Haploview graphs showing the markers tested and haplotype blocks constructed for <i>ALDH1A2</i>, <i>CDX1</i> and <i>FLT1</i>.

<p>D′ values are indicated (tones from white to dark grey indicate D′ values from 0 to 1, respectively). The genomic structures of <i>ALDH1A2</i>, <i>CDX1</i> and <i>FLT1</i> genes are drawn with coding exons indicated as black boxes. The SNPs with <i>P</i>-value<0.01 are indicated with an asterisk (*); the SNPs showing association after 10% FDR correction for multiple testing (<i>P</i><2.09E-03) are indicated with a double asterisk (**).</p

Case-control association study of 404 Spanish CMI patients and 519 sex-matched controls.

<p>An additional study analyzed 186 classical CMI patients and the same control population. Only markers with <i>P</i>-value<0.01 (Cochran-Armitage trend test) are shown.</p>*<p> <u>Significant associations after applying 10% FDR.</u></p

PVL sample; positive correlations between CTh and behavioural scores.

<p>Regions in bold represent the maximum coordinate encompassed in a given cluster.</p><p>Abbreviations: bankssts: banks of the superior temporal sulcus, CBCL: Child Behavioural Checklist, L: left hemisphere, R: right hemisphere.</p><p>Talaraich coordinates indicate: x increases from left (−) to right (+); y increases from posterior (−) to anterior (+); and z increases from inferior (−) to superior (+).</p

Characteristics of the samples: neonatal and demographic data.

*<p><i>F</i> statistic.</p>†<p>Significant differences found in term children compared with PVL-preterm and preterm children.</p>‡<p>Available data for length variable: 12 PVL-preterm, 14 preterm and 22 term children.</p>↑<p>Available data for head circumference variable: 12 PVL-preterm, 14 preterm and 18 term children.</p>▪<p><i>X</i>² statistic.</p

Typical neuroradiological findings in CMI.

<p>A) T1-weighted mid-sagittal MR image showing downward herniation of the cerebellar tonsils (a) and hypoplasia of the occipital components of the posterior cranial fossa (b): the supraocciput (c) and the basiocciput (d). B) Morphological measurements performed: length of tonsillar descent (f), supraocciput (g-b) and clivus (c–d) and foramen magnum diameter (b–c). The antero-posterior diameter of PCF (h) was inferred from a line running from the internal occipital protuberance (a) to top of the dorsum sellae (d). The PCF area was estimated as the polygon delimited by (a) (b) (c) (d) and (e) and the osseus PCF area as the one delimited by (a) (b) (c) and (d). Angular measurements: tentorium angle (i), basal angulation (j) and Wackenheim angle (k).</p

Haplotype analysis for the linkage disequilibrium blocks containing SNPs that showed significant associations in the single marker analysis (Haploview v4.2 software).

a<p>A total of 10,000 permutations were performed using Haploview v4.2 to obtain a measure of significance corrected for multiple testing.</p

Correlation analysis between regional CTh and (A) internalizing or (B) externalizing indexes in the PVL-preterm group.

<p>The colour bar represents statistically significant (P<.05) thinning (blue) or thickening (yellow). Partial correlation statistics and scatter plots of mean CT in each area are displayed corrected for covariate effects.</p

Association between risk genotypes and PCF morphometric traits in 211 patients with CMI.

<p>Data presented are <i>P</i>-values (Scheffé's post-hoc and Kruskal-Wallis tests).</p>*<p>Assessed as the distance from the dorsum sellae to the internal occipital protuberance; in bold, P<0.05.TD: tonsillar descent; OPCF: osseous PCF, FM: foramen magnum.</p

Quantile-quantile plot of the 303 <i>P</i>-values obtained in the association study under the additive model.

<p>404 CMI patients versus 519 controls (A), and 186 small-PCF CMI versus 519 controls (B). SNPs with <i>P</i>-value<0.01 are indicated. Asterisks denote SNPs displaying association after 10% FDR correction for multiple testing (<i>P</i><2.09E-03).</p

Maps of regional CTh comparisons between groups.

<p>(A) PVL preterm versus non-PVL preterm (B) Non-PVL preterm and (C) PVL preterm versus full-term children. Colour bars represent statistically significant (P<.05) thinning (blue) or thickening (yellow). Scatter plots show mean CTh values for each group and for illustration purposes have not been corrected for covariate effects.</p