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22q11.2

A chromosome band present on 22q
National Institutes of Health

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3 relations
22qChromosomesDGCR8 wt Allele

Papers overview

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Highly Cited
2015
Highly Cited
2015
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Highly Cited
2011
Highly Cited
2011
Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
Individuals with 22q11.2 microdeletions have cognitive and behavioral impairments and the highest known genetic risk for… 
Highly Cited
2008
Highly Cited
2008
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes
Purpose: Genomic rearrangements of chromosome 22q11.2, including the microdeletion associated with DiGeorge/velocardiofacial… 
Highly Cited
2005
Highly Cited
2005
Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice
Microdeletions of 22q11.2 represent one of the highest known genetic risk factors for schizophrenia. It is likely that more than… 
Highly Cited
2001
Highly Cited
2001
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
OBJECTIVES To characterize immunologic function and clinical characteristics in patients with chromosome 22q11.2 deletion… 
Highly Cited
2001
Highly Cited
2001
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
Purpose: The chromosome 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial… 
Highly Cited
2000
Highly Cited
2000
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
The 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most common… 
Highly Cited
2000
Highly Cited
2000
Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.
OBJECTIVES To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated… 
Highly Cited
1999
Highly Cited
1999
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge… 
Review
1995
Review
1995
Transcriptional regulation by MAP kinases
Tyrosine kinase growth factor receptors activate MAP kinase by a complex mechanism involving the SH2/3 protein Grb2, the exchange… 
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