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22q13.3 Deletion Syndrome

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

Papers overview

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Highly Cited
2015
Highly Cited
2015
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
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, 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
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
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
  • 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
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
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
The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia… Expand
Highly Cited
2001
Highly Cited
2001
We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these… Expand