Literature DB >> 12699967

Down's syndrome.

Nancy J Roizen1, David Patterson.   

Abstract

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world.

Entities:  

Mesh:

Year:  2003        PMID: 12699967     DOI: 10.1016/S0140-6736(03)12987-X

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  269 in total

1.  Altered distribution of hippocampal interneurons in the murine Down Syndrome model Ts65Dn.

Authors:  Samuel Hernández-González; Raúl Ballestín; Rosa López-Hidalgo; Javier Gilabert-Juan; José Miguel Blasco-Ibáñez; Carlos Crespo; Juan Nácher; Emilio Varea
Journal:  Neurochem Res       Date:  2014-11-16       Impact factor: 3.996

2.  Narrative Skill in Boys with Fragile X Syndrome with and without Autism Spectrum Disorder.

Authors:  Bruno Estigarribia; Gary E Martin; Joanne E Roberts; Amy Spencer; Agnieszka Gucwa; John Sideris
Journal:  Appl Psycholinguist       Date:  2011

Review 3.  Role of phosphoinositides at the neuronal synapse.

Authors:  Samuel G Frere; Belle Chang-Ileto; Gilbert Di Paolo
Journal:  Subcell Biochem       Date:  2012

Review 4.  Functions of noncoding RNAs in neural development and neurological diseases.

Authors:  Shan Bian; Tao Sun
Journal:  Mol Neurobiol       Date:  2011-10-04       Impact factor: 5.590

5.  Cortical and trabecular bone at the radius and tibia in male and female adolescents with Down syndrome: a peripheral quantitative computed tomography (pQCT) study.

Authors:  A González-Agüero; G Vicente-Rodríguez; A Gómez-Cabello; J A Casajús
Journal:  Osteoporos Int       Date:  2012-06-09       Impact factor: 4.507

6.  Language Characteristics of Individuals with Down Syndrome.

Authors:  Gary E Martin; Jessica Klusek; Bruno Estigarribia; Joanne E Roberts
Journal:  Top Lang Disord       Date:  2009-04

7.  Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome.

Authors:  Jisook Moon; May Chen; Shruti U Gandhy; Myla Strawderman; David A Levitsky; Kenneth N Maclean; Barbara J Strupp
Journal:  Behav Neurosci       Date:  2010-06       Impact factor: 1.912

8.  Gait patterns in Prader-Willi and Down syndrome patients.

Authors:  Veronica Cimolin; Manuela Galli; Graziano Grugni; Luca Vismara; Giorgio Albertini; Chiara Rigoldi; Paolo Capodaglio
Journal:  J Neuroeng Rehabil       Date:  2010-06-21       Impact factor: 4.262

9.  Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins.

Authors:  Terry S Elton; Sarah E Sansom; Mickey M Martin
Journal:  RNA Biol       Date:  2010-09-01       Impact factor: 4.652

Review 10.  Malignancy in children with trisomy 21.

Authors:  Karen R Rabin; James A Whitlock
Journal:  Oncologist       Date:  2009-01-28
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