Velo‐cardio‐facial syndrome is one of the names that has been attached to one of the most
common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 …

OBJECTIVE: To review the literature of the past decade covering the epidemiology, clinical
characteristics, assessment, longitudinal course, biological and psychosocial correlates, and …

Abstract Catechol-O-methyltransferase (COMT) inactivates catecholamines and catechol
drugs such as L-DOPA. A common genetic polymorphism in humans is associated with a …

Background Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an
increased frequency of schizophrenia and bipolar disorder, is associated with small …

This definitive reference work replaces Konigsmark and Gorlin's Genetic and Metabolic
Deafness (1976). Whereas the earlier volume covered 151 genetic conditions related to …

Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and
conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11 …

We report the results of two studies examining the genetic overlap between schizophrenia
and velocardiofacial syndrome. In study A, we characterize two interstitial deletions …

Cardiovascular anomalies are present in 80% of neonates with 22q11. 2 deletion syndrome.
Three genes in chromosome 22q11. 2 (TBX1, CRKL, and ERK2) have been identified …

The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of rare inherited
neurodegenerative diseases ofchildhood clas-sified according to their age of onset and …