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Journal Abstract Search

376 related items for PubMed ID: 30324420

  • 1. Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
    Murro V, Mucciolo DP, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2019 Jan; 257(1):9-22. PubMed ID: 30324420
    [Abstract] [Full Text] [Related]

  • 2. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT.
    JAMA Ophthalmol; 2014 Nov; 132(11):1341-9. PubMed ID: 25079116
    [Abstract] [Full Text] [Related]

  • 5. Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
    Minnella AM, Pagliei V, Savastano MC, Federici M, Bertelli M, Maltese PE, Placidi G, Corbo G, Falsini B, Caporossi A.
    J Med Case Rep; 2018 Oct 03; 12(1):287. PubMed ID: 30285900
    [Abstract] [Full Text] [Related]

  • 6. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
    Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y.
    Jpn J Ophthalmol; 2016 Nov 03; 60(6):476-485. PubMed ID: 27522502
    [Abstract] [Full Text] [Related]

  • 7. Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.
    Trichonas G, Traboulsi EI, Ehlers JP.
    Ophthalmic Genet; 2017 Nov 03; 38(4):320-324. PubMed ID: 27880076
    [Abstract] [Full Text] [Related]

  • 8. Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
    Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM.
    Genes (Basel); 2020 Oct 29; 11(11):. PubMed ID: 33138239
    [Abstract] [Full Text] [Related]

  • 9. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
    Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT.
    Br J Ophthalmol; 2016 Nov 29; 100(11):1499-1505. PubMed ID: 26906952
    [Abstract] [Full Text] [Related]

  • 10. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D.
    Acta Ophthalmol; 2015 Jun 29; 93(4):e281-6. PubMed ID: 25429852
    [Abstract] [Full Text] [Related]

  • 11. A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
    Rocha-Sousa A, Hayashi T, Gomes NL, Penas S, Brandão E, Rocha P, Urashima M, Yamada H, Tsuneoka H, Falcão-Reis F.
    Graefes Arch Clin Exp Ophthalmol; 2011 Feb 29; 249(2):201-8. PubMed ID: 20725840
    [Abstract] [Full Text] [Related]

  • 12. Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
    de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF.
    Ophthalmology; 2013 Dec 29; 120(12):2684-2696. PubMed ID: 23806424
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
    Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A.
    Mol Vis; 2014 Dec 29; 20():724-31. PubMed ID: 24891813
    [Abstract] [Full Text] [Related]

  • 14. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
    Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born LI, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR.
    Invest Ophthalmol Vis Sci; 2016 Sep 01; 57(11):4806-13. PubMed ID: 27623334
    [Abstract] [Full Text] [Related]

  • 15. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R.
    Retina; 2019 Oct 01; 39(10):2040-2052. PubMed ID: 30134391
    [Abstract] [Full Text] [Related]

  • 16. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT.
    Invest Ophthalmol Vis Sci; 2015 Apr 01; 56(4):2358-65. PubMed ID: 25766589
    [Abstract] [Full Text] [Related]

  • 17. Phenotypic features of patients with NR2E3 mutations.
    Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA.
    Arch Ophthalmol; 2009 Jan 01; 127(1):71-5. PubMed ID: 19139342
    [Abstract] [Full Text] [Related]

  • 18. Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.
    Mucciolo DP, Murro V, Sodi A, Passerini I, Giorgio D, Virgili G, Rizzo S.
    Ophthalmologica; 2019 Jan 01; 242(4):195-207. PubMed ID: 31416074
    [Abstract] [Full Text] [Related]

  • 19. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR.
    JAMA Ophthalmol; 2016 Sep 01; 134(9):992-1000. PubMed ID: 27386845
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

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