It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 ...
Laboratory Investigation (2015) 95, 366–376 & 2015 USCAP, Inc All rights reserved 0023-6837/15 $32.00 PATHOBIOLOGY IN FOCUS Novel genotype-phenotype associations in human cancers enabled by advanced molecular platforms and computational analysis of whole slide images Lee AD Cooper1,2,3, Jun Kong...
whereyijis the methylation residual after QC steps,iis theith individual,jrepresents thejth observation in individuali,u1is the mean effect,u2is the mean age effect,aiandbiare the random intercept (mean level of DNA methylation in each individual) and random slope,tijrepresents standardized age (...
Second, irrespective of disease status, heterozygotes were significantly different from noncarriers, suggesting that PARKIN heterozygosity may contribute to phenotype. 2014 International Parkinson and Movement Disorder Societydoi:10.1002/mds.26065Sharp, Madeleine E....
each variable was evaluated by examining the significance of the variable coefficient. Follow-up analyses were conducted to examine the possibility of population stratification [69], a "third variable" confound based on differential associations between a given phenotype and racial/ethnic differences. For...
intermediate phenotype between serotonin transporter gene and depression onset is perhaps somewhat unsurprising, given the heterogeneous findings regarding the association between 5- HTTLPR and amygdala structure,37–40 and between amygdala structure and depression.23,30 These null findings may reflect a ...
In addition to the previous research on KS correlates cited earlier, these results are consistent with the limited research on the link between KS and QoL, including the inverse association found between QoL and phenotype severity among boys and men with KS,9,11 and the finding that over three...
ATTENTION-DEFICIT/HYERACTIVITY DISORDER (ADHD): OVERVIEW ADHD has been considered a complex genetic trait based upon a phenotype ranging from mildly to severely affected and familial clustering without clearly recognizable Mendelian seg- regation. The effect of complex epistasis or pleiotropy acting in ...
It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods In a collaborative study, we analyzed clinical data for 87 ...
Using these emerging eQTL datasets, gene expression can be used as an intermediate molecular phenotype to potentially address the functional gap in GWAS findings and take a much needed step closer to understanding the underlying mechanisms and molecular pathways of complex disorders. Recently, a gene-...