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Article: Developmental perspectives on copy number abnormalities of the 22q11.2 region

TitleDevelopmental perspectives on copy number abnormalities of the 22q11.2 region
Authors
Issue Date2010
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 2010, v. 78 n. 3, p. 201-218 How to Cite?
AbstractThe 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 deletion and Cat-eye syndromes (CES), but more recently other copy number abnormalities have been recognised, especially with increased use of microarrays in the investigation of patients with congenital malformations or cognitive impairment. In addition, mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes. Recent advances in our understanding of 22q11.2 genes and their interactions provide insight into the mechanisms underlying the phenotypic variability of the 22q11.2 syndromes, and suggest a possible common developmental pathway perturbed by copy number abnormalities of this locus. © 2010 John Wiley & Sons A/S.
Persistent Identifierhttp://hdl.handle.net/10722/170442
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorGordon, CTen_US
dc.contributor.authorAmor, DJen_US
dc.contributor.authorFarlie, PGen_US
dc.date.accessioned2012-10-30T06:08:48Z-
dc.date.available2012-10-30T06:08:48Z-
dc.date.issued2010en_US
dc.identifier.citationClinical Genetics, 2010, v. 78 n. 3, p. 201-218en_US
dc.identifier.issn0009-9163en_US
dc.identifier.urihttp://hdl.handle.net/10722/170442-
dc.description.abstractThe 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 deletion and Cat-eye syndromes (CES), but more recently other copy number abnormalities have been recognised, especially with increased use of microarrays in the investigation of patients with congenital malformations or cognitive impairment. In addition, mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes. Recent advances in our understanding of 22q11.2 genes and their interactions provide insight into the mechanisms underlying the phenotypic variability of the 22q11.2 syndromes, and suggest a possible common developmental pathway perturbed by copy number abnormalities of this locus. © 2010 John Wiley & Sons A/S.en_US
dc.languageengen_US
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_US
dc.relation.ispartofClinical Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Genetics - Pathologyen_US
dc.subject.meshAnimalsen_US
dc.subject.meshChromosome Aberrationsen_US
dc.subject.meshChromosomes, Human, Pair 22 - Geneticsen_US
dc.subject.meshCraniofacial Abnormalitiesen_US
dc.subject.meshGene Expression Regulation, Developmentalen_US
dc.subject.meshHumansen_US
dc.subject.meshMutationen_US
dc.subject.meshSyndromeen_US
dc.subject.meshT-Box Domain Proteins - Geneticsen_US
dc.titleDevelopmental perspectives on copy number abnormalities of the 22q11.2 regionen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1111/j.1399-0004.2010.01456.xen_US
dc.identifier.pmid20497193-
dc.identifier.scopuseid_2-s2.0-77955838340en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77955838340&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume78en_US
dc.identifier.issue3en_US
dc.identifier.spage201en_US
dc.identifier.epage218en_US
dc.identifier.isiWOS:000280629500001-
dc.publisher.placeDenmarken_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridGordon, CT=8527340000en_US
dc.identifier.scopusauthoridAmor, DJ=7004097069en_US
dc.identifier.scopusauthoridFarlie, PG=6602502556en_US
dc.identifier.citeulike7618708-

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