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116 related items for PubMed ID: 38956823

  • 1. 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; 45(5):506-515. PubMed ID: 38956823
    [Abstract] [Full Text] [Related]

  • 2. 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; 42(3):252-265. PubMed ID: 33729075
    [Abstract] [Full Text] [Related]

  • 3. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
    Fuerst NM, Serrano L, Han G, Morgan JI, Maguire AM, Leroy BP, Kim BJ, Aleman TS.
    Ophthalmic Genet; 2016 Dec; 37(4):445-452. PubMed ID: 27028354
    [Abstract] [Full Text] [Related]

  • 4. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):5225-5236. PubMed ID: 30372751
    [Abstract] [Full Text] [Related]

  • 5. Acute Zonal Cone Photoreceptor Outer Segment Loss.
    Aleman TS, Sandhu HS, Serrano LW, Traband A, Lau MK, Adamus G, Avery RA.
    JAMA Ophthalmol; 2017 May 01; 135(5):487-490. PubMed ID: 28384671
    [Abstract] [Full Text] [Related]

  • 6. The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.
    Ying G, Boldt K, Ueffing M, Gerstner CD, Frederick JM, Baehr W.
    J Biol Chem; 2018 Nov 09; 293(45):17546-17558. PubMed ID: 30228185
    [Abstract] [Full Text] [Related]

  • 7. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
    Matsui R, McGuigan Iii DB, Gruzensky ML, Aleman TS, Schwartz SB, Sumaroka A, Koenekoop RK, Cideciyan AV, Jacobson SG.
    Ophthalmic Genet; 2016 Sep 09; 37(3):333-8. PubMed ID: 26854980
    [Abstract] [Full Text] [Related]

  • 8. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.
    O'Neil E, Serrano L, Scoles D, Cunningham KE, Han G, Chiang J, Bennett J, Aleman TS.
    Ophthalmic Genet; 2019 Jun 09; 40(3):267-275. PubMed ID: 31135245
    [Abstract] [Full Text] [Related]

  • 9. DANON DISEASE: A MODEL OF PHOTORECEPTOR DEGENERATION SECONDARY TO PRIMARY RETINAL PIGMENT EPITHELIUM DISEASE.
    O'Neil EC, Uyhazi KE, O'Connor K, Aleman IA, Pulido JS, Rossano JW, Aleman TS.
    Retin Cases Brief Rep; 2022 Nov 01; 16(6):707-713. PubMed ID: 36288619
    [Abstract] [Full Text] [Related]

  • 10. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
    Cho SC, Woo SJ, Park KH, Hwang JM.
    Korean J Ophthalmol; 2013 Feb 01; 27(1):19-27. PubMed ID: 23372375
    [Abstract] [Full Text] [Related]

  • 11. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
    Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L.
    Acta Ophthalmol; 2018 Jun 01; 96(4):e445-e454. PubMed ID: 29193673
    [Abstract] [Full Text] [Related]

  • 12. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
    Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.
    Am J Ophthalmol; 2015 Aug 01; 160(2):364-372.e1. PubMed ID: 25982971
    [Abstract] [Full Text] [Related]

  • 13. NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.
    Bedoukian EC, Zhu X, Serrano LW, Scoles D, Aleman TS.
    Retin Cases Brief Rep; 2022 May 01; 16(3):385-392. PubMed ID: 32150116
    [Abstract] [Full Text] [Related]

  • 14. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
    Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M.
    Ophthalmology; 2023 Apr 01; 130(4):413-422. PubMed ID: 36423731
    [Abstract] [Full Text] [Related]

  • 15. Wide-field fundus autofluorescence abnormalities and visual function in patients with cone and cone-rod dystrophies.
    Oishi M, Oishi A, Ogino K, Makiyama Y, Gotoh N, Kurimoto M, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2014 May 20; 55(6):3572-7. PubMed ID: 24845635
    [Abstract] [Full Text] [Related]

  • 16. Multimodal imaging and multifocal electroretinography demonstrate autosomal recessive Stargardt disease may present like occult macular dystrophy.
    Sisk RA, Leng T.
    Retina; 2014 Aug 20; 34(8):1567-75. PubMed ID: 24743636
    [Abstract] [Full Text] [Related]

  • 17. Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.
    Aleman TS, Han G, Serrano LW, Fuerst NM, Charlson ES, Pearson DJ, Chung DC, Traband A, Pan W, Ying GS, Bennett J, Maguire AM, Morgan JI.
    Ophthalmology; 2017 Mar 20; 124(3):359-373. PubMed ID: 27986385
    [Abstract] [Full Text] [Related]

  • 18. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
    Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Mar 01; 52(3):1557-66. PubMed ID: 21071739
    [Abstract] [Full Text] [Related]

  • 19. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V, Burés-Jelstrup A, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcóstegui B, Pomares E.
    Exp Eye Res; 2019 Oct 01; 187():107752. PubMed ID: 31394102
    [Abstract] [Full Text] [Related]

  • 20. Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
    Schroeder M, Kjellström U.
    Mol Vis; 2018 Oct 01; 24():1-16. PubMed ID: 29386879
    [Abstract] [Full Text] [Related]

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