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336 related items for PubMed ID: 10369267

  • 1. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
    Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.
    Nat Genet; 1999 Jun; 22(2):199-202. PubMed ID: 10369267
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  • 2. Analysis of the EFEMP1 gene in individuals and families with early onset drusen.
    Narendran N, Guymer RH, Cain M, Baird PN.
    Eye (Lond); 2005 Jan; 19(1):11-5. PubMed ID: 15218514
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  • 7. Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
    Hulleman JD.
    Adv Exp Med Biol; 2016 Jan; 854():153-8. PubMed ID: 26427406
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  • 8. Malattia leventinese/Doyne honeycomb retinal dystrophy in a chinese family with mutation of the EFEMP1 gene.
    Zhang T, Xie X, Cao G, Jiang H, Wu S, Su Z, Zhang K, Lu F.
    Retina; 2014 Dec; 34(12):2462-71. PubMed ID: 25111685
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  • 9. [Fundus autofluorescence in patients with hereditary macular dystrophies, malattia leventinese, familial dominant and aged-related drusen].
    von Rückmann A, Schmidt KG, Fitzke FW, Bird AC, Jacobi KW.
    Klin Monbl Augenheilkd; 1998 Aug; 213(2):81-6. PubMed ID: 9782465
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  • 10. Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.
    Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA.
    Hum Mol Genet; 2014 Jan 01; 23(1):52-68. PubMed ID: 23943789
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  • 11. Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
    Michaelides M, Jenkins SA, Brantley MA, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
    Invest Ophthalmol Vis Sci; 2006 Jul 01; 47(7):3085-97. PubMed ID: 16799055
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  • 12. Drusen in patient-derived hiPSC-RPE models of macular dystrophies.
    Galloway CA, Dalvi S, Hung SSC, MacDonald LA, Latchney LR, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung MM, Gamm DM, Pébay A, Hewitt AW, Singh R.
    Proc Natl Acad Sci U S A; 2017 Sep 26; 114(39):E8214-E8223. PubMed ID: 28878022
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  • 13. Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.
    Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF.
    Retina; 2015 Jan 26; 35(1):48-57. PubMed ID: 25077532
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  • 14. EFEMP1 is not associated with sporadic early onset drusen.
    Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH.
    Ophthalmic Genet; 2001 Mar 26; 22(1):27-34. PubMed ID: 11262647
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  • 15. [Optical coherence tomography in Malattia Leventinese].
    Gaillard MC, Wolfensberger TJ, Uffer S, Mantel I, Pournaras JA, Schorderet DF, Munier FL.
    Klin Monbl Augenheilkd; 2005 Mar 26; 222(3):180-5. PubMed ID: 15785976
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  • 16. A New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel EFEMP1 Pathogenic Variant.
    Chacon-Camacho OF, Ordaz-Robles T, Cid-García MA, Yepes-Rodríguez O, Arce-González R, Martínez-Aguilar A, Zenteno JC.
    Am J Med Genet A; 2025 Jan 26; 197(1):e63869. PubMed ID: 39264138
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  • 17. Dominant radial drusen and Arg345Trp EFEMP1 mutation.
    Matsumoto M, Traboulsi EI.
    Am J Ophthalmol; 2001 Jun 26; 131(6):810-2. PubMed ID: 11384588
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  • 18. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
    Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
    Proc Natl Acad Sci U S A; 2002 Oct 01; 99(20):13067-72. PubMed ID: 12242346
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  • 19. First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.
    Sheyanth IN, Lolas IB, Okkels H, Kiruparajan LP, Abildgaard SK, Petersen MB.
    Mol Genet Genomic Med; 2021 Apr 01; 9(4):e1652. PubMed ID: 33689237
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  • 20. Multimodal morphological and functional characterization of Malattia Leventinese.
    Querques G, Guigui B, Leveziel N, Querques L, Bandello F, Souied EH.
    Graefes Arch Clin Exp Ophthalmol; 2013 Mar 01; 251(3):705-14. PubMed ID: 22814526
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