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22q13.3 Deletion Syndrome

Known as: PHELAN-MCDERMID SYNDROME, Telomeric 22q13 Monosomy Syndrome, Deletion 22q13 Syndrome 
National Institutes of Health

Related topics

Related topics

16 relations
Aggressive behaviorBlepharoptosisGlobal developmental delayLong narrow head
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Broader (3)

Chromosome DeletionChromosomes, Human, Pair 22Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits
SHANK3 (also known as PROSAP2) is a postsynaptic scaffolding protein at excitatory synapses in which mutations and deletions have… Expand
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Highly Cited
2014
Highly Cited
2014
Introduction to the special issue on structural stigma and health.
Stimulated by the pioneering work of Goffman (1963), research into the causes and consequences of stigma has proliferated over… Expand
Highly Cited
2011
Highly Cited
2011
The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of… Expand
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Highly Cited
2011
Highly Cited
2011
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by… Expand
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Highly Cited
2010
Highly Cited
2010
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
BackgroundSHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key… Expand
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Highly Cited
2008
Highly Cited
2008
Deletion 22q13.3 syndrome
  • M. C. Phelan
  • Orphanet journal of rare diseases
  • 2008
    • Corpus ID: 17196025
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome… Expand
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Highly Cited
2005
Highly Cited
2005
Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3
CpG islands are present in one-half of all human and mouse genes and typically overlap with promoters or exons. We developed a… Expand
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Highly Cited
2003
Highly Cited
2003
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
Methods: The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of… Expand
Highly Cited
2001
Highly Cited
2001
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia… Expand
Highly Cited
2001
Highly Cited
2001
22q13 deletion syndrome.
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these… Expand
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