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Journal Abstract Search


476 related items for PubMed ID: 23221069

  • 41. Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.
    Alsalloum A, Mosin I, Shefer K, Mingaleva N, Kim A, Feoktistova S, Malyugin B, Boiko E, Sultanov S, Mityaeva O, Volchkov P.
    J Clin Med; 2024 Aug 06; 13(16):. PubMed ID: 39200733
    [Abstract] [Full Text] [Related]

  • 42. CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.
    Kalitzeos A, Samra R, Kasilian M, Tee JJL, Strampe M, Langlo C, Webster AR, Dubra A, Carroll J, Michaelides M.
    Retina; 2019 Mar 06; 39(3):570-580. PubMed ID: 29190250
    [Abstract] [Full Text] [Related]

  • 43. Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.
    Rao NT, Sumaroka A, Santos AJ, Parchinski KM, Weber ML, Maguire AM, Cideciyan AV, Aleman TS.
    Ophthalmic Genet; 2024 Oct 06; 45(5):506-515. PubMed ID: 38956823
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  • 44. Rod and cone function in patients with KCNV2 retinopathy.
    Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H.
    PLoS One; 2012 Oct 06; 7(10):e46762. PubMed ID: 23077521
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  • 45. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.
    Wang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR.
    Doc Ophthalmol; 2012 Dec 06; 125(3):229-33. PubMed ID: 22903242
    [Abstract] [Full Text] [Related]

  • 46. Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
    Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.
    Invest Ophthalmol Vis Sci; 2019 Jun 03; 60(7):2631-2640. PubMed ID: 31237654
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  • 47. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.
    Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A.
    Invest Ophthalmol Vis Sci; 2007 Jul 03; 48(7):3283-91. PubMed ID: 17591900
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  • 48. High-resolution photoreceptor imaging in idiopathic macular telangiectasia type 2 using adaptive optics scanning laser ophthalmoscopy.
    Ooto S, Hangai M, Takayama K, Arakawa N, Tsujikawa A, Koizumi H, Oshima S, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2011 Jul 25; 52(8):5541-50. PubMed ID: 21642620
    [Abstract] [Full Text] [Related]

  • 49. Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
    Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW.
    Ophthalmic Genet; 2021 Jun 25; 42(3):252-265. PubMed ID: 33729075
    [Abstract] [Full Text] [Related]

  • 50. Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy.
    Oishi A, Oishi M, Ogino K, Morooka S, Yoshimura N.
    Adv Exp Med Biol; 2016 Jun 25; 854():307-13. PubMed ID: 26427426
    [Abstract] [Full Text] [Related]

  • 51. Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
    Makiyama Y, Ooto S, Hangai M, Ogino K, Gotoh N, Oishi A, Yoshimura N.
    Am J Ophthalmol; 2014 Mar 25; 157(3):558-70.e1-4. PubMed ID: 24246574
    [Abstract] [Full Text] [Related]

  • 52. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
    Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC.
    Retina; 2012 Jul 25; 32(7):1411-9. PubMed ID: 22466470
    [Abstract] [Full Text] [Related]

  • 53. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
    Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT.
    Br J Ophthalmol; 2005 Mar 25; 89(3):332-9. PubMed ID: 15722315
    [Abstract] [Full Text] [Related]

  • 54. The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2.
    Grigg JR, Holder GE, Billson FA, Korsakova M, Jamieson RV.
    J AAPOS; 2013 Dec 25; 17(6):641-3. PubMed ID: 24210337
    [Abstract] [Full Text] [Related]

  • 55. 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 25; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 56. Rod sensitivity, cone sensitivity, and photoreceptor layer thickness in retinal degenerative diseases.
    Birch DG, Wen Y, Locke K, Hood DC.
    Invest Ophthalmol Vis Sci; 2011 Sep 09; 52(10):7141-7. PubMed ID: 21810977
    [Abstract] [Full Text] [Related]

  • 57. RPGR-associated retinal degeneration in human X-linked RP and a murine model.
    Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2012 Aug 15; 53(9):5594-608. PubMed ID: 22807293
    [Abstract] [Full Text] [Related]

  • 58. Enhanced S-cone function with preserved rod function: a new clinical phenotype.
    Kinori M, Pras E, Kolker A, Ferman-Attar G, Moroz I, Moisseiev J, Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Sharon D, Rotenstreich Y.
    Mol Vis; 2011 Aug 15; 17():2241-7. PubMed ID: 21897746
    [Abstract] [Full Text] [Related]

  • 59. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 15; 35(3):130-7. PubMed ID: 23767994
    [Abstract] [Full Text] [Related]

  • 60. Progressive cone dystrophy associated with mutation in CNGB3.
    Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM.
    Invest Ophthalmol Vis Sci; 2004 Jun 15; 45(6):1975-82. PubMed ID: 15161866
    [Abstract] [Full Text] [Related]


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