Great strides have been made over the past 30 years in understanding the
neurodevelopmental changes underlying the intellectual disability (ID) in Down syndrome …

Background RUNX1 is a transcription factor and a master regulator for the specification of
the hematopoietic lineage during embryogenesis and postnatal megakaryopoiesis …

Epidemiological and experimental studies suggest that a disease-aggravating
neuroinflammatory process is present at preclinical stages of Alzheimer's disease. Given …

Characterising phenotypes often requires quantification of anatomical shape. Quantitative
shape comparison (morphometrics) traditionally uses manually located landmarks and is …

An organism or cell carrying a number of chromosomes that is not a multiple of the haploid
count is in a state of aneuploidy. This condition results in significant changes in the level of …

Objective Trisomy 21 is one of the most complex genetic perturbations compatible with
postnatal survival. Dosage imbalance arising from the triplication of genes on human …

Abstract MECP2 duplication syndrome (MDS), a rare X‐linked genomic disorder affecting
predominantly males, is caused by duplication of the chromosomal region containing the …

Down syndrome (DS) phenotypes result from triplicated genes, but the effects of three copy
genes are not well known. A mouse mapping panel genetically dissecting human …

Alzheimer's disease (AD) is the most common neurodegenerative disease which is
becoming increasingly prevalent due to ageing populations resulting in huge social …

The genotype–phenotype relationship and the physiopathology of Down Syndrome (DS)
have been explored in the last 20 years with more and more relevant mouse models. From …