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Journal Abstract Search

712 related items for PubMed ID: 25494902

  • 1. 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]

  • 2. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
    Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ.
    Arch Ophthalmol; 2012 Nov 14; 130(11):1425-32. PubMed ID: 23143442
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  • 4. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.
    Arch Iran Med; 2015 Nov 14; 18(11):776-85. PubMed ID: 26497376
    [Abstract] [Full Text] [Related]

  • 5. 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 14; 137(1):47-56. PubMed ID: 30027431
    [Abstract] [Full Text] [Related]

  • 6. Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
    Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E.
    Br J Ophthalmol; 2020 Feb 14; 104(2):173-181. PubMed ID: 31079053
    [Abstract] [Full Text] [Related]

  • 7. 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 14; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 8. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
    Ophthalmology; 2012 Dec 14; 119(12):2616-21. PubMed ID: 22917891
    [Abstract] [Full Text] [Related]

  • 9. BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
    Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S.
    J Med Genet; 2022 May 14; 59(5):438-444. PubMed ID: 33910932
    [Abstract] [Full Text] [Related]

  • 10. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov 14; 34(11):1537-1546. PubMed ID: 23946133
    [Abstract] [Full Text] [Related]

  • 11. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.
    Invest Ophthalmol Vis Sci; 2019 Mar 01; 60(4):1192-1203. PubMed ID: 30913292
    [Abstract] [Full Text] [Related]

  • 12. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
    Ophthalmology; 2014 Aug 01; 121(8):1620-7. PubMed ID: 24697911
    [Abstract] [Full Text] [Related]

  • 13. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
    Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.
    Genet Med; 2019 Jun 01; 21(6):1319-1329. PubMed ID: 30377383
    [Abstract] [Full Text] [Related]

  • 14. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
    Liu X, Xiao J, Huang H, Guan L, Zhao K, Xu Q, Zhang X, Pan X, Gu S, Chen Y, Zhang J, Shen Y, Jiang H, Gao X, Kang X, Sheng X, Chen X, Zhao C.
    JAMA Ophthalmol; 2015 Apr 01; 133(4):427-36. PubMed ID: 25611614
    [Abstract] [Full Text] [Related]

  • 15. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan 01; 33(1):73-80. PubMed ID: 22052604
    [Abstract] [Full Text] [Related]

  • 16. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.
    Mol Vis; 2017 Jan 01; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
    Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.
    Br J Ophthalmol; 2015 Oct 01; 99(10):1360-5. PubMed ID: 25883087
    [Abstract] [Full Text] [Related]

  • 19. Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.
    Li S, Yang M, Liu W, Liu Y, Zhang L, Yang Y, Sundaresan P, Yang Z, Zhu X.
    Genet Test Mol Biomarkers; 2018 Feb 01; 22(2):109-114. PubMed ID: 29425069
    [Abstract] [Full Text] [Related]

  • 20. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Feb 01; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

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