Syndromic diagnoses in the Pediatric Cardiac Genetic Consortium Cohort.

<p>Syndromic diagnoses in the Pediatric Cardiac Genetic Consortium Cohort.</p

Demographic, pregnancy, and birth history comparisons of nonsyndromic^a cases across major types of congenital heart defect in the Pediatric Cardiac Genetic Consortium Cohort.

<p>Demographic, pregnancy, and birth history comparisons of nonsyndromic<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0191319#t004fn002" target="_blank">^a</a> cases across major types of congenital heart defect in the Pediatric Cardiac Genetic Consortium Cohort.</p

Diagnostic types of congenital heart defect in the Pediatric Cardiac Genetic Consortium Cohort.

<p>Diagnostic types of congenital heart defect in the Pediatric Cardiac Genetic Consortium Cohort.</p

Description of nonsyndromic^a cases in the Pediatric Cardiac Genetic Consortium Cohort.

<p>Description of nonsyndromic<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0191319#t003fn002" target="_blank">^a</a> cases in the Pediatric Cardiac Genetic Consortium Cohort.</p

Top 13 SMA motor function regressors are markers in two SMA populations.

<p>The top 13 list was compiled based on significant regression to HFMS and other SMA motor outcome measures in the PNCRN natural history study sampleset. The pilot panel of markers tested included 35 top motor analytes identified via the BforSMA study and these 13 analytes represent robust repeat markers in a distinct SMA population.</p

SMA-MAP motor function score prediction model.

<p>Using Tobit linear regression models SMA motor scores were predicted from SMA-MAP analytes values with age of onset as a covariable. Pearson correlations between actual and predicted motor scores for the top 6 combinations from BforSMA were plotted. <b>A</b>: Graph of actual and predicted motor scores of a 6 analyte model uncensored model. Type 1 SMA patients and ambulatory Type 3 subjects can be represented in the analysis and given a score below 0 or over 40 respectively. <b>B</b>: Graph of 6 analyte motor scores using values censored between 0 and 40. Note that the Type 1 datapoints have been moved arbitrarily to the right to allow visualization, and these points still represent values of 0.</p

SMA non-motor outcome regressors.

<p>Several markers were identified in the PNCR NHS as regressing to the Children’s Hospital of Philadelphia Test of Strength (CHOP-TOSS), pulmonary function (best FVC), electrophysiology (CMAP and MUNE), strength as measured by knee and elbow flexion and extension(log average MyoEF, MyoKE, MyoKF), parent-reported and child-reported quality of life (PQP and PQC).</p

SMA plasma protein marker that regress to motor function (MHFMS).

<p>Markers that regressed to MHFMS SMA motor scores from the BforSMA study are listed by each analysis with their R-values and p–values. TNXB appears twice due to the positive regression with two unique isoforms.</p

SMA-MAP analytes and their correlated outcomes.

<p>CHOP-TOSS = Children’s Hospital of Philadelphia Test of Strength, FVC = forced vital capacity, Motor = motor function scale (e.g. MHFMS, HFMS, HFMSE, GMFM), PD = SMN pharmacodynamic measure, CMAP = compound motor action potential, MUNE = motor unit number estimation, PQP = PedQL quality of life, parent score, PQC = PedQL quality of life, child score, CHOP-TOSS = Children’s Hospital of Philadelphia Test of Strength.</p

Gene expression interactions in breast cancer survival.

<p>(<b>A</b>) Kaplan–Meier survival curves based on categorization of <i>HMMR</i> (probe NM_012484) and <i>AURKA</i> (NM_003600) expression in tertiles (low, medium or high expression). For simplicity, only the tertiles for “high” <i>AURKA</i> are shown. The tumours with high expression levels for both genes were not those with the poorest prognosis. (<b>B</b>) Kaplan–Meier survival curves based on categorization of <i>HMMR</i> (NM_012484) and <i>TUBG1</i> (NM_016437) expression in tertiles (low, medium or high expression). For simplicity, only the tertiles for “high” <i>HMMR</i> are shown. The cases with high expression levels for both genes were those with the poorest prognosis.</p