Enhanced S-cone function with preserved rod function: a new clinical phenotype

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Visual Cone Arrestin 4 Contributes to Visual Function and Cone Health.Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults.

P2860

Q27334918-58A6F475-3E9E-4219-A185-5291DE659839 Q34679743-2D6AFE8B-5A76-40D9-B075-D99C3545E53F

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Enhanced S-cone function with preserved rod function: a new clinical phenotype

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Enhanced S-cone function with preserved rod function: a new clinical phenotype

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Enhanced S-cone function with preserved rod function: a new clinical phenotype

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Enhanced S-cone function with preserved rod function: a new clinical phenotype

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P1476

Enhanced S-cone function with preserved rod function: a new clinical phenotype

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Andrew Kolker

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Dikla Bandah-Rozenfeld

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Dror Sharon

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Eran Pras

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Gili Ferman-Attar

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Iris Moroz

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Joseph Moisseiev

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Liliana Mizrahi-Meissonnier

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Ygal Rotenstreich

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

Nrl is required for rod photoreceptor development

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina.

The role of S-cones in human vision.

Expression of photoreceptor-associated molecules during human fetal eye development.

Rod-cone dystrophy associated with a rod system electroretinogram obtained under photopic conditions.

ISCEV Standard for full-field clinical electroretinography (2008 update).

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2241-2247

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scholarly article

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Michael Kinori

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2011-08-18T00:00:00Z

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21897746

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P932

3164686

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Enhanced S-cone function with preserved rod function: a new clinical phenotype

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P2860

P2860

Enhanced S-cone function with preserved rod function: a new clinical phenotype

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P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P478

P50

P577

P698

P932