22q13.3 Deletion Syndrome

Stimulated by the pioneering work of Goffman (1963), research into the causes and consequences of stigma has proliferated over… Expand

Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by… Expand

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of… Expand

BackgroundSHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key… Expand

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome… Expand

1. Aquatic insects emerging from streams can provide an important energy subsidy to recipient consumers such as riparian web… Expand

CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a… Expand

Methods: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of… Expand

The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia… Expand

We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these… Expand