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Shprintzen syndrome

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

Related topics

Related topics

23 relations
Abnormality of internal carotid arteryAggressive behaviorAutosomal dominant inheritanceCleft Palate

Broader (3)

Congenital chromosomal diseaseDiGeorge SyndromeSyndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.
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
Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study.
BACKGROUND Velocardiofacial syndrome (VCFS) is a common microdeletion syndrome associated with psychiatric morbidity and… 
Highly Cited
2003
Highly Cited
2003
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the… 
Highly Cited
2002
Highly Cited
2002
Gene expression analysis in schizophrenia: Reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22
We screened a custom-made candidate gene cDNA array comprising 300 genes. Genes chosen have either been implicated in… 
Highly Cited
2000
Highly Cited
2000
Frequent association of 22q11.2 deletion with tetralogy of Fallot.
Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy… 
Review
1999
Review
1999
Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.
We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis… 
Highly Cited
1996
Highly Cited
1996
Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
Highly Cited
1995
Highly Cited
1995
Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.
Orofacial clefting is genetically complex, no single gene being responsible for all forms. It can, however, result from a single… 
Highly Cited
1992
Highly Cited
1992
Possible role for COMT in psychosis associated with velo-cardio-facial syndrome
Highly Cited
1990
Highly Cited
1990
Di George anomaly and velocardiofacial syndrome.
The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic… 
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