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Journal Abstract Search

339 related items for PubMed ID: 16936131

  • 1. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
    Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):4113-20. PubMed ID: 16936131
    [Abstract] [Full Text] [Related]

  • 2. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.
    Tolmachova T, Anders R, Abrink M, Bugeon L, Dallman MJ, Futter CE, Ramalho JS, Tonagel F, Tanimoto N, Seeliger MW, Huxley C, Seabra MC.
    J Clin Invest; 2006 Feb; 116(2):386-94. PubMed ID: 16410831
    [Abstract] [Full Text] [Related]

  • 3. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.
    Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A.
    Arch Ophthalmol; 2007 Aug; 125(8):1107-13. PubMed ID: 17698759
    [Abstract] [Full Text] [Related]

  • 4. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
    Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH.
    Ophthalmology; 2001 Apr; 108(4):711-20. PubMed ID: 11297488
    [Abstract] [Full Text] [Related]

  • 5. Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
    Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S.
    Graefes Arch Clin Exp Ophthalmol; 2017 Nov; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 6. A practical diagnostic test for choroideremia.
    MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC.
    Ophthalmology; 1998 Sep; 105(9):1637-40. PubMed ID: 9754170
    [Abstract] [Full Text] [Related]

  • 7. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
    van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP.
    Hum Mutat; 1997 Sep; 9(2):110-7. PubMed ID: 9067750
    [Abstract] [Full Text] [Related]

  • 8.
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    [No Abstract] [Full Text] [Related]

  • 9. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.
    Hayakawa M, Fujiki K, Hotta Y, Ito R, Ohki J, Ono J, Saito A, Nakayasu K, Kanai A, Ishidoh K, Kominami E, Yoshida K, Kim KC, Ohashi H.
    Ophthalmic Genet; 1999 Jun; 20(2):107-15. PubMed ID: 10420196
    [Abstract] [Full Text] [Related]

  • 10. Spatial and temporal expression patterns of the choroideremia gene in the mouse retina.
    Keiser NW, Tang W, Wei Z, Bennett J.
    Mol Vis; 2005 Dec 07; 11():1052-60. PubMed ID: 16357828
    [Abstract] [Full Text] [Related]

  • 11. Multimodal Imaging of Photoreceptor Structure in Choroideremia.
    Sun LW, Johnson RD, Williams V, Summerfelt P, Dubra A, Weinberg DV, Stepien KE, Fishman GA, Carroll J.
    PLoS One; 2016 Dec 07; 11(12):e0167526. PubMed ID: 27936069
    [Abstract] [Full Text] [Related]

  • 12. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.
    Preising M, Ayuso C.
    Ophthalmic Genet; 2004 Jun 07; 25(2):101-10. PubMed ID: 15370541
    [Abstract] [Full Text] [Related]

  • 13. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
    Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.
    Invest Ophthalmol Vis Sci; 2009 Jun 07; 50(6):3009-16. PubMed ID: 19117920
    [Abstract] [Full Text] [Related]

  • 14. Choroideremia: molecular mechanisms and development of AAV gene therapy.
    Patrício MI, Barnard AR, Xue K, MacLaren RE.
    Expert Opin Biol Ther; 2018 Jul 07; 18(7):807-820. PubMed ID: 29932012
    [Abstract] [Full Text] [Related]

  • 15. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.
    Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U.
    Arch Ophthalmol; 2009 Jul 07; 127(7):907-12. PubMed ID: 19597113
    [Abstract] [Full Text] [Related]

  • 16. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
    Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.
    Hum Mutat; 2011 Dec 07; 32(12):1460-9. PubMed ID: 21905166
    [Abstract] [Full Text] [Related]

  • 17. Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
    Raeker MÖ, Perera ND, Karoukis AJ, Chen L, Feathers KL, Ali RR, Thompson DA, Fahim AT.
    Cells; 2024 Jun 19; 13(12):. PubMed ID: 38920696
    [Abstract] [Full Text] [Related]

  • 18. Regional expression of disease-related genes in human and monkey retina.
    Bernstein SL, Wong P.
    Mol Vis; 1998 Nov 05; 4():24. PubMed ID: 9815288
    [Abstract] [Full Text] [Related]

  • 19. Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
    Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG.
    Arch Ophthalmol; 2005 Aug 05; 123(8):1146-9. PubMed ID: 16087855
    [No Abstract] [Full Text] [Related]

  • 20. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
    van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.
    Hum Genet; 2003 Aug 05; 113(3):268-75. PubMed ID: 12827496
    [Abstract] [Full Text] [Related]

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