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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 30516820)

  • 1. Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.
    Sumaroka A; Garafalo AV; Cideciyan AV; Charng J; Roman AJ; Choi W; Saxena S; Aksianiuk V; Kohl S; Wissinger B; Jacobson SG
    Invest Ophthalmol Vis Sci; 2018 Dec; 59(15):5762-5772. PubMed ID: 30516820
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
    Carroll J; Dubra A; Gardner JC; Mizrahi-Meissonnier L; Cooper RF; Dubis AM; Nordgren R; Genead M; Connor TB; Stepien KE; Sharon D; Hunt DM; Banin E; Hardcastle AJ; Moore AT; Williams DR; Fishman G; Neitz J; Neitz M; Michaelides M
    Invest Ophthalmol Vis Sci; 2012 Dec; 53(13):8006-15. PubMed ID: 23139274
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.
    Luo X; Cideciyan AV; Iannaccone A; Roman AJ; Ditta LC; Jennings BJ; Yatsenko SA; Sheplock R; Sumaroka A; Swider M; Schwartz SB; Wissinger B; Kohl S; Jacobson SG
    PLoS One; 2015; 10(4):e0125700. PubMed ID: 25909963
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gene Therapy in
    Ma X; Sechrest ER; Fajardo D; Zhu P; Dyka F; Wang Y; Lobanova E; Boye SE; Baehr W; Deng WT
    Hum Gene Ther; 2022 Jul; 33(13-14):708-718. PubMed ID: 35272502
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
    Mizrahi-Meissonnier L; Merin S; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):3884-92. PubMed ID: 20220053
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Blue cone monochromacy: causative mutations and associated phenotypes.
    Gardner JC; Michaelides M; Holder GE; Kanuga N; Webb TR; Mollon JD; Moore AT; Hardcastle AJ
    Mol Vis; 2009; 15():876-84. PubMed ID: 19421413
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.
    Sechrest ER; Ma X; Cahill ME; Barbera RJ; Wang Y; Deng WT
    JCI Insight; 2024 Jan; 9(2):. PubMed ID: 38060327
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
    Garafalo AV; Calzetti G; Cideciyan AV; Roman AJ; Saxena S; Sumaroka A; Choi W; Wright AF; Jacobson SG
    Invest Ophthalmol Vis Sci; 2018 Jul; 59(8):3209-3219. PubMed ID: 29971438
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.
    Michaelides M; Johnson S; Simunovic MP; Bradshaw K; Holder G; Mollon JD; Moore AT; Hunt DM
    Eye (Lond); 2005 Jan; 19(1):2-10. PubMed ID: 15094734
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
    Cideciyan AV; Hufnagel RB; Carroll J; Sumaroka A; Luo X; Schwartz SB; Dubra A; Land M; Michaelides M; Gardner JC; Hardcastle AJ; Moore AT; Sisk RA; Ahmed ZM; Kohl S; Wissinger B; Jacobson SG
    Hum Gene Ther; 2013 Dec; 24(12):993-1006. PubMed ID: 24067079
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence.
    Sumaroka A; Cideciyan AV; Sheplock R; Wu V; Kohl S; Wissinger B; Jacobson SG
    Front Neurosci; 2020; 14():800. PubMed ID: 32848570
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 121(1):234-245. PubMed ID: 24148654
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
    Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
    Deng WT; Li J; Zhu P; Chiodo VA; Smith WC; Freedman B; Baehr W; Pang J; Hauswirth WW
    Mol Vis; 2018; 24():17-28. PubMed ID: 29386880
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
    Kellner U; Wissinger B; Tippmann S; Kohl S; Kraus H; Foerster MH
    Graefes Arch Clin Exp Ophthalmol; 2004 Sep; 242(9):729-35. PubMed ID: 15069569
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
    Buena-Atienza E; Nasser F; Kohl S; Wissinger B
    BMC Med Genet; 2018 Jun; 19(1):107. PubMed ID: 29940872
    [TBL] [Abstract][Full Text] [Related]  

  • 18. S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.
    Righetti G; Kempf M; Kohl S; Wissinger B; Kühlewein L; Stingl K; Stingl K
    Doc Ophthalmol; 2024 Aug; 149(1):11-21. PubMed ID: 38871951
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Blue cone monochromacy and gene therapy.
    Sechrest ER; Chmelik K; Tan WD; Deng WT
    Vision Res; 2023 Jul; 208():108221. PubMed ID: 37001420
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene conversion between red and defective green opsin gene in blue cone monochromacy.
    Reyniers E; Van Thienen MN; Meire F; De Boulle K; Devries K; Kestelijn P; Willems PJ
    Genomics; 1995 Sep; 29(2):323-8. PubMed ID: 8666378
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.