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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

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… 
Review
2015
Review
2015
Induced pluripotent stem cells for modeling neurological disorders.
Several diseases have been successfully modeled since the development of induced pluripotent stem cell (iPSC) technology in 2006… 
Highly Cited
2014
Highly Cited
2014
Introduction to the special issue on structural stigma and health.
Review
2014
Review
2014
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One… 
Review
2014
Review
2014
The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment
Glutamate is the major excitatory neurotransmitter in the brain and may be a key neurotransmitter involved in autism. Literature… 
Highly Cited
2011
Highly Cited
2011
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)
Background The clinical features of Phelan–McDermid syndrome (also known as 22q13 deletion syndrome) are highly variable and… 
2011
2011
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to… 
Highly Cited
2008
Highly Cited
2008
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial
Background: The 22q13 deletion syndrome (Phelan–McDermid syndrome) is characterised by a global developmental delay, absent or… 
Highly Cited
2007
Highly Cited
2007
Spiders and subsidies: results from the riparian zone of a coastal temperate rainforest.
1. Aquatic insects emerging from streams can provide an important energy subsidy to recipient consumers such as riparian web… 
Review
2004
Review
2004
22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician
Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in… 
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