5 research outputs found
Haematoxilin and eosin staining (original magnification Ă—400) of intestinal-type (A) and pyloric gland (B) gastric adenomas
<p><b>Copyright information:</b></p><p>Taken from "DNA copy number profiles of gastric cancer precursor lesions"</p><p>http://www.biomedcentral.com/1471-2164/8/345</p><p>BMC Genomics 2007;8():345-345.</p><p>Published online 1 Oct 2007</p><p>PMCID:PMC2147033.</p><p></p> A. Intestinal-type adenoma of the stomach composed of irregularly arranged glands composed of intestinal-type epithelium with eosinophilic cytoplasm and enlarged nuclei. B. Pyloric gland adenoma of the stomach composed of densely back to back packed glands consisting of cells with pale cytoplasm and small round hyperchromatic nuclei
Photographs of patient #15 (<i>MECP2</i> mutation).
<p>The patient at 3 years and 6 months. The patient was diagnosed with a de novo mutation p.(Arg133Cys) in <i>MECP2</i>. Note arched eyebrows with slight synophrys, short anteverted nose, thin upper lip and smooth long philtrum.</p
Photographs of patients #7 and #29 (<i>MED13L</i> mutation).
<p>The patient (A-G) at 3 months of age (A,B,D) and at 2 years and 2 months of age (C) as well as patient 47961 (H-J) at 4 years and 2 months of age. Both patients were diagnosed with MED13L syndrome. Note long eyelashes, broad nasal tip and open mouth appearance as well as preauricular tags in both patients.</p
Summary of clinical information and mutation detection rates for subgroups of the cohort.
<p>Summary of clinical information and mutation detection rates for subgroups of the cohort.</p
Sequence coverage and occurrence of <i>ADAMTSL2</i> variants.
<p>The data is shown in the UCSC genome browser “multi region view” (<a href="http://genome.ucsc.edu/" target="_blank">http://genome.ucsc.edu</a>), which displays exons in full length (dark blue boxes), flanked by 50 bp of intronic sequence (dark blue vertical line). The scale on top refers to the condensed sequence shown here. The full <i>ADAMTSL2</i> gene comprises 40.6 kb of genomic DNA (chr9:136399975–136440641, hg19). Green: read coverage, target position and variants identified in this cohort; black: corresponding data in gnomAD.</p