The DOI matches its Crossref record; 151 of the 151 references it cites were found in a registry or an index.
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Open accessAbstract
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediate various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders (ASD). The region is subject to genomic imprinting and the behavioral phenotypes associated with the chromosome 15q11.2-q13 disorders show a parent-of-origin specific effect that suggests that increased copy number of maternally derived alleles contributes to autism susceptibility. Notably, nonimprinted, biallellically expressed genes within the interval also have been shown to be misexpressed in brains of patients with chromosome 15q11.2-q13 genomic disorders, indicating that they also likely play a role in the phenotypic outcome. This review provides an overview of the phenotypes of these disorders and their relationships with ASD and outlines the regional genes that may contribute to the autism susceptibility imparted by copy number variation of the region.
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Cited by
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Autism spectrum disorders-a genetics review
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Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329
Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283
Metadata
- Authors
- Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C.
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2010-05
- Volume
- 38
- Issue
- 2
- Pages
- 181-191
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W2005585817
- Cited by
- 351
- References
- 151
- FWCI
- 13.01
- Type
- journal article
- Language
- en
- Open access
- green
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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