Down Syndrome: Scientific Articles

Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers.

  • Ahmed, M. M., Dhanasekaran, A. R., Tong, S., Wiseman, F. K., Fisher, E. M., Tybulewicz, V. L., et al. (2013). Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain. Human Molecular Genetics, 22(9), 1709–1724. PMID: 23349361
  • Di Domenico, F., Coccia, R., Cocciolo, A., Murphy, M. P., Cenini, G., Head, E., et al. (2013). Impairment of proteostasis network in Down syndrome prior to the development of Alzheimer's disease neuropathology: Redox proteomics analysis of human brain. Biochimica e Biophysica Acta, 1832(8), 1249–1259. PMID: 23603808
  • Hollis, N. D., Allen, E. G., Oliver, T. R., Tinker, S. W., Druschel, C., Hobbs, C. A., et al. (2013). Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project. American Journal of Medical Genetics. Part A, 161(3), 438–444. PMID: 23401135
  • Spellman, C., Ahmed, M. M., Dubach, D., & Gardiner, K. J. (2013). Expression of trisomic proteins in Down syndrome model systems. Gene, 512(2), 219–225. PMID: 23103828
  • Tyler, W. A., & Haydar, T. F. (2013). Multiplex genetic fate mapping reveals a novel route of neocortical neurogenesis, which is altered in the Ts65Dn mouse model of Down syndrome. Journal of Neuroscience, 33(12), 5106–5119. PMID: 23516277
  • Ackerman, C., Locke, A. E., Feingold, E., Reshey, B., Espana, K., Thusberg, J., et al. (2012). An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American Journal of Human Genetics, 91(4), 646–659. PMID: 23040494
  • Ahmed, M. M., Sturgeon, X., Ellison, M., Davisson, M. T., & Gardiner, K. J. (2012). Loss of correlations among proteins in brains of the Ts65Dn mouse model of Down syndrome. Journal of Proteome Research, 11, 1251–1263. PMID: 22214338
  • Boada, R., Hutaff-Lee, C., Schrader, A., Weitzenkamp, D., Benke, T. A., Goldson, E. J., et al. (2012). Antagonism of NMDA receptors as a potential treatment for Down syndrome: A pilot randomized controlled trial. Translational Psychiatry, 2, e141. PMID: 22806212
  • Boghossian, N. S., Horbar, J. D., Carpenter, J. H., Murray, J. C., & Bell, E. F.; Vermont Oxford Network. (2012). Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network. Journal of Pediatrics, 160(5), 774–780. PMID: 22177989
  • Cossec, J. C., Lavaur, J., Berman, D. E., Rivals, I., Hoischen, A., Stora, S., et al. (2012). Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Human Molecular Genetics, 21(14), 3156–3172. PMID: 22511594
  • Costa, A. C. (2012). Alzheimer disease: Treatment of Alzheimer disease in Down syndrome. Nature Reviews: Neurology, 8, 182–184. PMID: 22410580
  • Dowjat, K., Adayev, T., Kaczmarski, W., Wegiel, J., & Hwang, Y. W. (2012). Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients. Journal of Neuropathology and Experimental Neurology, 71(12), 1100–1112. PMID: 23147510
  • Hui, L., Slonim, D. K., Wick, H. C., Johnson, K. L., Koide, K., & Bianchi, D. W. (2012). Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21. Human Genetics, 131(11), 1751–1759. PMID: 22752091
  • Incerti, M., Horowitz, K., Roberson, R., Abebe, D., Toso, L., Caballero, M., et al. (2012). Prenatal treatment prevents learning deficit in Down syndrome model. PLoS One, 7(11), e50724. PMID: 23209818
  • Jenkins, E. C., Ye, L., Velinov, M., Krinksy-McHale, S. J., Zigman, W. B., Schupf, N., et al. (2012). Mild cognitive impairment identified in older individuals with Down syndrome by reduced telomere signal numbers and shorter telomeres measured in microns. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 159B, 598–604. PMID: 22592955
  • Ringenbach, S. D., Mulvey, G. M., Chen, C. C., & Jung, M. L. (2012). Unimanual and bimanual continuous movements benefit from visual instructions in persons with Down syndrome. Journal of Motor Behavior, 44(4), 233–239. PMID: 22616749
  • Roberson, R., Kuddo, T., Horowitz, K., Caballero, M., & Spong, C. Y. (2012). Cytokine and chemokine alterations in Down syndrome. American Journal of Perinatology, 29(9), 705–708. PMID: 22644827
  • Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., et al. (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine, 367(23), 2175–2184. PMID: 23215555
  • Whitney, K. N., & Wenger, G. R. (2012). Working memory in the aged Ts65Dn mouse, a model for Down syndrome. Behavioural Brain Research, 232(1), 202–209. PMID: 22503781
  • Oster-Granite, M. L., Parisi, M. A., Abbeduto, L., Berlin, D. S., Bodine, C., Bynum, D., et al. (2011). Down syndrome: National conference on patient registries, research databases, and biobanks. Molecular Genetics and Metabolism, 104, 13–22. PMID: 21835664
  • Scott-McKean, J. J., & Costa, A. C. (2011). Exaggerated NMDA mediated LTD in a mouse model of Down syndrome and pharmacological rescuing by memantine. Learning & Memory, 18, 774–778. PMID: 22101180
  • Urv, T. K., Zigman, W. B., & Silverman, W. (2010). Psychiatric symptoms in adults with Down syndrome and Alzheimer’s disease. American Journal on Intellectual and Developmental Disabilities, 115, 265–276. PMID: 20597723

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