Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential
expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains …

Abstract Our understanding of Beckwith–Wiedemann syndrome (BWS) has recently been
enhanced by advances in its molecular characterization. These advances have further …

OBJECTIVE Transient neonatal diabetes mellitus 1 (TNDM1) is the most common cause of
diabetes presenting at birth. Approximately 5% of the cases are due to recessive ZFP57 …

Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in
Beckwith–Wiedemann and Silver–Russell syndromes. Genomic imprinting is a particularly …

Genomic imprinting is the parent‐of‐origin‐specific allelic transcriptional silencing observed
in mammals, which is governed by DNA methylation established in the gametes and …

Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted
genes expression causes various disorders associated with abnormalities of growth …

Silver–Russell syndrome (SRS) is a congenital imprinting disorder characterized by
intrauterine and postnatal growth restriction and further characteristic features. SRS is …

Context: Genomic imprinting is the modification of the genome so that genes from only one
(rather than two) of the parental alleles are expressed. The mechanism underlying …

Background Deletions of the imprinting centre 1 (IC1) in 11p15. 5 are rare and their clinical
significance is not only influenced by their parental origin but also by their exact genomic …

Silver-Russell syndrome is an imprinting disorder characterized by severe intrauterine and
postnatal growth retardation. The majority of patients show loss of methylation (LOM) of the …