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172 related items for PubMed ID: 33573424

  • 1. Chronic untreated retinal detachment in a patient with choroideremia provides insight into the disease process and potential therapy.
    Martin-Gutierrez MP, Buckley TM, MacLaren RE.
    Eur J Ophthalmol; 2022 Jul; 32(4):NP30-NP33. PubMed ID: 33573424
    [Abstract] [Full Text] [Related]

  • 2. Atypical choroideremia presenting with early-onset macular atrophy.
    Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM.
    Acta Ophthalmol; 2019 Sep; 97(6):633-636. PubMed ID: 30690895
    [Abstract] [Full Text] [Related]

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  • 4. Choroideremia: molecular mechanisms and therapies.
    Sarkar H, Moosajee M.
    Trends Mol Med; 2022 May; 28(5):378-387. PubMed ID: 35341685
    [Abstract] [Full Text] [Related]

  • 5. CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice.
    Tolmachova T, Tolmachov OE, Wavre-Shapton ST, Tracey-White D, Futter CE, Seabra MC.
    J Gene Med; 2012 Mar; 14(3):158-68. PubMed ID: 22228595
    [Abstract] [Full Text] [Related]

  • 6. Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
    Ong T, Pennesi ME, Birch DG, Lam BL, Tsang SH.
    Pharm Res; 2019 Jan 07; 36(2):34. PubMed ID: 30617669
    [Abstract] [Full Text] [Related]

  • 7. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.
    Tolmachova T, Tolmachov OE, Barnard AR, de Silva SR, Lipinski DM, Walker NJ, Maclaren RE, Seabra MC.
    J Mol Med (Berl); 2013 Jul 07; 91(7):825-37. PubMed ID: 23756766
    [Abstract] [Full Text] [Related]

  • 8. VASCULAR ALTERATIONS REVEALED WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH CHOROIDEREMIA.
    Battaglia Parodi M, Arrigo A, MacLaren RE, Aragona E, Toto L, Mastropasqua R, Manitto MP, Bandello F.
    Retina; 2019 Jun 07; 39(6):1200-1205. PubMed ID: 29543633
    [Abstract] [Full Text] [Related]

  • 9. Choroideremia: a review of general findings and pathogenesis.
    Coussa RG, Traboulsi EI.
    Ophthalmic Genet; 2012 Jun 07; 33(2):57-65. PubMed ID: 22017263
    [Abstract] [Full Text] [Related]

  • 10. Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
    Sarkar H, Tracey-White D, Hagag AM, Burgoyne T, Nair N, Jensen LD, Edwards MM, Moosajee M.
    Biochim Biophys Acta Mol Basis Dis; 2024 Feb 07; 1870(2):166963. PubMed ID: 37989423
    [Abstract] [Full Text] [Related]

  • 11. Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
    Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V.
    Hum Mol Genet; 2017 Sep 15; 26(18):3573-3584. PubMed ID: 28911202
    [Abstract] [Full Text] [Related]

  • 12. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.
    Di Giosaffatte N, Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A, Bottillo I, Grammatico P.
    Genes (Basel); 2022 Jul 17; 13(7):. PubMed ID: 35886051
    [Abstract] [Full Text] [Related]

  • 13. Choroideremia: molecular mechanisms and development of AAV gene therapy.
    Patrício MI, Barnard AR, Xue K, MacLaren RE.
    Expert Opin Biol Ther; 2018 Jul 17; 18(7):807-820. PubMed ID: 29932012
    [Abstract] [Full Text] [Related]

  • 14. Gene therapy for choroideremia using an adeno-associated viral (AAV) vector.
    Barnard AR, Groppe M, MacLaren RE.
    Cold Spring Harb Perspect Med; 2014 Oct 30; 5(3):a017293. PubMed ID: 25359548
    [Abstract] [Full Text] [Related]

  • 15. Modeling Choroideremia Disease with Isogenic Induced Pluripotent Stem Cells.
    Fonseca AF, Coelho R, da-Silva ML, Lemos L, Hall MJ, Oliveira D, Falcão AS, Tenreiro S, Seabra MC, Antas P.
    Stem Cells Dev; 2024 Oct 30; 33(19-20):528-539. PubMed ID: 39078329
    [Abstract] [Full Text] [Related]

  • 16. Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia.
    Toualbi L, Toms M, Almeida PV, Harbottle R, Moosajee M.
    Int J Mol Sci; 2023 Oct 16; 24(20):. PubMed ID: 37894906
    [Abstract] [Full Text] [Related]

  • 17. 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 16; 255(11):2099-2111. PubMed ID: 28752371
    [Abstract] [Full Text] [Related]

  • 18. Choroideremia: The Endpoint Endgame.
    Abdalla Elsayed MEA, Taylor LJ, Josan AS, Fischer MD, MacLaren RE.
    Int J Mol Sci; 2023 Sep 20; 24(18):. PubMed ID: 37762657
    [Abstract] [Full Text] [Related]

  • 19. CHOROIDEREMIA: Retinal Degeneration With an Unmet Need.
    Pennesi ME, Birch DG, Duncan JL, Bennett J, Girach A.
    Retina; 2019 Nov 20; 39(11):2059-2069. PubMed ID: 31021898
    [Abstract] [Full Text] [Related]

  • 20. A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
    Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L.
    Mol Med Rep; 2018 Jun 20; 17(6):7918-7924. PubMed ID: 29620233
    [Abstract] [Full Text] [Related]

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