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241 related items for PubMed ID: 26720468

  • 1. Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
    Zhang AY, Mysore N, Vali H, Koenekoop J, Cao SN, Li S, Ren H, Keser V, Lopez-Solache I, Siddiqui SN, Khan A, Mui J, Sears K, Dixon J, Schwartzentruber J, Majewski J, Braverman N, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8158-65. PubMed ID: 26720468
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 5. 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
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  • 6. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.
    Battu R, Jeyabalan N, Murthy P, Reddy KS, Schouten JS, Webers CA.
    Indian J Ophthalmol; 2016 Dec; 64(12):924-929. PubMed ID: 28112135
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  • 8. Genetic analysis of choroideremia families in the Australian population.
    McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.
    Clin Exp Ophthalmol; 2015 Nov; 43(8):727-34. PubMed ID: 25912515
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  • 9. Choroideremia: molecular mechanisms and therapies.
    Sarkar H, Moosajee M.
    Trends Mol Med; 2022 May; 28(5):378-387. PubMed ID: 35341685
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  • 10. The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
    Simunovic MP, Jolly JK, Xue K, Edwards TL, Groppe M, Downes SM, MacLaren RE.
    Invest Ophthalmol Vis Sci; 2016 Nov 01; 57(14):6033-6039. PubMed ID: 27820636
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  • 11. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
    Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q.
    Int J Mol Med; 2014 Aug 01; 34(2):573-7. PubMed ID: 24913019
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  • 12. Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
    Guo H, Li J, Gao F, Li J, Wu X, Liu Q.
    BMC Ophthalmol; 2015 Jul 28; 15():85. PubMed ID: 26216097
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  • 13. 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 28; 32(12):1460-9. PubMed ID: 21905166
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  • 14. 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
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  • 15. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
    Cunha DL, Richardson R, Tracey-White D, Abbouda A, Mitsios A, Horneffer-van der Sluis V, Takis P, Owen N, Skinner J, Welch AA, Moosajee M.
    JCI Insight; 2021 May 10; 6(9):. PubMed ID: 33755601
    [Abstract] [Full Text] [Related]

  • 16. 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
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  • 17. 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 17; 17(6):7918-7924. PubMed ID: 29620233
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  • 18. Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.
    Raoof N, Vincent AL.
    Clin Exp Ophthalmol; 2017 May 17; 45(4):421-424. PubMed ID: 28097764
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  • 19. 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 17; 125(8):1107-13. PubMed ID: 17698759
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  • 20. Choroidal findings in Bietti's crystalline dystrophy.
    Zerbib J, Ores R, Querques G, Bouzitou-Mfoumou R, Souied EH.
    Retin Cases Brief Rep; 2014 Aug 17; 8(2):130-1. PubMed ID: 25372328
    [Abstract] [Full Text] [Related]

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