22q13.3

A chromosome band present on 22q
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2018
051019802018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Phelan-McDermid syndrome (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely… (More)
  • figure 2
  • figure 4
  • figure 3
  • figure 5
Is this relevant?
Highly Cited
2012
Highly Cited
2012
The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
Is this relevant?
2010
2010
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype… (More)
  • figure 1
  • figure 2
  • table II
  • figure 3
  • table III
Is this relevant?
2009
2009
BACKGROUND The 22q13.3 deletion syndrome (or Phelan-McDermid syndrome, MIM 606232) is characterized by developmental delay… (More)
Is this relevant?
Highly Cited
2008
Highly Cited
2008
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome… (More)
  • table 1
Is this relevant?
2008
2008
OBJECTIVE The 22q13.3 deletion syndrome (Online Mendelian Inheritance in Man No. 606232) is a neurodevelopmental disorder that… (More)
  • table 2
  • figure 1
Is this relevant?
Highly Cited
2006
Highly Cited
2006
INTRODUCTION The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2001
Highly Cited
2001
The terminal 22q13.3 deletion syndrome is characterized by severe expressive-language delay, mild mental retardation, hypotonia… (More)
Is this relevant?
2000
2000
Loss of heterozygosity for chromosome 22 (LOH 22) occurs in gliomas of all malignancy grades. Neurofibromatosis type 2 (NF2… (More)
Is this relevant?
1994
1994
We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis… (More)
Is this relevant?