Down Syndrome: Advances in Molecular Biology and the Neurosciences
1
Department of Pediatrics
3
Baltimore, Maryland, USA
|
Publication type: Journal Article
Publication date: 2011-04-11
scimago Q1
wos Q2
SJR: 0.804
CiteScore: 3.5
Impact factor: 2.2
ISSN: 0196206X, 15367312
PubMed ID:
11265922
Psychiatry and Mental health
Developmental and Educational Psychology
Pediatrics, Perinatology and Child Health
Abstract
The entire DNA sequence for human chromosome 21 is now complete, and it is predicted to contain only about 225 genes, which is approximately three-fold fewer than the number initially predicted just 10 years ago. Despite this remarkable achievement, very little is known about the mechanism(s) whereby increased gene copy number (gene dosage) results in the characteristic phenotype of Down syndrome. Although many of the phenotypic traits show large individual variation, neuromotor dysfunction and cognitive and language impairment are observed in virtually all individuals. Currently, there are no efficacious biomedical treatments for these central nervous system-associated impairments. To develop novel therapeutic strategies, the effects of gene dosage imbalance need to be understood within the framework of those critical biological events that regulate brain organization and function.
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73
Total citations:
73
Citations from 2024:
0
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GOST
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Capone G. T. Down Syndrome: Advances in Molecular Biology and the Neurosciences // Journal of Developmental and Behavioral Pediatrics. 2011. Vol. 22. No. 1. pp. 40-59.
GOST all authors (up to 50)
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Capone G. T. Down Syndrome: Advances in Molecular Biology and the Neurosciences // Journal of Developmental and Behavioral Pediatrics. 2011. Vol. 22. No. 1. pp. 40-59.
Cite this
RIS
Copy
TY - JOUR
DO - 10.1097/00004703-200102000-00007
UR - https://doi.org/10.1097/00004703-200102000-00007
TI - Down Syndrome: Advances in Molecular Biology and the Neurosciences
T2 - Journal of Developmental and Behavioral Pediatrics
AU - Capone, George T.
PY - 2011
DA - 2011/04/11
PB - Ovid Technologies (Wolters Kluwer Health)
SP - 40-59
IS - 1
VL - 22
PMID - 11265922
SN - 0196-206X
SN - 1536-7312
ER -
Cite this
BibTex (up to 50 authors)
Copy
@article{2011_Capone,
author = {George T. Capone},
title = {Down Syndrome: Advances in Molecular Biology and the Neurosciences},
journal = {Journal of Developmental and Behavioral Pediatrics},
year = {2011},
volume = {22},
publisher = {Ovid Technologies (Wolters Kluwer Health)},
month = {apr},
url = {https://doi.org/10.1097/00004703-200102000-00007},
number = {1},
pages = {40--59},
doi = {10.1097/00004703-200102000-00007}
}
Cite this
MLA
Copy
Capone, George T., et al. “Down Syndrome: Advances in Molecular Biology and the Neurosciences.” Journal of Developmental and Behavioral Pediatrics, vol. 22, no. 1, Apr. 2011, pp. 40-59. https://doi.org/10.1097/00004703-200102000-00007.