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Journal Abstract Search

705 related items for PubMed ID: 23281133

  • 1. 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; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 2. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
    Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.
    Invest Ophthalmol Vis Sci; 2018 Jun 01; 59(7):3041-3052. PubMed ID: 30025130
    [Abstract] [Full Text] [Related]

  • 3. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
    Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.
    Optom Vis Sci; 2012 May 10; 89(5):684-91. PubMed ID: 22504327
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  • 5. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 10; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 6. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 7. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
    Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP.
    Ophthalmic Genet; 2017 Nov 17; 38(2):127-132. PubMed ID: 27029556
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  • 9. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
    [Abstract] [Full Text] [Related]

  • 10. Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.
    Albarry MA, Hashmi JA, Alreheli AQ, Albalawi AM, Khan B, Ramzan K, Basit S.
    Ophthalmic Genet; 2019 Dec 24; 40(6):507-513. PubMed ID: 31833436
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  • 11. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    BMC Genet; 2014 Dec 14; 15():143. PubMed ID: 25494902
    [Abstract] [Full Text] [Related]

  • 12. Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
    Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K.
    Invest Ophthalmol Vis Sci; 2016 Sep 01; 57(11):4837-46. PubMed ID: 27623337
    [Abstract] [Full Text] [Related]

  • 13. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Sep 01; 10(7):e0131679. PubMed ID: 26147992
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  • 14. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr 01; 51(4):2236-42. PubMed ID: 19933189
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  • 15. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
    Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS.
    Mol Vis; 2003 Apr 24; 9():129-37. PubMed ID: 12724644
    [Abstract] [Full Text] [Related]

  • 16. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 24; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 17. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
    Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G.
    J Med Genet; 2021 Aug 24; 58(8):570-578. PubMed ID: 32817297
    [Abstract] [Full Text] [Related]

  • 18. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 24; 30(12):1081-7. PubMed ID: 16354621
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  • 20. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS.
    Int J Mol Med; 2008 Jun 24; 21(6):715-20. PubMed ID: 18506364
    [Abstract] [Full Text] [Related]

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