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Shprintzen syndrome

Known as: 22q11.2DS, Sedlackova Syndrome, Velo Cardio Facial Syndrome 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
OBJECTIVE Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other… Expand
Review
2008
Review
2008
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability… Expand
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Review
2008
Review
2008
  • R. Shprintzen
  • Developmental disabilities research reviews
  • 2008
  • Corpus ID: 1242831
Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in… Expand
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Highly Cited
2002
Highly Cited
2002
Several lines of evidence have placed the catechol-O-methyltransferase (COMT) gene in the limelight as a candidate gene for… Expand
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Highly Cited
2001
Highly Cited
2001
The DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a relatively common human disorder, usually associated with deletions of… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar… Expand
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Highly Cited
1999
Highly Cited
1999
Tight junctions (TJs) in endothelial cells are thought to determine vascular permeability. Recently, claudin-1 to -15 were… Expand
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Highly Cited
1998
Highly Cited
1998
Neural crest cells arise in the dorsal aspect of the neural tube and migrate extensively to differentiate into a variety of… Expand
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Highly Cited
1995
Highly Cited
1995
We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study… Expand
Highly Cited
1993
Highly Cited
1993
Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In… Expand