BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 30578501)

  • 1. Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).
    Tsang SH; Sharma T
    Adv Exp Med Biol; 2018; 1085():153-156. PubMed ID: 30578501
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Topography of cone electrophysiology in the enhanced S cone syndrome.
    Marmor MF; Tan F; Sutter EE; Bearse MA
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1866-73. PubMed ID: 10393063
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome.
    Sohn EH; Chen FK; Rubin GS; Moore AT; Webster AR; MacLaren RE
    Ophthalmology; 2010 Jun; 117(6):1199-1206.e1. PubMed ID: 20171741
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic variation in enhanced S-cone syndrome.
    Audo I; Michaelides M; Robson AG; Hawlina M; Vaclavik V; Sandbach JM; Neveu MM; Hogg CR; Hunt DM; Moore AT; Bird AC; Webster AR; Holder GE
    Invest Ophthalmol Vis Sci; 2008 May; 49(5):2082-93. PubMed ID: 18436841
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and molecular characterization of enhanced S-cone syndrome in children.
    Hull S; Arno G; Sergouniotis PI; Tiffin P; Borman AD; Chandra A; Robson AG; Holder GE; Webster AR; Moore AT
    JAMA Ophthalmol; 2014 Nov; 132(11):1341-9. PubMed ID: 25079116
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.
    Collison FT; Park JC; Fishman GA; Stone EM; McAnany JJ
    Doc Ophthalmol; 2016 Jun; 132(3):157-66. PubMed ID: 27033713
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Enhanced S-cone syndrome: Clinical spectrum in Indian population.
    Naik A; Ratra D; Banerjee A; Dalan D; Jandyal S; Rao G; Sen P; Bhende M; Jayaprakash V; Susvar P; Walinjkar J; Rao C
    Indian J Ophthalmol; 2019 Apr; 67(4):523-529. PubMed ID: 30900587
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
    Sustar M; Perovšek D; Cima I; Stirn-Kranjc B; Hawlina M; Brecelj J
    Doc Ophthalmol; 2015 Jun; 130(3):165-77. PubMed ID: 25663266
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation (Cys83Tyr) in the second zinc finger of NR2E3 in enhanced S-cone syndrome.
    Rocha-Sousa A; Hayashi T; Gomes NL; Penas S; Brandão E; Rocha P; Urashima M; Yamada H; Tsuneoka H; Falcão-Reis F
    Graefes Arch Clin Exp Ophthalmol; 2011 Feb; 249(2):201-8. PubMed ID: 20725840
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human S-cone electroretinograms obtained by silent substitution stimulation.
    Maguire J; Parry NRA; Kremers J; Murray IJ; McKeefry D
    J Opt Soc Am A Opt Image Sci Vis; 2018 Apr; 35(4):B11-B18. PubMed ID: 29603933
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways.
    Ripamonti C; Aboshiha J; Henning GB; Sergouniotis PI; Michaelides M; Moore AT; Webster AR; Stockman A
    Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):963-76. PubMed ID: 24425859
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.
    Park SP; Hong IH; Tsang SH; Lee W; Horowitz J; Yzer S; Allikmets R; Chang S
    Graefes Arch Clin Exp Ophthalmol; 2013 Oct; 251(10):2299-309. PubMed ID: 23604511
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanded clinical spectrum of enhanced S-cone syndrome.
    Yzer S; Barbazetto I; Allikmets R; van Schooneveld MJ; Bergen A; Tsang SH; Jacobson SG; Yannuzzi LA
    JAMA Ophthalmol; 2013 Oct; 131(10):1324-30. PubMed ID: 23989059
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
    Kuniyoshi K; Hayashi T; Sakuramoto H; Mishima H; Tsuneoka H; Tsunoda K; Iwata T; Shimomura Y
    Jpn J Ophthalmol; 2016 Nov; 60(6):476-485. PubMed ID: 27522502
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report.
    Minnella AM; Pagliei V; Savastano MC; Federici M; Bertelli M; Maltese PE; Placidi G; Corbo G; Falsini B; Caporossi A
    J Med Case Rep; 2018 Oct; 12(1):287. PubMed ID: 30285900
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Relatively enhanced S cone function in the Goldmann-Favre syndrome.
    Jacobson SG; Román AJ; Román MI; Gass JD; Parker JA
    Am J Ophthalmol; 1991 Apr; 111(4):446-53. PubMed ID: 2012146
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long-term preservation of cone photoreceptors and visual acuity in rd10 mutant mice exposed to continuous environmental enrichment.
    Barone I; Novelli E; Strettoi E
    Mol Vis; 2014; 20():1545-56. PubMed ID: 25489227
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Enhanced S-cone Syndrome, a Mini-review.
    Wang Y; Wong J; Duncan JL; Roorda A; Tuten WS
    Adv Exp Med Biol; 2023; 1415():189-194. PubMed ID: 37440033
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
    Cima I; Brecelj J; Sustar M; Coppieters F; Leroy BP; De Baere E; Hawlina M
    Doc Ophthalmol; 2012 Oct; 125(2):161-8. PubMed ID: 22711506
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.