Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Researchers have identified a promising strategy to improve memory and brain cell function in models of 22q11.2 Deletion Syndrome. The study, published in eLife, shows that reducing the levels of the ...

A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...

In a recent study posted to the medRxiv* preprint server, a group of researchers identified large deletions in individuals with unexplained hyperinsulinism (HI), thereby elucidating the potential ...

Validation of large chromosomal segment deletions by chromosome painting. (a, b) FISH assays of the chr2 barcode probes and chr2 painting probes on metaphase chromosomes prepared from LeiTing. The ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease, ...