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Journal Abstract Search

475 related items for PubMed ID: 23806424

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

  • 2. Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
    Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI.
    Doc Ophthalmol; 2019 Apr; 138(2):147-152. PubMed ID: 30701423
    [Abstract] [Full Text] [Related]

  • 3. Dominant cystoid macular dystrophy.
    Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ.
    Ophthalmology; 2015 Jan; 122(1):180-91. PubMed ID: 25267528
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
    Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM.
    Ophthalmology; 1999 Jun; 106(6):1101-8. PubMed ID: 10366077
    [Abstract] [Full Text] [Related]

  • 7. 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; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 8. Early-onset stargardt disease: phenotypic and genotypic characteristics.
    Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.
    Ophthalmology; 2015 Feb; 122(2):335-44. PubMed ID: 25444351
    [Abstract] [Full Text] [Related]

  • 9. Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.
    Oishi N, Kubota D, Nakamoto K, Takeda Y, Hayashi M, Gocho K, Yamaki K, Igarashi T, Takahashi H, Kameya S.
    Ophthalmic Genet; 2021 Jun; 42(3):304-311. PubMed ID: 33541179
    [Abstract] [Full Text] [Related]

  • 10. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
    [Abstract] [Full Text] [Related]

  • 11. Serous Retinopathy Associated with Mitogen-Activated Protein Kinase Kinase Inhibition (Binimetinib) for Metastatic Cutaneous and Uveal Melanoma.
    van Dijk EH, van Herpen CM, Marinkovic M, Haanen JB, Amundson D, Luyten GP, Jager MJ, Kapiteijn EH, Keunen JE, Adamus G, Boon CJ.
    Ophthalmology; 2015 Sep 29; 122(9):1907-16. PubMed ID: 26123090
    [Abstract] [Full Text] [Related]

  • 12. Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease.
    Chen Y, Ratnam K, Sundquist SM, Lujan B, Ayyagari R, Gudiseva VH, Roorda A, Duncan JL.
    Invest Ophthalmol Vis Sci; 2011 May 17; 52(6):3281-92. PubMed ID: 21296825
    [Abstract] [Full Text] [Related]

  • 13. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.
    Ophthalmology; 2009 Jun 17; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [Abstract] [Full Text] [Related]

  • 14. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
    Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S.
    Ophthalmology; 2023 Apr 17; 130(4):423-432. PubMed ID: 36332842
    [Abstract] [Full Text] [Related]

  • 15. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
    Kubota D, Gocho K, Akeo K, Kikuchi S, Sugahara M, Matsumoto CS, Shinoda K, Mizota A, Yamaki K, Takahashi H, Kameya S.
    Doc Ophthalmol; 2016 Jun 17; 132(3):233-43. PubMed ID: 27071392
    [Abstract] [Full Text] [Related]

  • 16. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
    Heath Jeffery RC, Thompson JA, Lo J, Chelva ES, Armstrong S, Pulido JS, Procopio R, Vincent AL, Bianco L, Battaglia Parodi M, Ziccardi L, Antonelli G, Barbano L, Marques JP, Geada S, Carvalho AL, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Borooah S, Ayton LN, Britten-Jones AC, Edwards TL, Ruddle JB, Sharma A, Porter RG, Lamey TM, McLaren TL, McLenachan S, Roshandel D, Chen FK.
    Invest Ophthalmol Vis Sci; 2024 May 01; 65(5):22. PubMed ID: 38743414
    [Abstract] [Full Text] [Related]

  • 17. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
    Toto L, Boon CJ, Di Antonio L, Battaglia Parodi M, Mastropasqua R, Antonucci I, Stuppia L, Mastropasqua L.
    Retina; 2016 Aug 01; 36(8):1586-95. PubMed ID: 26716959
    [Abstract] [Full Text] [Related]

  • 18. Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.
    Parodi MB, Iacono P, Del Turco C, Bandello F.
    Am J Ophthalmol; 2014 Dec 01; 158(6):1247-1252.e2. PubMed ID: 25174897
    [Abstract] [Full Text] [Related]

  • 19. Central areolar choroidal dystrophy.
    Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB.
    Ophthalmology; 2009 Apr 01; 116(4):771-82, 782.e1. PubMed ID: 19243827
    [Abstract] [Full Text] [Related]

  • 20. Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
    de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA.
    J Inherit Metab Dis; 2012 Nov 01; 35(6):1059-69. PubMed ID: 22403016
    [Abstract] [Full Text] [Related]

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