8 research outputs found
Additional file 1 of SLMSuite: a suite of algorithms for segmenting genomic profiles
Supplementary figures. The pdf file contains Figures S1-S3. (PDF 86.9 kb
Additional file 4: of A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study
BMC Cancer.doc, The assessment of methodological quality for the included studies in the review. (DOC 174 kb
Additional file 5: of A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study
BMC Cancer.doc, PRISMA Checklist for the current review. (DOC 58 kb
Additional file 3: of A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study
BMC Cancer.doc, Criteria for the quality assessment of the included studies in the review. (DOCX 62 kb
Additional file 1: of A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study
BMC Cancer.doc, Full Search Strategy. (DOCX 17 kb
Physical map of the 15q11.2-q14 region.
<p>The six segmental duplication sites responsible for specific recurrent rearrangements in this region, known as BP1-6, are represented by black boxes. All genes in the region are shown. The position of the chromosome 15 breakpoints of the five translocation cases we have examined are represented by thin arrows. The positions of the eight translocation cases (MR1-8) described by Mignon-Ravix <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-MignonRavix1" target="_blank">[10]</a> are indicated by thick arrows.</p
Phenotype, karyotype and molecular characterization of the five cases with unbalanced translocations.
*<p>The minor cell line has been confirmed, by classical cytogenetics, in fibroblasts, with a similar mosaicism percentage (45, XX, der(15;18)(q13;q23)[83]-15/45, X, der (X;15)(q28;q13),-15<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Carrozzo1" target="_blank">[3]</a>*).</p
Molecular cloning of the 5;15 translocation in case 1.
<p>A, magnified view of the chromosome 5 breakpoint boundary detected by array-CGH using a 244 K oligonucleotide-based whole-genome microarray. The shaded area indicates a loss in DNA copy number (deletion) detected by three oligonucleotide probes (green dots). Black dots represent probes with no changes in copy number (non-deleted region). B, whole chromosome view (left) and magnified view (right) of the chromosome 15 breakpoint boundaries detected by custom oligonucleotide-based 15q11-q13 microarray. The shaded areas indicate a deletion (majority of green dots) and a gain in DNA copy number (duplication) detected by red dots (see arrow). The area containing few widely spaced probes represents BP3, a large region containing paralogous sequences. The last deleted oligomer is at 26,210,153 bp within <i>HERC2</i>, corresponding to BP3; the duplicated region is between 26,996,914 (first duplicated) and 27,106,557 bp (last duplicated) with first normal oligomer at 27,108,882 bp just distal to BP3, within the <i>APBA2</i> gene. An arrowhead points to the two black spots possibly indicating a single copy region between the deletion and the duplication. C, schematic representation of the rearrangement showing the two chromosomes involved, the position and orientation of the duplicated region, and the location of the two junctions (arrows). D, DNA sequences spanning the chromosome 5 deletion/15 duplication junction (Jc1) aligned with the reference sequences. E, dot-plot diagram, made with PipMaker software <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0039180#pone.0039180-Schwartz1" target="_blank">[45]</a>, showing the relative location of the inverted chromosome 15 duplication boundaries (Jc1 and Jc2, arrows) and of the <i>GOLGA8E</i>-associated inverted low copy repeat. The duplicated portion is represented by an orange arrow box.</p