The DOI matches its Crossref record; 233 of the 233 references it cites were found in a registry or an index.
The genetic basis of non-syndromic intellectual disability: a review
Open accessAbstract
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by 'brute force' using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID.
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Cites
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
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The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders
Lasser, M., Tiber, J., & Lowery, L. A. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00165 · Cited by 201
Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0266-3 · Cited by 193
Metadata
- Authors
- Kaufman, L., Ayub, M., & Vincent, J. B.
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2010-07-29
- Volume
- 2
- Issue
- 4
- Pages
- 182-209
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- OpenAlex
- W1976574203
- Cited by
- 279
- References
- 233
- FWCI
- 6.87
- Type
- journal article
- Language
- en
- Open access
- hybrid
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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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