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Journal Abstract Search

109 related items for PubMed ID: 36317196

  • 41. Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.
    Lin TY, Chang YC, Hsiao YJ, Chien Y, Jheng YC, Wu JR, Ching LJ, Hwang DK, Hsu CC, Lin TC, Chou YB, Huang YM, Chen SJ, Yang YP, Tsai PH.
    Int J Mol Sci; 2021 May 25; 22(11):. PubMed ID: 34070492
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  • 43. Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.
    Sun Y, Li JK, He W, Wang ZS, Bai JY, Xu L, Xing B, Zhang JG, Wang L, Li W, Chen F.
    Mol Genet Genomic Med; 2020 Mar 25; 8(3):e1117. PubMed ID: 31944634
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  • 44. Chapter 29: historical aspects of the major neurological vitamin deficiency disorders: overview and fat-soluble vitamin A.
    Lanska DJ.
    Handb Clin Neurol; 2010 Mar 25; 95():435-44. PubMed ID: 19892132
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  • 46. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.
    Hum Mutat; 2013 Mar 25; 34(3):506-14. PubMed ID: 23281133
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  • 49. Transgenic Mice Over-Expressing RBP4 Have RBP4-Dependent and Light-Independent Retinal Degeneration.
    Du M, Phelps E, Balangue MJ, Dockins A, Moiseyev G, Shin Y, Kane S, Otalora L, Ma JX, Farjo R, Farjo KM.
    Invest Ophthalmol Vis Sci; 2017 Aug 01; 58(10):4375–4383. PubMed ID: 28813718
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  • 52. Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
    Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL.
    Mol Vis; 2010 Mar 19; 16():467-75. PubMed ID: 20309403
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  • 54. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
    Chou CM, Nelson C, Tarlé SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T.
    Cell; 2015 Apr 23; 161(3):634-646. PubMed ID: 25910211
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  • 55. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
    Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA.
    Mol Vis; 2009 Sep 05; 15():1794-8. PubMed ID: 19753314
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  • 56. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
    Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.
    Br J Ophthalmol; 2007 Jan 05; 91(1):89-93. PubMed ID: 16916875
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  • 57. A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
    Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.
    Br J Ophthalmol; 2016 Apr 05; 100(4):495-500. PubMed ID: 26472407
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  • 58. Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study.
    Adilovic M, Ignjatic E, Cabric A.
    Acta Inform Med; 2022 Dec 05; 30(4):329-333. PubMed ID: 36467319
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  • 59. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS, Kay CN.
    Ophthalmic Genet; 2015 Dec 05; 36(3):251-6. PubMed ID: 24428633
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  • 60. [A family of Oguchi's disease with progressive muscle dystrophy from parents with retinitis pigmentosa].
    YAMANAKA M, IWAMOTO S.
    Nihon Ganka Kiyo; 1962 Dec 05; 13():672-6. PubMed ID: 14002364
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