The DOI matches its Crossref record; 54 of the 54 references it cites were found in a registry or an index.
The 22q11 deletion syndromes
Abstract
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome 22q11. Many of the structural malformations observed are also seen in animal models of neural crest disruption suggesting that the haplo-insufficiency resulting from the deletion somehow affects this group of cells or their interactions. Over the past few years it has been shown that the deletion predisposes to a range of psychotic conditions prompting the hypothesis that the deleted region may contain a predisposition locus for psychotic illness. The DiGeorge chromosomal region has been entirely sequenced and many of the genes mapping to the deletion interval have been studied in some detail. Despite these efforts, no gene has yet been proved to play a defined role in the pathogenesis of the syndrome. Current efforts are directed at the study of engineered chromosome mouse models which offer the potential to dissect at least some of the developmental pathways disrupted in this intriguing group of malformation syndromes.
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Cites
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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
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Congenital heart disease in mice deficient for the DiGeorge syndrome region
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Cited by
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
Jerome, L. A., & Papaioannou, V. E. (2001) · Nature Genetics · doi:10.1038/85845 · Cited by 1,084
Mechanisms for human genomic rearrangements
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Neurobehavioral evidence for changes in dopamine system activity during adolescence
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“2 deletion syndrome, which is caused by a hemizygous deletion in a small region of chromosome 22 that contains the COMT gene and results in debilitating cognitive impairments and a significant increase in the risk for schizophrenia (Bassett and Chow, 1999; Scambler, 2000).”
BackgroundThe neural crest in cardiac congenital anomalies
Keyte, A., & Hutson, M. R. (2012) · Differentiation · doi:10.1016/j.diff.2012.04.005 · Cited by 259
Metadata
- Authors
- Scambler, P. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-10-01
- Volume
- 9
- Issue
- 16
- Pages
- 2421-2426
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2114919588
- Cited by
- 490
- References
- 54
- FWCI
- 12.06
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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