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Quoted phrase not found in phrase index: "Retinitis Pigmentosa, Dominant"
Page 1
Retinitis pigmentosa.
Hamel C. Hamel C. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Orphanet J Rare Dis. 2006. PMID: 17032466 Free PMC article. Review.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. ...To date, 45 causative genes/loci have been identified in non syndromic RP (for the autoso …
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associated retinopathy) show diverse phenotypes from variants in the same gene and also highlight limitations of current genetic sequencing methods. ...W …
The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associated re …
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Koyanagi Y, et al. J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17. J Med Genet. 2019. PMID: 31213501
BACKGROUND: The genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. ...(Cys934Trp) in USH2A were found in 10 patients. Among autosomal dominant genes, four pathogenic variants [p.(Pro347Leu) in RHO, p.(Arg87 …
BACKGROUND: The genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. ...(Cy …
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.
PURPOSE: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian patients. ...Mean ages of onset of the different classes of RP were autosomal dominant RP, 19.3 12.6 years; autosomal recessive RP, 23 …
PURPOSE: To describe the molecular epidemiology of nonsyndromic retinitis pigmentosa (RP) and Usher syndrome (US) in Italian p …
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C. Martin-Merida I, et al. Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20. Ophthalmology. 2019. PMID: 30902645
PURPOSE: We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date. ...PARTICIPANTS: A cohort of 877 unrelated Spanish sporadic cases with a clinical diagnosis of retinitis pigmentosa (RP) and …
PURPOSE: We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date …
Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
Meng D, Ragi SD, Tsang SH. Meng D, et al. Mol Ther. 2020 Oct 7;28(10):2139-2149. doi: 10.1016/j.ymthe.2020.08.012. Epub 2020 Aug 25. Mol Ther. 2020. PMID: 32882181 Free PMC article. Review.
Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary degenerative disorder in which mutations in the gene encoding RHO, the light-sensitive G protein-coupled receptor involved in phototransduction in rods, lead to progressive …
Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary degenerative disorder in which mu …
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Cold Spring Harb Perspect Med. 2014 Oct 10;5(10):a017129. doi: 10.1101/cshperspect.a017129. Cold Spring Harb Perspect Med. 2014. PMID: 25304133 Free PMC article. Review.
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). ...
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant …
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. ...For example, truncating mutations in RP1, a gene implicated in both recessive and dominant RP, were causative in biallelic constellations, unrelated to disease wh …
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. ...For example, truncating mutat …
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. One patient had an autosomal dominant CSNB with a RHO variant; five patients had complete CSNB with variants in GRM6, TRPM1, and NYX; and one …
The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. One patie …
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
Kong L, Chu G, Ma W, Liang J, Liu D, Liu Q, Wei X, Jia S, Gu H, He Y, Luo W, Cao S, Zhou X, He R, Yuan Z. Kong L, et al. J Med Genet. 2023 Oct;60(10):939-950. doi: 10.1136/jmg-2022-108888. Epub 2023 Apr 3. J Med Genet. 2023. PMID: 37012052
BACKGROUND: Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (VWA8) encodes a mitochondrial matrix-targeted pr …
BACKGROUND: Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%-45% …
382 results