Shprintzen syndrome

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

Topic mentions per year

Topic mentions per year

1978-2018
0204019782018

Papers overview

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Highly Cited
2003
Highly Cited
2003
BACKGROUND Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000… (More)
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Highly Cited
2003
Highly Cited
2003
The gene encoding catechol-O-methyltransferase (COMT) is a strong candidate for schizophrenia susceptibility, owing to the role… (More)
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Highly Cited
2001
Highly Cited
2001
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE Velocardiofacial syndrome is a common genetic condition often accompanied by mild cognitive impairment. Children and… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar… (More)
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Highly Cited
1998
Highly Cited
1998
Recent gene targeting studies have revealed unexpected roles for endothelins in the development of neural crest-derived tissues… (More)
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Highly Cited
1997
Highly Cited
1997
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and… (More)
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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… (More)
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Highly Cited
1984
Highly Cited
1984
A patient with the velo-cardio-facial syndrome is described. The most frequent features include cleft palate, cardiac anomalies… (More)
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Highly Cited
1978
Highly Cited
1978
This report describes a pattern of similarities among 12 patients which are felt to represent a newly recognized congenital… (More)
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