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Journal Abstract Search

143 related items for PubMed ID: 35484846

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  • 4. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K, Hosono K, Hotta Y.
    Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
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  • 5. Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
    Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.
    Ophthalmic Genet; 2021 Jun; 42(3):252-265. PubMed ID: 33729075
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  • 6. Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
    Lin Y, Xu CL, Velez G, Yang J, Tanaka AJ, Breazzano MP, Mahajan VB, Sparrow JR, Tsang SH.
    Doc Ophthalmol; 2020 Feb; 140(1):67-75. PubMed ID: 31538292
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  • 7. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):5225-5236. PubMed ID: 30372751
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  • 12. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
    Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y.
    Genes (Basel); 2022 Feb 16; 13(2):. PubMed ID: 35205402
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  • 15. Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.
    Acton JH, Greenberg JP, Greenstein VC, Marsiglia M, Tabacaru M, Theodore Smith R, Tsang SH.
    Exp Eye Res; 2013 Aug 16; 113():41-8. PubMed ID: 23669302
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  • 16. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
    Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK.
    Arch Ophthalmol; 2011 Nov 16; 129(11):1475-82. PubMed ID: 22084217
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  • 17. Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
    Al-Bdour M, Pauleck S, Dardas Z, Barham R, Ali D, Amr S, Mustafa L, Abu-Ameerh M, Maswadi R, Azab B, Awidi A.
    Mol Vis; 2020 Nov 16; 26():445-458. PubMed ID: 32587456
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  • 18. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
    Oh JK, Lima de Carvalho JR, Sun YJ, Ragi S, Yang J, Levi SR, Ryu J, Bassuk AG, Mahajan VB, Tsang SH.
    Orphanet J Rare Dis; 2019 Dec 19; 14(1):295. PubMed ID: 31856884
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  • 19. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
    Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS.
    Ophthalmic Genet; 2016 Dec 19; 37(4):445-452. PubMed ID: 27028354
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  • 20. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Dec 19; 26():423-433. PubMed ID: 32565670
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