… duplication; aberrant methylation of 14q32.2; paternal IGF2 loss-of-… ICR1 is a differentially
methylated region (DMR) with … the IGF2/H19 domain in five SRS patients with isolated ICR1-…

… , H19 and Igf2 are regulated by a differentially methylated imprinting control region (ICR).
CTCF binding sites and DNA methylation … detect aberrant paternal H19 expression in the H19 …

… Loss of methylation is detected in the ICR1 that controls the H19/IGF2 domain in about 65%
of … to the offspring and results in aberrant expression of the Igf2 and H19 imprinted genes. …

… of ICR1 explain only 20% of BWS cases with ICR1-GOM 10. As aberrant methylation may
occur as … of ICR1 mutations, unknown causes for ICR1 methylation defects should be clarified. …

… In this study, we analyzed the methylation levels of 10 DMSs within the IGF2/H19 domain in
… , mature oocytes showed partial aberrant methylation of the mutant ICR1, but the aberrant …

… Syndrome and Angelman Syndrome, aberrant DNA methylation was shown to be the cause.
… lead to aberrant DNA methylation at the imprinting control region 1 (ICR1) of H19 and IGF2, …

… by allele-specific DNA methylation at imprinting control regions (ICRs). Aberrant DNA
hyper- or hypomethylation at the ICR1 of the H19/IGF2 imprinting locus is characteristic for the …

… Therefore, in this study, we determined the methylation status of ICR1 in high-quality …
Furthermore, they have not used the result of aberrant methylation or hypo-methylated embryos in …

… of the H19/IGF2 ICR1 in RSS, and to evaluate the association of other methylation changes
… Furthermore, we have seen aberrant increased methylation at this site in a separate study of …

… The commonest finding was a loss of methylation at H19 (23 … by aberrant methylation at a
differentially methylated region (… IGF2 receptor is anti-proliferative, achieved by clearing IGF2 …