N Carolyn Schanen
Affiliations: | University of California, Los Angeles, Los Angeles, CA |
Area:
Genetics, Biochemistry, Molecular BiologyGoogle:
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Publications
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| Wegiel J, Flory M, Schanen NC, et al. (2015) Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications. Acta Neuropathologica Communications. 3: 63 |
| Pitcher MR, Herrera JA, Buffington SA, et al. (2015) Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Human Molecular Genetics. 24: 2662-72 |
| Frackowiak J, Mazur-Kolecka B, Schanen NC, et al. (2013) The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism. Acta Neuropathologica Communications. 1: 61 |
| Urraca N, Cleary J, Brewer V, et al. (2013) The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Research : Official Journal of the International Society For Autism Research. 6: 268-79 |
| Wegiel J, Schanen NC, Cook EH, et al. (2013) Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2-q13 Duplications The Neuroscience of Autism Spectrum Disorders. 347-359 |
| Wegiel J, Frackowiak J, Mazur-Kolecka B, et al. (2012) Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders. Plos One. 7: e35414 |
| Wegiel J, Schanen NC, Cook EH, et al. (2012) Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. Journal of Neuropathology and Experimental Neurology. 71: 382-97 |
| Urraca N, Davis L, Cook EH, et al. (2010) A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications. Genetic Testing and Molecular Biomarkers. 14: 571-6 |
| Hogart A, Wu D, LaSalle JM, et al. (2010) The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiology of Disease. 38: 181-91 |
| Wu DJ, Wang NJ, Driscoll J, et al. (2009) Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report. Molecular Cytogenetics. 2: 27 |