Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …
clinical features commonly known as Down syndrome (DS). DS is among the most …
Down syndrome—A narrative review with a focus on anatomical features
A Arumugam, K Raja, M Venugopalan… - Clinical …, 2016 - Wiley Online Library
Down syndrome (DS) is the most common aneuploidy of chromosome 21, characterized by
the presence of an extra copy of that chromosome (trisomy 21). Children with DS present …
the presence of an extra copy of that chromosome (trisomy 21). Children with DS present …
The challenge of Down syndrome
SE Antonarakis, CJ Epstein - Trends in molecular medicine, 2006 - cell.com
Down syndrome (DS) has been recognized as a clinical entity for about 150 years, but it is
only recently that there has been hope for the possibility to understand its pathogenesis and …
only recently that there has been hope for the possibility to understand its pathogenesis and …
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
JO Korbel, T Tirosh-Wagner… - Proceedings of the …, 2009 - National Acad Sciences
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex
clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to …
clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to …
Trisomy 21 and Down syndrome: a short review
CA Sommer, F Henrique-Silva - Brazilian Journal of Biology, 2008 - SciELO Brasil
Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes
remain obscure, the characterization of the genes and conserved non-genic sequences of …
remain obscure, the characterization of the genes and conserved non-genic sequences of …
[HTML][HTML] Down syndrome–genetics and cardiogenetics
V Plaiasu - Maedica, 2017 - ncbi.nlm.nih.gov
During the last years, Down syndrome has been the focus of special attention. Down
syndrome is a genetic disorder characterized by distinct physical features and some degree …
syndrome is a genetic disorder characterized by distinct physical features and some degree …
[HTML][HTML] The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome
A Mégarbané, A Ravel, C Mircher, F Sturtz, Y Grattau… - Genetics in …, 2009 - Elsevier
Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all
or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most …
or part of an extra Chromosome 21. It is a common birth defect, the most frequent and most …
[HTML][HTML] Down syndrome and the complexity of genome dosage imbalance
SE Antonarakis - Nature Reviews Genetics, 2017 - nature.com
Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …
gain dosage imbalances, including microduplications. The functional genomic exploration of …
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21
CM Li, M Guo, M Salas, N Schupf, W Silverman… - BMC medical …, 2006 - Springer
Background Down syndrome (DS) is caused by trisomy 21 (+ 21), but the aberrations in
gene expression resulting from this chromosomal aneuploidy are not yet completely …
gene expression resulting from this chromosomal aneuploidy are not yet completely …
[HTML][HTML] Dementia in Down syndrome: unique insights for Alzheimer disease research
IT Lott, E Head - Nature Reviews Neurology, 2019 - nature.com
Virtually all adults with Down syndrome (DS) show the neuropathological changes of
Alzheimer disease (AD) by the age of 40 years. This association is partially due to …
Alzheimer disease (AD) by the age of 40 years. This association is partially due to …