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

303 related items for PubMed ID: 26757501

  • 1. [Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].
    Chouchene I, Largueche L, Derouiche K, Mabrouk S, Abdelhak S, El Matri L.
    Tunis Med; 2015 Jul; 93(7):445-8. PubMed ID: 26757501
    [Abstract] [Full Text] [Related]

  • 2. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun; 45(3):303-312. PubMed ID: 38323530
    [Abstract] [Full Text] [Related]

  • 3. Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.
    Li S, Samardzija M, Yang Z, Grimm C, Jin M.
    J Neurosci; 2016 May 25; 36(21):5808-19. PubMed ID: 27225770
    [Abstract] [Full Text] [Related]

  • 4. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
    Glen WB, Peterseim MMW, Badilla R, Znoyko I, Bourg A, Wilson R, Hardiman G, Wolff D, Martinez J.
    Ophthalmic Genet; 2019 Apr 25; 40(2):110-117. PubMed ID: 30870047
    [Abstract] [Full Text] [Related]

  • 5. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
    Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y.
    Br J Ophthalmol; 2020 Jul 25; 104(7):932-937. PubMed ID: 31630094
    [Abstract] [Full Text] [Related]

  • 6. Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.
    Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.
    PLoS Med; 2007 Jun 25; 4(6):e230. PubMed ID: 17594175
    [Abstract] [Full Text] [Related]

  • 7. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
    Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.
    Klin Monbl Augenheilkd; 2014 Apr 25; 231(4):405-10. PubMed ID: 24771178
    [Abstract] [Full Text] [Related]

  • 8. Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
    Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD.
    Adv Ther; 2022 Mar 25; 39(3):1179-1198. PubMed ID: 35098484
    [Abstract] [Full Text] [Related]

  • 9. RPE65 and retinal dystrophy: Report of new and recurrent mutations.
    Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z, Khorram Khorshid HR, Ghadami M.
    J Gene Med; 2020 Mar 25; 22(3):e3154. PubMed ID: 31957135
    [Abstract] [Full Text] [Related]

  • 10. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
    Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):292-302. PubMed ID: 20811047
    [Abstract] [Full Text] [Related]

  • 11. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
    Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM.
    Ophthalmology; 2010 Jun 05; 117(6):1190-8. PubMed ID: 20079931
    [Abstract] [Full Text] [Related]

  • 12. Gene discovery and prevalence in inherited retinal dystrophies.
    Hamel CP.
    C R Biol; 2014 Mar 05; 337(3):160-6. PubMed ID: 24702842
    [Abstract] [Full Text] [Related]

  • 13. Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
    Motta FL, Martin RP, Porto FBO, Wohler ES, Resende RG, Gomes CP, Pesquero JB, Sallum JMF.
    Genes (Basel); 2019 Dec 24; 11(1):. PubMed ID: 31878136
    [Abstract] [Full Text] [Related]

  • 14. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug 24; 41(9):2735-42. PubMed ID: 10937591
    [Abstract] [Full Text] [Related]

  • 15. Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
    El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL.
    Graefes Arch Clin Exp Ophthalmol; 2006 Sep 24; 244(9):1104-12. PubMed ID: 16518657
    [Abstract] [Full Text] [Related]

  • 16. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
    Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT.
    Br J Ophthalmol; 2016 Nov 24; 100(11):1499-1505. PubMed ID: 26906952
    [Abstract] [Full Text] [Related]

  • 17. Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
    Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME.
    Mol Vis; 2020 Nov 24; 26():423-433. PubMed ID: 32565670
    [Abstract] [Full Text] [Related]

  • 18. Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.
    Trichonas G, Traboulsi EI, Ehlers JP.
    Ophthalmic Genet; 2017 Nov 24; 38(4):320-324. PubMed ID: 27880076
    [Abstract] [Full Text] [Related]

  • 19. Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
    Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S.
    Int J Mol Sci; 2021 Jul 05; 22(13):. PubMed ID: 34281261
    [Abstract] [Full Text] [Related]

  • 20. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
    Lopez-Rodriguez R, Lantero E, Blanco-Kelly F, Avila-Fernandez A, Martin Merida I, Del Pozo-Valero M, Perea-Romero I, Zurita O, Jiménez-Rolando B, Swafiri ST, Riveiro-Alvarez R, Trujillo-Tiebas MJ, Carreño Salas E, García-Sandoval B, Corton M, Ayuso C.
    Exp Eye Res; 2021 Nov 05; 212():108761. PubMed ID: 34492281
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.