These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

269 related items for PubMed ID: 24676353

  • 1. 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; 132(7):823-31. PubMed ID: 24676353
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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]

  • 5. 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 01; 99(4):571-6. PubMed ID: 25637600
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 51(1):89-95. PubMed ID: 19797231
    [Abstract] [Full Text] [Related]

  • 7. A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
    Aweidah H, Salameh M, Yahalom C, Blumenfeld A, Macarov M, Weisschuh N, Kohl S, Banin E, Sharon D.
    Mol Vis; 2021 Jan 01; 27():588-600. PubMed ID: 34703197
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 122(5):997-1007. PubMed ID: 25616768
    [Abstract] [Full Text] [Related]

  • 9. Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
    McClintock M, Peden MC, Kay CN.
    Adv Exp Med Biol; 2014 May 01; 801():551-7. PubMed ID: 24664743
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 60(3):187-97. PubMed ID: 27040408
    [Abstract] [Full Text] [Related]

  • 11. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
    Khan NW, Wissinger B, Kohl S, Sieving PA.
    Invest Ophthalmol Vis Sci; 2007 Aug 01; 48(8):3864-71. PubMed ID: 17652762
    [Abstract] [Full Text] [Related]

  • 12. Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
    Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B.
    JAMA Ophthalmol; 2020 Jun 01; 138(6):643-651. PubMed ID: 32352493
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic characteristics of Danish patients with achromatopsia.
    Andersen MKG, Bertelsen M, Gundestrup S, Grønskov K, Kessel L.
    Acta Ophthalmol; 2024 Sep 01; 102(6):e893-e905. PubMed ID: 38348755
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 37(10):1956-1966. PubMed ID: 28145975
    [Abstract] [Full Text] [Related]

  • 15. Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
    Georgiou M, Litts KM, Kalitzeos A, Langlo CS, Kane T, Singh N, Kassilian M, Hirji N, Kumaran N, Dubra A, Carroll J, Michaelides M.
    Invest Ophthalmol Vis Sci; 2019 Jan 02; 60(1):383-396. PubMed ID: 30682209
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 16; 156(6):1211-1219.e2. PubMed ID: 23972307
    [Abstract] [Full Text] [Related]

  • 18. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
    Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R.
    Mol Vis; 2010 Apr 29; 16():774-81. PubMed ID: 20454696
    [Abstract] [Full Text] [Related]

  • 19. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
    Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.
    Hum Mutat; 2005 Mar 29; 25(3):248-58. PubMed ID: 15712225
    [Abstract] [Full Text] [Related]

  • 20. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
    Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC.
    Ophthalmology; 2010 Apr 29; 117(4):825-30.e1. PubMed ID: 20079539
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 14.