Imprinted genes–critical for growth, metabolism, and neuronal function–are expressed from
one parental allele. Parent-of-origin-dependent CpG methylation regulates this expression …

An important line of postgenomic research seeks to understand how genetic factors can
influence epigenetic patterning. Here we review epigenetic effects of chromosomal …

The clinical association between Trisomy 21 (Down syndrome) and aganglionosis
(Hirschsprung disease; DS–HSCR) is well-established, being of the order of 5% and …

Changes in dosage of part of the genome (aneuploidy) have long been known to produce
much more severe phenotypic consequences than changes in the number of whole …

Genomic imprinting results in gene expression bias caused by parental chromosome of
origin and occurs in genes with important roles during human brain development. However …

Purpose: To identify genetic variants conferring susceptibility to esotropia. Esotropia is the
most common form of comitant strabismus, has its highest incidence in European ancestry …

This paper explores the significant role of epigenetics in women's reproductive health,
focusing on the impact of environmental factors. It highlights the crucial link between …

Introduction Down syndrome (DS) is the most frequent genetic cause of intellectual
disability. Despite the fact that more than 50 years have passed since the discovery of its …

The presence of an extra copy of human chromosome 21 (Hsa21) leads to a constellation of
phenotypic manifestations in Down syndrome (DS), including prominent effects on the brain …

Down Syndrome (DS) is the most frequent form of intellectual disability (ID) of genetic origin,
whose main features include craniofacial dysmorphisms and cardiovascular defects. In …