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X Demographics
Mendeley readers
Attention Score in Context
| Title |
MECP2 duplication phenotype in symptomatic females: report of three further cases
|
|---|---|
| Published in |
Molecular Cytogenetics, January 2014
|
| DOI | 10.1186/1755-8166-7-10 |
| Pubmed ID | |
| Authors |
Francesca Novara, Alessandro Simonati, Federico Sicca, Roberta Battini, Simona Fiori, Annarita Contaldo, Lucia Criscuolo, Orsetta Zuffardi, Roberto Ciccone |
| Abstract |
Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with Xq28 duplication have been rarely reported and are usually asymptomatic. Altogether, only fifteen symptomatic females with Xq28 duplications including MECP2 have been reported so far: six of them had interstitial duplications while the remaining had a duplication due to an unbalanced X;autosome translocation. Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations. |
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 % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 3% |
| Italy | 1 | 3% |
| South Africa | 1 | 3% |
| Unknown | 27 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 20% |
| Student > Ph. D. Student | 5 | 17% |
| Student > Bachelor | 3 | 10% |
| Student > Doctoral Student | 2 | 7% |
| Lecturer | 1 | 3% |
| Other | 4 | 13% |
| Unknown | 9 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 7 | 23% |
| Biochemistry, Genetics and Molecular Biology | 4 | 13% |
| Psychology | 4 | 13% |
| Medicine and Dentistry | 3 | 10% |
| Social Sciences | 2 | 7% |
| Other | 2 | 7% |
| Unknown | 8 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 30 January 2014.
All research outputs
#20,655,488
of 25,371,288 outputs
Outputs from Molecular Cytogenetics
#251
of 423 outputs
Outputs of similar age
#244,876
of 322,933 outputs
Outputs of similar age from Molecular Cytogenetics
#18
of 36 outputs
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So far Altmetric has tracked 423 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
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