| Title |
“Down syndrome: an insight of the disease”
|
|---|---|
| Published in |
Journal of Biomedical Science, June 2015
|
| DOI | 10.1186/s12929-015-0138-y |
| Pubmed ID | |
| Authors |
Ambreen Asim, Ashok Kumar, Srinivasan Muthuswamy, Shalu Jain, Sarita Agarwal |
| Abstract |
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article. Moreover, we have also reviewed various prenatal diagnostic method from karyotyping to rapid molecular methods - MLPA, FISH, QF-PCR, PSQ, NGS and noninvasive prenatal diagnosis in detail. |
X Demographics
The data shown below were collected from the profiles of 9 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 22% |
| India | 1 | 11% |
| United Kingdom | 1 | 11% |
| Unknown | 5 | 56% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 8 | 89% |
| Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Mendeley readers
The data shown below were compiled from readership statistics for 1,143 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | <1% |
| Unknown | 1142 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 272 | 24% |
| Student > Master | 95 | 8% |
| Student > Postgraduate | 60 | 5% |
| Student > Ph. D. Student | 51 | 4% |
| Other | 44 | 4% |
| Other | 138 | 12% |
| Unknown | 483 | 42% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 252 | 22% |
| Biochemistry, Genetics and Molecular Biology | 113 | 10% |
| Nursing and Health Professions | 78 | 7% |
| Agricultural and Biological Sciences | 39 | 3% |
| Psychology | 29 | 3% |
| Other | 123 | 11% |
| Unknown | 509 | 45% |
Attention Score in Context
This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 November 2022.
All research outputs
#2,226,645
of 25,371,288 outputs
Outputs from Journal of Biomedical Science
#82
of 1,100 outputs
Outputs of similar age
#27,840
of 280,836 outputs
Outputs of similar age from Journal of Biomedical Science
#1
of 19 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,100 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.0. This one has done particularly well, scoring higher than 92% of its peers.
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We're also able to compare this research output to 19 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 94% of its contemporaries.