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The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. Korbel JO, et al. Among authors: doran e. Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13. Proc Natl Acad Sci U S A. 2009. PMID: 19597142 Free PMC article.
Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease.
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls TT, Andersen SL, Zmuda JM, Thyagarajan B, Yashin A, Wojczynski MK, Krinsky-McHale S, Handen BL, Christian BT, Head E, Mapstone ME, Schupf N, Lee JH, Barral S; Long‐Life Family Study (LLFS); Alzheimer's Disease Genetic Consortium (ADGC); Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS). Xicota L, et al. Alzheimers Dement. 2024 Apr;20(4):2670-2679. doi: 10.1002/alz.13718. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380866 Free PMC article.
Beta-amyloid, oxidative stress and down syndrome.
Lott IT, Head E, Doran E, Busciglio J. Lott IT, et al. Among authors: doran e. Curr Alzheimer Res. 2006 Dec;3(5):521-8. doi: 10.2174/156720506779025305. Curr Alzheimer Res. 2006. PMID: 17168651 Review.
Down syndrome and dementia: seizures and cognitive decline.
Lott IT, Doran E, Nguyen VQ, Tournay A, Movsesyan N, Gillen DL. Lott IT, et al. Among authors: doran e. J Alzheimers Dis. 2012;29(1):177-85. doi: 10.3233/JAD-2012-111613. J Alzheimers Dis. 2012. PMID: 22214782 Free PMC article.
Self-concept in children with Down syndrome.
Saha S, Doran E, Osann KE, Hom C, Movsesyan N, Rosa DD, Tournay A, Lott IT. Saha S, et al. Among authors: doran e. Am J Med Genet A. 2014 Aug;164A(8):1891-8. doi: 10.1002/ajmg.a.36597. Epub 2014 May 16. Am J Med Genet A. 2014. PMID: 24838927 Free PMC article.
161 results