39 research outputs found
Fundus photographs in patients with copy number (CN) gain or loss.
<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 AMD cases and controls.
<p>Association between AMD cases and controls.</p
Additional file 2: of LYL1 gene amplification predicts poor survival of patients with uterine corpus endometrial carcinoma: analysis of the Cancer genome atlas data
Figure S2. Enriched genes of cancer-related and cell proliferation pathways according to the two histologic types; serous and endometrioid. (PNG 486Â kb
Additional file 2: of LYL1 gene amplification predicts poor survival of patients with uterine corpus endometrial carcinoma: analysis of the Cancer genome atlas data
Figure S2. Enriched genes of cancer-related and cell proliferation pathways according to the two histologic types; serous and endometrioid. (PNG 486Â kb
Additional file 1: of LYL1 gene amplification predicts poor survival of patients with uterine corpus endometrial carcinoma: analysis of the Cancer genome atlas data
Figure S1. Gene set enrichment analysis according to histologic types and TCGA classes. (PNG 144Â kb
Sequencing summary of patient samples.
1<p>Bases within the bait region defined as the region covered by more than one capture probe.</p
Linkage disequilibrium estimation among candidates (r<sup>2</sup>>0.3).
<p>Linkage disequilibrium estimation among candidates (r<sup>2</sup>>0.3).</p
Association between alopecia universalis and selected markers in the case-control analysis.
<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
Demographic data of enrolled patients.
1<p>Based on the age at onset of < or ≥13 yr, patients were classified to the early-onset group.</p