39 research outputs found

    Fundus photographs in patients with copy number (CN) gain or loss.

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    <p>A 78-year-old man with CN gain at <i>VEGFA</i> showed typical features of neovascular AMD; with choroidal neovascularization in the left eye and confluent drusen in the right eye (A). Fluorescein angiography and spectral domain optical coherence tomography (SD-OCT) show choroidal neovascularization with cystoid macular edema at the center of the choroidal neovascularization in the left eye. The patient with CN loss at <i>CFH</i> gene was a 66-year-old woman with confluent soft drusen in both eyes (B). Flourescein angiography shows multiple hyper-fluorescent lesions at macula of both eyes and SD-OCT shows clumps in the neurosensory retina and focal elevations of retinal pigment epithelial layer.</p

    Association between alopecia universalis and selected markers in the case-control analysis.

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    <p>Abbreviations: OR, odds ratio; SNP, single nucleotide polymorphism; MAF, minor allele frequency; del, deletion; NGS, next-generation sequencing.</p>1<p>Minor allele frequency of each variant in 1000 Genomes Phase I <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0053613#pone.0053613-Amigo1" target="_blank">[27]</a>.</p>2<p>Minor allele frequency of each variant in 155 controls used in this study.</p
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