The overall aim of the Genetics Core is to provide cytogenetic and genetic characterization of program project participants for studies of aging and dementia in adults with Down syndrome and to provide cytogenetic characterization of animal subjects and brain tissue. This will include cytogenetic analyses of newly recruited adults with Down syndrome and of continuing participants who have not previously received cytogenetic confirmation of Trisomy 21. We will employ both standard karyotyping as well as nuclear fluorescence in situ hybridization (FISH) studies.
| Schupf, Nicole; Lee, Joseph H; Pang, Deborah et al. (2018) Epidemiology of estrogen and dementia in women with Down syndrome. Free Radic Biol Med 114:62-68 |
| Babulal, Ganesh M; Quiroz, Yakeel T; Albensi, Benedict C et al. (2018) Perspectives on ethnic and racial disparities in Alzheimer's disease and related dementias: Update and areas of immediate need. Alzheimers Dement : |
| Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah et al. (2017) Outcome Measures for Clinical Trials in Down Syndrome. Am J Intellect Dev Disabil 122:247-281 |
| Do, Catherine; Xing, Zhuo; Yu, Y Eugene et al. (2017) Trans-acting epigenetic effects of chromosomal aneuploidies: lessons from Down syndrome and mouse models. Epigenomics 9:189-207 |
| Lee, Joseph H; Lee, Annie J; Dang, Lam-Ha et al. (2017) Candidate gene analysis for Alzheimer's disease in adults with Down syndrome. Neurobiol Aging 56:150-158 |
| Jenkins, Edmund C; Ye, Lingling; Krinsky-McHale, Sharon J et al. (2016) Telomere longitudinal shortening as a biomarker for dementia status of adults with Down syndrome. Am J Med Genet B Neuropsychiatr Genet 171B:169-74 |
| Mendioroz, Maite; Do, Catherine; Jiang, Xiaoling et al. (2015) Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models. Genome Biol 16:263 |
| Schupf, Nicole; Lee, Annie; Park, Naeun et al. (2015) Candidate genes for Alzheimer's disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome. Neurobiol Aging 36:2907.e1-10 |
| Krinsky-McHale, Sharon J; Silverman, Wayne; Gordon, James et al. (2014) Vision deficits in adults with Down syndrome. J Appl Res Intellect Disabil 27:247-63 |
| Hobbs, Charlotte A; Chowdhury, Shimul; Cleves, Mario A et al. (2014) Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA Pediatr 168:371-7 |
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