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Year Number of Results
1993 1
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2000 1
2004 1
2008 1
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2014 4
2015 3
2016 1
2018 1
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2022 5
2023 4
2024 1

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Page 1
Prevalence of RPGR-mutated X-linked retinitis pigmentosa among males.
Vinikoor-Imler LC, Simpson C, Narayanan D, Abbasi S, Lally C. Vinikoor-Imler LC, et al. Ophthalmic Genet. 2022 Oct;43(5):581-588. doi: 10.1080/13816810.2022.2109686. Epub 2022 Aug 25. Ophthalmic Genet. 2022. PMID: 36004681 Review.
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS AND METHODS: A comprehensive literature review was conducted to determine the prevalence of retinitis pigmentosa GTPase regula …
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is a rare inherited retinal disease predominantly affecting males. MATERIALS …
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.
Lyraki R, Megaw R, Hurd T. Lyraki R, et al. Biochem Soc Trans. 2016 Oct 15;44(5):1235-1244. doi: 10.1042/BST20160148. Biochem Soc Trans. 2016. PMID: 27911705 Review.
Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. ...The majority of patients with X-linked RP have mutations in the retinitis pigmentosa
Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited re …
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Free article. Review.
USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of life and variable vestibular involvement. ...
USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of …
MFRP variant results in nanophthalmos, retinitis pigmentosa, variability in foveal avascular zone.
Vanden Heuvel C, Aldred B, Boulter T, Sullivan R, Ver Hoeve J, Schmitt M. Vanden Heuvel C, et al. Ophthalmic Genet. 2023 Feb;44(1):83-88. doi: 10.1080/13816810.2022.2103835. Epub 2022 Jul 26. Ophthalmic Genet. 2023. PMID: 35880649 Review.
MFRP mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve head (ONH) drusen. ...(Cys285*) and MFRP c.1235T>C, p.(Leu412Pro) in trans resulted in nanophthalmos and retinitis pigmentosa
MFRP mutations are known to cause nanophthalmos and, in some cases, retinitis pigmentosa, foveoschisis, and/or optic nerve hea …
Injectable hydrogels based on biopolymers for the treatment of ocular diseases.
Yu C, Xu J, Heidari G, Jiang H, Shi Y, Wu A, Makvandi P, Neisiany RE, Zare EN, Shao M, Hu L. Yu C, et al. Int J Biol Macromol. 2024 Jun;269(Pt 1):132086. doi: 10.1016/j.ijbiomac.2024.132086. Epub 2024 May 3. Int J Biol Macromol. 2024. PMID: 38705321 Review.
These conditions include glaucoma, cataracts, corneal disorders (spanning from age-related degeneration to trauma, infections, and underlying chronic illnesses), retina-associated ailments (such as diabetic retinopathy, retinitis pigmentosa, and age-related macular …
These conditions include glaucoma, cataracts, corneal disorders (spanning from age-related degeneration to trauma, infections, and underlyin …
Juvenile-onset macular degeneration and allied disorders.
North V, Gelman R, Tsang SH. North V, et al. Dev Ophthalmol. 2014;53:44-52. doi: 10.1159/000357293. Epub 2014 Apr 10. Dev Ophthalmol. 2014. PMID: 24732760 Free PMC article. Review.
These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. ...
These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked …
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH, Cornish EE, Nash BM, Jamieson RV, Grigg JR. Sakti DH, et al. Ophthalmic Genet. 2023 Oct;44(5):437-455. doi: 10.1080/13816810.2023.2215310. Epub 2023 May 31. Ophthalmic Genet. 2023. PMID: 37259572 Review.
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentosa (adRP). This study reports a novel variant in a family with IMPDH1-associated retinopathy. ...
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) are causative for RP10 autosomal dominant retinitis pigmentos
Susceptibility of TNFAIP8, TNFAIP8L1, and TNFAIP2 Gene Polymorphisms on Cancer Risk: A Comprehensive Review and Meta-Analysis of Case-Control Studies.
Bhowmik KK, Barek MA, Aziz MA, Islam MS. Bhowmik KK, et al. Technol Cancer Res Treat. 2022 Jan-Dec;21:15330338221123109. doi: 10.1177/15330338221123109. Technol Cancer Res Treat. 2022. PMID: 36254562 Free PMC article. Review.
Four genetic models of rs11064 (codominant 2 [COD2]: OR = 2.30, p = 7.83 10(-5); codominant 3 [COD3]: OR = 2.10, p = .0006; recessive model [RM]: OR = 2.24, p = .0001; AC: OR = 1.47, p = .037), two genetic models of rs1045241 (codominant 1 [COD1]: OR = 1.27, p = .009; overdominan …
Four genetic models of rs11064 (codominant 2 [COD2]: OR = 2.30, p = 7.83 10(-5); codominant 3 [COD3]: OR = 2.10, p = .0006; recessive model …
24 results