Molecular genetic analysis of Down syndrome

@article{Patterson2009MolecularGA,
  title={Molecular genetic analysis of Down syndrome},
  author={D. Patterson},
  journal={Human Genetics},
  year={2009},
  volume={126},
  pages={195-214}
}
  • D. Patterson
  • Published 2009
  • Biology, Medicine
  • Human Genetics
  • Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (HSA21) and is the most common genetic cause of significant intellectual disability. In addition to intellectual disability, many other health problems, such as congenital heart disease, Alzheimer’s disease, leukemia, hypotonia, motor disorders, and various physical anomalies occur at an elevated frequency in people with DS. On the other hand, people with DS seem to be at a decreased risk of certain cancers and… CONTINUE READING
    205 Citations
    Recent Advances in Research on Down Syndrome
    • PDF
    Insights into mouse models of human Down syndrome
    • Highly Influenced
    Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
    • 47
    Neurological phenotypes for Down syndrome across the life span.
    • I. Lott
    • Psychology, Medicine
    • Progress in brain research
    • 2012
    • 139
    Gr upSM Hematological Manifestation in Down Syndrome
    • PDF
    Risk factors for Down syndrome
    • 27

    References

    SHOWING 1-10 OF 190 REFERENCES
    Protein expression in Down syndrome brain
    • 56
    Genetic mechanisms involved in the phenotype of Down syndrome.
    • D. Patterson
    • Biology, Medicine
    • Mental retardation and developmental disabilities research reviews
    • 2007
    • 40
    Protein Variations Associated with Down's Syndrome, Chromosome 21, and Alzheimer's Disease *
    • 21
    Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
    • 229
    Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1.
    • 71
    • PDF
    Down syndrome congenital heart disease: A narrowed region and a candidate gene
    • 164
    • Highly Influential
    • PDF
    Systemic pathology in aged mouse models of Down's syndrome and Alzheimer's disease.
    • 22
    • PDF
    Down's syndrome
    • 812
    • Highly Influential
    Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes.
    • 227
    • Highly Influential
    • PDF
    Mental retardation and associated neurological dysfunctions in Down syndrome: a consequence of dysregulation in critical chromosome 21 genes and associated molecular pathways.
    • M. Rachidi, C. Lopes
    • Biology, Medicine
    • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
    • 2008
    • 89