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Journal Abstract Search

476 related items for PubMed ID: 23221069

  • 21. 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]

  • 22. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
    Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.
    Ophthalmic Genet; 2007 Sep 17; 28(3):135-42. PubMed ID: 17896311
    [Abstract] [Full Text] [Related]

  • 23. [Supernormal rod response mediated by a novel KCNV2 variant in a cone dystrophy type 3B patient].
    Zhang LJ, Li Y, You Y, Lei B.
    Zhonghua Yan Ke Za Zhi; 2022 May 11; 58(5):376-379. PubMed ID: 35511665
    [Abstract] [Full Text] [Related]

  • 24. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
    Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL.
    Invest Ophthalmol Vis Sci; 2010 Sep 11; 51(9):4771-80. PubMed ID: 20393116
    [Abstract] [Full Text] [Related]

  • 25. Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
    Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S.
    Ophthalmic Genet; 2021 Apr 11; 42(2):144-149. PubMed ID: 33372566
    [Abstract] [Full Text] [Related]

  • 26. Natural history and biomarkers of KCNV2-associated retinopathy.
    Sakti DH, Cornish EE, Ali H, Retsas S, Raza M, Saakova N, Carvalho LS, Nash BM, Jamieson RV, Grigg JR.
    Clin Exp Ophthalmol; 2024 Jul 11; 52(5):528-544. PubMed ID: 38443311
    [Abstract] [Full Text] [Related]

  • 27. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
    Cho SC, Woo SJ, Park KH, Hwang JM.
    Korean J Ophthalmol; 2013 Feb 11; 27(1):19-27. PubMed ID: 23372375
    [Abstract] [Full Text] [Related]

  • 28. Non-syndromic retinitis pigmentosa.
    Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ.
    Prog Retin Eye Res; 2018 Sep 11; 66():157-186. PubMed ID: 29597005
    [Abstract] [Full Text] [Related]

  • 29. Integrity of the cone photoreceptor mosaic in oligocone trichromacy.
    Michaelides M, Rha J, Dees EW, Baraas RC, Wagner-Schuman ML, Mollon JD, Dubis AM, Andersen MK, Rosenberg T, Larsen M, Moore AT, Carroll J.
    Invest Ophthalmol Vis Sci; 2011 Jul 01; 52(7):4757-64. PubMed ID: 21436275
    [Abstract] [Full Text] [Related]

  • 30. Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
    Nasser F, Kempf M, Kurtenbach A, Stöhr H, Weber BHF, Neuhaus C, Rating P, Zrenner E.
    Ophthalmic Res; 2020 Jul 01; 63(2):141-151. PubMed ID: 31927556
    [Abstract] [Full Text] [Related]

  • 31. Fundus autofluorescence, optical coherence tomography and electroretinography abnormalities in a patient with digoxin retinopathy that resemble those in KCNV2-associated retinopathy.
    Nagae Y, Kuniyoshi K, Ishibashi M, Tanabe F, Matsumoto C, Kusaka S.
    Doc Ophthalmol; 2023 Oct 01; 147(2):131-137. PubMed ID: 37460904
    [Abstract] [Full Text] [Related]

  • 32. Wide-field fundus autofluorescence abnormalities and visual function in patients with cone and cone-rod dystrophies.
    Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2014 May 20; 55(6):3572-7. PubMed ID: 24845635
    [Abstract] [Full Text] [Related]

  • 33. Macular cone abnormalities in retinitis pigmentosa with preserved central vision using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y, Ooto S, Hangai M, Takayama K, Uji A, Oishi A, Ogino K, Nakagawa S, Yoshimura N.
    PLoS One; 2013 May 20; 8(11):e79447. PubMed ID: 24260224
    [Abstract] [Full Text] [Related]

  • 34. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
    Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC, Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ.
    Ophthalmology; 2012 Apr 20; 119(4):819-26. PubMed ID: 22264887
    [Abstract] [Full Text] [Related]

  • 35. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369
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  • 36. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
    Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
    Ophthalmology; 2013 Nov 12; 120(11):2338-43. PubMed ID: 23725738
    [Abstract] [Full Text] [Related]

  • 37. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.
    Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE.
    Doc Ophthalmol; 2008 Mar 12; 116(2):79-89. PubMed ID: 17985165
    [Abstract] [Full Text] [Related]

  • 38. 'Cone dystrophy with supranormal rod response' in children.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2012 Mar 12; 96(3):422-6. PubMed ID: 21900228
    [Abstract] [Full Text] [Related]

  • 39. Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.
    Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.
    Invest Ophthalmol Vis Sci; 2019 May 01; 60(6):2347-2356. PubMed ID: 31136651
    [Abstract] [Full Text] [Related]

  • 40. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
    Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Mar 01; 52(3):1557-66. PubMed ID: 21071739
    [Abstract] [Full Text] [Related]

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