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Volumn 92, Issue 2, 2008, Pages 299-300

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance [9]

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EID: 38949204932     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.120055     Document Type: Letter
Times cited : (11)

References (12)
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  • 3
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    • Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity
    • Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 1990;110:124-34.
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  • 4
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    • Milam, A.H.1    Rose, L.2    Cideciyan, A.V.3
  • 5
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    • Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptor of fetal human retina
    • Bumsted O'Brien KM, Cheng H, Jiang Y, et al. Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptor of fetal human retina. Invest. Ophthalmol Vis Sci 2004;45:2807-12.
    • (2004) Invest. Ophthalmol Vis Sci , vol.45 , pp. 2807-2812
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  • 6
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    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000;24:127-31.
    • (2000) Nat Genet , vol.24 , pp. 127-131
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  • 7
    • 0141722455 scopus 로고    scopus 로고
    • Shared mutations in NR2E3 in Enhanced S-Cone syndrome, Goldman-Favre syndrome and many cases of Clumped Pigmentary Retinal Degeneration
    • Sharon D, Sandberg MA, Caruso RC, et al. Shared mutations in NR2E3 in Enhanced S-Cone syndrome, Goldman-Favre syndrome and many cases of Clumped Pigmentary Retinal Degeneration. Arch Ophthalmol 2003;121:1316-23.
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    • Sharon, D.1    Sandberg, M.A.2    Caruso, R.C.3
  • 8
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    • Wright AF, Reddick AC, Schwartz SB, et al. Mutation analysis in NR2E3 and NRL genes in enhanced S cone syndrome. Hum Mut 2004;24:439.
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  • 9
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    • Marmor MF, Holder GE, Seeliger MW, et al. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004;108:107-4.
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  • 10
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    • Optical coherence tomography in S-cone syndrome: Large macular retinoschisis with disorganized retinal lamination
    • Hayashi T, Kitahara K. Optical coherence tomography in S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. Eur J Ophthalmol 2005;15:643-6.
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.