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138 related items for PubMed ID: 36128853

  • 1. Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
    Majander A, Sankila EM, Falck A, Vasara LK, Seitsonen S, Kulmala M, Haavisto AK, Avela K, Turunen JA.
    Acta Ophthalmol; 2023 Mar; 101(2):215-221. PubMed ID: 36128853
    [Abstract] [Full Text] [Related]

  • 2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [Abstract] [Full Text] [Related]

  • 3. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP, Marino V, Bethge L, Stingl K, Haack TB, Biskup S, Kohl S, Kühlewein L, Dell'Orco D, Weisschuh N.
    Int J Mol Sci; 2023 Jan 31; 24(3):. PubMed ID: 36769033
    [Abstract] [Full Text] [Related]

  • 4. 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 31; 27(1):19-27. PubMed ID: 23372375
    [Abstract] [Full Text] [Related]

  • 5. 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 31; 130(4):413-422. PubMed ID: 36423731
    [Abstract] [Full Text] [Related]

  • 6. Outer retinal layers as predictors of visual acuity in retinitis pigmentosa: a cross-sectional study.
    Sousa K, Fernandes T, Gentil R, Mendonça L, Falcão M.
    Graefes Arch Clin Exp Ophthalmol; 2019 Feb 31; 257(2):265-271. PubMed ID: 30456418
    [Abstract] [Full Text] [Related]

  • 7. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
    Jacobson SG, Cideciyan AV, Huang WC, Sumaroka A, Roman AJ, Schwartz SB, Luo X, Sheplock R, Dauber JM, Swider M, Stone EM.
    Invest Ophthalmol Vis Sci; 2014 Jul 29; 55(8):5354-64. PubMed ID: 25074776
    [Abstract] [Full Text] [Related]

  • 8. Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
    Subirà O, Català-Mora J, Del Prado C, Díaz-Cascajosa J, Barraso Rodrigo M, Cobos E, Aguilera C, Esteve-Garcia A, García-Arumí J, Caminal JM.
    Graefes Arch Clin Exp Ophthalmol; 2024 Oct 29; 262(10):3375-3384. PubMed ID: 38871877
    [Abstract] [Full Text] [Related]

  • 9. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
    Souzeau E, Thompson JA, McLaren TL, De Roach JN, Barnett CP, Lamey TM, Craig JE.
    Mol Vis; 2018 Oct 29; 24():478-484. PubMed ID: 30090012
    [Abstract] [Full Text] [Related]

  • 10. The qualitative assessment of optical coherence tomography and the central retinal sensitivity in patients with retinitis pigmentosa.
    Hara A, Nakazawa M, Saito M, Suzuki Y.
    PLoS One; 2020 Oct 29; 15(5):e0232700. PubMed ID: 32392207
    [Abstract] [Full Text] [Related]

  • 11. Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
    Testa F, Melillo P, Di Iorio V, Iovino C, Farinaro F, Karali M, Banfi S, Rossi S, Della Corte M, Simonelli F.
    Sci Rep; 2022 Oct 21; 12(1):17637. PubMed ID: 36271235
    [Abstract] [Full Text] [Related]

  • 12. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
    Khan AO, Bergmann C, Eisenberger T, Bolz HJ.
    Br J Ophthalmol; 2015 Apr 21; 99(4):488-92. PubMed ID: 25342276
    [Abstract] [Full Text] [Related]

  • 13. Foveal Hypoplasia in CRB1-Related Retinopathies.
    Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M.
    Int J Mol Sci; 2023 Sep 11; 24(18):. PubMed ID: 37762234
    [Abstract] [Full Text] [Related]

  • 14. Correlating optical coherence tomography biomarkers with visual acuity in nigerian retinitis pigmentosa patients.
    Okonkwo ON, Hassan AO, Ogbedo EN, Akanbi T, Umeh V, Agweye CT.
    Niger J Clin Pract; 2022 Mar 11; 25(3):267-272. PubMed ID: 35295047
    [Abstract] [Full Text] [Related]

  • 15. Multimodal imaging of foveal cavitation in retinal dystrophies.
    Parodi MB, Cicinelli MV, Iacono P, Bolognesi G, Bandello F.
    Graefes Arch Clin Exp Ophthalmol; 2017 Feb 11; 255(2):271-279. PubMed ID: 27491512
    [Abstract] [Full Text] [Related]

  • 16. Predictive value of spectral-domain optical coherence tomography features in assessment of visual prognosis in eyes with acute welding arc maculopathy.
    Zhang C, Dang G, Zhao T, Wang D, Su Y, Qu Y.
    Int Ophthalmol; 2019 May 11; 39(5):1081-1088. PubMed ID: 29651692
    [Abstract] [Full Text] [Related]

  • 17. Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
    Bocquet B, El Alami Trebki H, Roux AF, Labesse G, Brabet P, Arndt C, Zanlonghi X, Defoort-Dhellemmes S, Hamroun D, Boulicot-Séguin C, Lequeux L, Picot MC, Huguet H, Audo I, Dhaenens CM, Kalatzis V, Meunier I.
    Ophthalmol Sci; 2021 Sep 11; 1(3):100052. PubMed ID: 36247817
    [Abstract] [Full Text] [Related]

  • 18. A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa.
    Woodard DR, Xing C, Ganne P, Liang H, Mahindrakar A, Sankurathri C, Hulleman JD, Mootha VV.
    Mol Vis; 2021 Sep 11; 27():179-190. PubMed ID: 33907372
    [Abstract] [Full Text] [Related]

  • 19. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug 11; 40(9):2106-14. PubMed ID: 10440267
    [Abstract] [Full Text] [Related]

  • 20. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov 11; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

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