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Journal Abstract Search

216 related items for PubMed ID: 24504161

  • 1. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
    Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH.
    JAMA Ophthalmol; 2014 Apr 01; 132(4):437-45. PubMed ID: 24504161
    [Abstract] [Full Text] [Related]

  • 2. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
    Yang P, Michaels KV, Courtney RJ, Wen Y, Greninger DA, Reznick L, Karr DJ, Wilson LB, Weleber RG, Pennesi ME.
    JAMA Ophthalmol; 2014 Jul 01; 132(7):823-31. PubMed ID: 24676353
    [Abstract] [Full Text] [Related]

  • 3. Retinal structure and function in achromatopsia: implications for gene therapy.
    Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo CS, Chana R, Davidson AE, Sergouniotis PI, Bainbridge JW, Ali RR, Dubra A, Rubin G, Webster AR, Moore AT, Nardini M, Carroll J, Michaelides M.
    Ophthalmology; 2014 Jan 01; 121(1):234-245. PubMed ID: 24148654
    [Abstract] [Full Text] [Related]

  • 4. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
    Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E, RD-CURE Consortium.
    Invest Ophthalmol Vis Sci; 2017 Feb 01; 58(2):821-832. PubMed ID: 28159970
    [Abstract] [Full Text] [Related]

  • 5. Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.
    Tekavčič Pompe M, Vrabič N, Volk M, Meglič A, Jarc-Vidmar M, Peterlin B, Hawlina M, Fakin A.
    Curr Issues Mol Biol; 2021 Aug 16; 43(2):941-957. PubMed ID: 34449556
    [Abstract] [Full Text] [Related]

  • 6. 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 16; 32(7):1411-9. PubMed ID: 22466470
    [Abstract] [Full Text] [Related]

  • 7. Photoreceptor structure and function in patients with congenital achromatopsia.
    Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.
    Invest Ophthalmol Vis Sci; 2011 Sep 21; 52(10):7298-308. PubMed ID: 21778272
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep 21; 102(6):e893-e905. PubMed ID: 38348755
    [Abstract] [Full Text] [Related]

  • 9. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
    Kuniyoshi K, Muraki-Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A, Tsunoda K, Iwata T, Ohji M, Shimomura Y.
    Jpn J Ophthalmol; 2016 May 21; 60(3):187-97. PubMed ID: 27040408
    [Abstract] [Full Text] [Related]

  • 10. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
    Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D.
    Ophthalmology; 2015 May 21; 122(5):997-1007. PubMed ID: 25616768
    [Abstract] [Full Text] [Related]

  • 11. Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy.
    Sisk RA, Leng T.
    Retina; 2014 Aug 21; 34(8):1567-75. PubMed ID: 24743636
    [Abstract] [Full Text] [Related]

  • 12. Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
    McClintock M, Peden MC, Kay CN.
    Adv Exp Med Biol; 2014 Aug 21; 801():551-7. PubMed ID: 24664743
    [Abstract] [Full Text] [Related]

  • 13. Diagnostic fundus autofluorescence patterns in achromatopsia.
    Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T.
    Am J Ophthalmol; 2013 Dec 21; 156(6):1211-1219.e2. PubMed ID: 23972307
    [Abstract] [Full Text] [Related]

  • 14. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK, Christoffersen NL, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2010 Jan 21; 51(1):89-95. PubMed ID: 19797231
    [Abstract] [Full Text] [Related]

  • 15. Novel CNGA3 mutations in Chinese patients with achromatopsia.
    Liang X, Dong F, Li H, Li H, Yang L, Sui R.
    Br J Ophthalmol; 2015 Apr 21; 99(4):571-6. PubMed ID: 25637600
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
    Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J, ACHM-001 study group.
    Retina; 2017 Oct 03; 37(10):1956-1966. PubMed ID: 28145975
    [Abstract] [Full Text] [Related]

  • 18. Novel causative variants in patients with achromatopsia.
    Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P.
    Ophthalmic Genet; 2018 Dec 03; 39(6):678-683. PubMed ID: 30289319
    [Abstract] [Full Text] [Related]

  • 19. ACUTE ZONAL OCCULT OUTER RETINOPATHY: Structural and Functional Analysis Across the Transition Zone Between Healthy and Diseased Retina.
    Duncker T, Lee W, Jiang F, Ramachandran R, Hood DC, Tsang SH, Sparrow JR, Greenstein VC.
    Retina; 2018 Jan 03; 38(1):118-127. PubMed ID: 28590963
    [Abstract] [Full Text] [Related]

  • 20. MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.
    Schuerch K, Marsiglia M, Lee W, Tsang SH, Sparrow JR.
    Retina; 2016 Dec 03; 36 Suppl 1(Suppl 1):S147-S158. PubMed ID: 28005673
    [Abstract] [Full Text] [Related]

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