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120 related items for PubMed ID: 9450854

  • 1. Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.
    Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A.
    Am J Med Genet; 1998 Jan 06; 75(1):35-9. PubMed ID: 9450854
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  • 2. Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.
    Mehta JS, Vithana EN, Venkataraman D, Venkatraman A, Poh R, Beuerman RW, Aung T, Tan DT.
    Mol Vis; 2008 Jul 09; 14():1277-81. PubMed ID: 18618004
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  • 3. Cholesterol turnover in hereditary crystalline corneal dystrophy of Schnyder.
    Burns RP, Connor W, Gipson I.
    Trans Am Ophthalmol Soc; 1978 Jul 09; 76():184-96. PubMed ID: 314192
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  • 4. In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.
    Vesaluoma MH, Linna TU, Sankila EM, Weiss JS, Tervo TM.
    Ophthalmology; 1999 May 09; 106(5):944-51. PubMed ID: 10328394
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  • 5. [Schnyder corneal dystrophy and juvenile, systemic hypercholesteremia].
    Kohnen T, Pelton RW, Jones DB.
    Klin Monbl Augenheilkd; 1997 Aug 09; 211(2):135-7. PubMed ID: 9379642
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  • 6. The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36.
    Shearman AM, Hudson TJ, Andresen JM, Wu X, Sohn RL, Haluska F, Housman DE, Weiss JS.
    Hum Mol Genet; 1996 Oct 09; 5(10):1667-72. PubMed ID: 8894705
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  • 7. Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition.
    McCarthy M, Innis S, Dubord P, White V.
    Ophthalmology; 1994 May 09; 101(5):895-901. PubMed ID: 8190477
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  • 11. Unesterified cholesterol in Schnyder's corneal crystalline dystrophy.
    Rodrigues MM, Kruth HS, Krachmer JH, Willis R.
    Am J Ophthalmol; 1987 Aug 15; 104(2):157-63. PubMed ID: 3303946
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  • 13. Crystalline corneal dystrophy in the dog. Histochemical and ultrastructural study.
    Crispin SM.
    Cornea; 1988 Aug 15; 7(2):149-61. PubMed ID: 3261227
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  • 16. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
    Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML.
    Invest Ophthalmol Vis Sci; 2007 Nov 15; 48(11):5007-12. PubMed ID: 17962451
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  • 17. [Crystalline corneal dystrophy (Schnyder) in the presence of familial type IIa hyperlipoproteinaemia (author's transl)].
    Thiel HJ, Voigt GJ, Parwaresch MR.
    Klin Monbl Augenheilkd; 1977 Nov 15; 171(5):678-84. PubMed ID: 202777
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