Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene. - Wikidata - awgldk - TriplyDB

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

http://www.wikidata.org/entity/Q37235127

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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia A novel RPGR mutation masquerading as Stargardt disease.Cone photoreceptor abnormalities correlate with vision loss in a case of acute posterior multifocal placoid pigment epitheliopathy Retinal damage in chloroquine maculopathy, revealed by high resolution imaging: a case report utilizing adaptive optics scanning laser ophthalmoscopy.Rapid resolution of retinoschisis with acetazolamide The fundus photo has met its match: optical coherence tomography and adaptive optics ophthalmoscopy are here to stay Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa CELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.

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Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

http://www.wikidata.org/entity/Q37235127

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 27 February 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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European Journal of Human Genetics

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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.

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In Hwan Hong

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Stanley Chang

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Stephen H Tsang

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Sung Pyo Park

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P2860

A new genetic locus for X linked progressive cone-rod dystrophy

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function

Gene action in the X-chromosome of the mouse (Mus musculus L.)

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Evaluating the lateral resolution of the adaptive optics scanning laser ophthalmoscope.

MEMS-based adaptive optics scanning laser ophthalmoscopy.

Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.

Individual variations in human cone photoreceptor packing density: variations with refractive error.

Adaptive optics scanning laser ophthalmoscopy.

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1240-1248

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scholarly article

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10.1038/EJHG.2013.21

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11

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2013-02-27T00:00:00Z

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