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Shprintzen syndrome

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

Papers overview

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Highly Cited
2008
Highly Cited
2008
Purpose: Genomic rearrangements of chromosome 22q11.2, including the microdeletion associated with DiGeorge/velocardiofacial… 
Review
2008
Review
2008
Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other… 
Highly Cited
2003
Highly Cited
2003
BACKGROUND Velocardiofacial syndrome (VCFS) is a common microdeletion syndrome associated with psychiatric morbidity and… 
Highly Cited
2002
Highly Cited
2002
We screened a custom-made candidate gene cDNA array comprising 300 genes. Genes chosen have either been implicated in… 
Highly Cited
2002
Highly Cited
2002
The gene for COMT is located on chromosome 22q11, an area that has been implicated in the pathogenesis of schizophrenia through… 
Highly Cited
2001
Highly Cited
2001
Del22q11 syndrome is caused by heterozygous deletion of an approximately 3 Mb segment of chromosome 22q11.2. Children diagnosed… 
Highly Cited
2000
Highly Cited
2000
Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy… 
Highly Cited
1995
Highly Cited
1995
Velo-cardio-facial (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in… 
Highly Cited
1994
Highly Cited
1994
Magnetic resonance imaging of the brain in 11 consecutively referred patients with velo-cardiofacial syndrome (VCF) showed…