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 …

Language development in Down syndrome: From the prelinguistic period to the acquisition of literacy

L Abbeduto, SF Warren… - Mental retardation and …, 2007 - Wiley Online Library
Down syndrome (DS) is associated with abnormalities in multiple organ systems and a
characteristic phenotype that includes numerous behavioral features. Language, however …

Language characteristics of individuals with Down syndrome

GE Martin, J Klusek, B Estigarribia… - Topics in language …, 2009 - journals.lww.com
On average, language and communication characteristics of individuals with Down
syndrome (the most common genetic cause of intellectual disability) follow a consistent …

Language and communication development in Down syndrome

JE Roberts, J Price, C Malkin - Mental retardation and …, 2007 - Wiley Online Library
Although there is considerable variability, most individuals with Down syndrome have
mental retardation and speech and language deficits, particularly in language production …

[HTML][HTML] Nurturing brain plasticity: impact of environmental enrichment

L Baroncelli, C Braschi, M Spolidoro… - Cell Death & …, 2010 - nature.com
Environmental enrichment (EE) is known to profoundly affect the central nervous system
(CNS) at the functional, anatomical and molecular level, both during the critical period and …

[图书][B] Study Guide for Understanding Pathophysiology-E-Book: Study Guide for Understanding Pathophysiology-E-Book

SE Huether, KL McCance, CF Parkinson - 2011 - books.google.com
Designed to be used in tandem with the Understanding Pathophysiology, 5th Edition
textbook, this study guide provides an in-depth review of the most important pathophysiology …

[HTML][HTML] Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A

Y Ogawa, Y Nonaka, T Goto, E Ohnishi… - Nature …, 2010 - nature.com
Dyrk1A (dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A) is a
serine/threonine kinase essential for brain development and function, and its excessive …

Role of hormones, genes, and environment in human cryptorchidism

C Foresta, D Zuccarello, A Garolla, A Ferlin - Endocrine reviews, 2008 - academic.oup.com
Cryptorchidism is the most frequent congenital birth defect in male children (2–4% in full-
term male births), and it has the potential to impact the health of the human male. In fact …

[HTML][HTML] DSCAM is a netrin receptor that collaborates with DCC in mediating turning responses to netrin-1

A Ly, A Nikolaev, G Suresh, Y Zheng… - Cell, 2008 - cell.com
During nervous system development, spinal commissural axons project toward and across
the ventral midline. They are guided in part by netrin-1, made by midline cells, which attracts …

[HTML][HTML] The GABAergic hypothesis for cognitive disabilities in Down syndrome

A Contestabile, S Magara, L Cancedda - Frontiers in cellular …, 2017 - frontiersin.org
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …