Behavioral phenotype of individuals with Down syndrome

RS Chapman, LJ Hesketh - Mental retardation and …, 2000 - Wiley Online Library
Evidence is reviewed for a developmentally‐emerging behavioral phenotype in individuals
with Down syndrome that includes significant delay in nonverbal cognitive development …

Atypical aging in Down syndrome

WB Zigman - Developmental disabilities research reviews, 2013 - Wiley Online Library
At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55
in the United States (US) who have significant needs for augmented services due to …

Down syndrome phenotypes: the consequences of chromosomal imbalance.

JR Korenberg, XN Chen, R Schipper… - Proceedings of the …, 1994 - National Acad Sciences
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease.
Besides a characteristic set of facial and physical features, DS is associated with congenital …

Down syndrome, partial trisomy 21, and absence of Alzheimer's disease: the role of APP

E Doran, D Keator, E Head, MJ Phelan… - Journal of …, 2017 - content.iospress.com
Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down
syndrome (DS) has been linked to increased brain amyloid levels and early-onset …

Hydrogen sulfide as a neuromodulator

H Kimura - Molecular neurobiology, 2002 - Springer
Hydrogen sulfide (H 2 S) is a well-known toxic gas with the smell of rotten eggs. Since the
first description of the toxicity of H 2 S in 1713, most studies about H 2 S have been devoted …

Molecular genetic analysis of Down syndrome

D Patterson - Human genetics, 2009 - Springer
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 …

Molecular mapping of twenty-four features of Down syndrome on chromosome 21

JM Delabar, D Theophile, Z Rahmani… - European journal of …, 1993 - karger.com
Abstract To determine which regions of chromosome 21 are involved in the pathogenesis of
specific features of Down syndrome, we analysed, phenotypically and molecularly, 10 …

[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 …

Alzheimer's disease in Down syndrome: neurobiology and risk

WB Zigman, IT Lott - Mental retardation and developmental …, 2007 - Wiley Online Library
Down syndrome (DS) is characterized by increased mortality rates, both during early and
later stages of life, and age‐specific mortality risk remains higher in adults with DS …

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

R Lyle, F Béna, S Gagos, C Gehrig, G Lopez… - European Journal of …, 2009 - nature.com
Down syndrome (DS) is one of the most frequent congenital birth defects, and the most
common genetic cause of mental retardation. In most cases, DS results from the presence of …