You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, August 2011
|
| DOI | 10.1186/1750-1172-6-58 |
| Pubmed ID | |
| Authors |
Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjeldal |
| Abstract |
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a segregating MECP2 mutation, which affects female carriers with a phenotype of mental retardation or RTT, have been reported in the literature. In this study we describe two new RTT families with three and four individuals, respectively, and review the literature comparing the type of mutations and phenotypes observed in RTT families with those observed in sporadic cases. Based on these observations we also investigated origin of mutation segregation to further improve genetic counselling. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| China | 1 | 2% |
| Unknown | 46 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 10 | 21% |
| Student > Bachelor | 9 | 19% |
| Researcher | 6 | 13% |
| Student > Master | 6 | 13% |
| Other | 4 | 9% |
| Other | 7 | 15% |
| Unknown | 5 | 11% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 12 | 26% |
| Agricultural and Biological Sciences | 11 | 23% |
| Biochemistry, Genetics and Molecular Biology | 9 | 19% |
| Neuroscience | 3 | 6% |
| Social Sciences | 2 | 4% |
| Other | 4 | 9% |
| Unknown | 6 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 27 September 2018.
All research outputs
#4,835,465
of 25,373,627 outputs
Outputs from Orphanet Journal of Rare Diseases
#680
of 3,105 outputs
Outputs of similar age
#25,180
of 135,477 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 11 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,105 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done well, scoring higher than 77% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 135,477 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 63% of its contemporaries.