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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

Overview of attention for article published in Molecular Cytogenetics, June 2012
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Citations

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Title
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
Published in
Molecular Cytogenetics, June 2012
DOI 10.1186/1755-8166-5-30
Pubmed ID
Authors

Milene Vianna Mulatinho, Cassio Luiz de Carvalho Serao, Fernanda Scalco, David Hardekopf, Sona Pekova, Kristin Mrasek, Thomas Liehr, Anja Weise, Nagesh Rao, Juan Clinton Llerena

Abstract

Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure. An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH.

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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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 2 5%
Italy 1 2%
Unknown 41 93%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 16%
Student > Ph. D. Student 5 11%
Researcher 4 9%
Student > Doctoral Student 4 9%
Professor 4 9%
Other 11 25%
Unknown 9 20%
Readers by discipline Count As %
Medicine and Dentistry 10 23%
Agricultural and Biological Sciences 7 16%
Biochemistry, Genetics and Molecular Biology 6 14%
Neuroscience 5 11%
Veterinary Science and Veterinary Medicine 1 2%
Other 5 11%
Unknown 10 23%
Attention Score in Context

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 12 June 2012.
All research outputs
#18,308,895
of 22,668,244 outputs
Outputs from Molecular Cytogenetics
#234
of 399 outputs
Outputs of similar age
#129,085
of 167,349 outputs
Outputs of similar age from Molecular Cytogenetics
#3
of 4 outputs
Altmetric has tracked 22,668,244 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 399 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.
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 167,349 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 9th percentile – i.e., 9% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one.