang J, Zhang Z, Guo S, Chen T, Li W, Jin M, Xing XB, Wan P, Liu C, Lin H, Wei H, Lee RWJ, Zhang F, Wei L.
Cell. 2024 Mar 14;187(6):1387-1401.e13. doi: 10.1016/j.cell.2024.01.040. Epub 2024 Feb 26.
PMID:38412859
Etiology of Retinitis Pigmentosa.
Breazzano MP, Grewal MR, Tsang SH, Chen RWS.
Methods Mol Biol. 2023;2560:15-30. doi: 10.1007/978-1-0716-2651-1_2.
PMID:36481880
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V.
Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.
PMID:34382076
Leber Congenital Amaurosis.
Tsang SH, Sharma T.
Adv Exp Med Biol. 2018;1085:131-137. doi: 10.1007/978-3-319-95046-4_26.
PMID:30578499
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Hanany M, Shalom S, Ben-Yosef T, Sharon D.
Cold Spring Harb Perspect Med. 2024 Feb 1;14(2):a041277. doi: 10.1101/cshperspect.a041277.
PMID:37460155
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Rivolta C, Berson EL, Dryja TP.
Hum Mutat. 2001 Dec;18(6):488-98. doi: 10.1002/humu.1226.
PMID:11748842
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.
Kessel L, Bertelsen M, Grønskov K.
Ophthalmic Genet. 2022 Dec;43(6):876-881. doi: 10.1080/13816810.2022.2141789. Epub 2022 Oct 31.
PMID:36317196
Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F.
J Patient Rep Outcomes. 2023 Jul 19;7(1):74. doi: 10.1186/s41687-023-00610-x.
PMID:37466759
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