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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports
|
|---|---|
| Published in |
Journal of Medical Case Reports, December 2011
|
| DOI | 10.1186/1752-1947-5-577 |
| Pubmed ID | |
| Authors |
Julia Vogt, Rosa Nguyen, Lan Kluwe, Martin Schuhmann, Angelika C Roehl, Tanja Mußotter, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki |
| Abstract |
Large deletions of the NF1 gene and its flanking regions are frequently associated with a severe clinical manifestation. Different types of gross NF1 deletion have been identified that are distinguishable both by their size and the number of genes included within the deleted regions. Type-1 NF1 deletions encompass 1.4 Mb and include 14 genes, whereas the much less common type-2 NF1 deletions span 1.2 Mb and contain 13 genes. Genotype-phenotype correlations in patients with large NF1 deletions are likely to be influenced by the nature and number of the genes deleted in addition to the NF1 gene. Whereas the clinical phenotype associated with type-1 NF1 deletions has been well documented, the detailed clinical characterization of patients with non-mosaic type-2 NF1 deletions has not so far been reported. |
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 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 12 | 60% |
| Other | 1 | 5% |
| Student > Ph. D. Student | 1 | 5% |
| Student > Master | 1 | 5% |
| Researcher | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 2 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Unspecified | 9 | 45% |
| Medicine and Dentistry | 5 | 25% |
| Biochemistry, Genetics and Molecular Biology | 1 | 5% |
| Chemistry | 1 | 5% |
| Nursing and Health Professions | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 3 | 15% |
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 15 December 2011.
All research outputs
#20,152,153
of 22,659,164 outputs
Outputs from Journal of Medical Case Reports
#3,444
of 3,875 outputs
Outputs of similar age
#220,045
of 242,260 outputs
Outputs of similar age from Journal of Medical Case Reports
#43
of 54 outputs
Altmetric has tracked 22,659,164 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,875 research outputs from this source. They receive a mean Attention Score of 3.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 54 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.