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Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

Overview of attention for article published in Einstein (São Paulo), March 2016
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Title
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
Published in
Einstein (São Paulo), March 2016
DOI 10.1590/s1679-45082016ao3592
Pubmed ID
27074231
Authors

Rodrigo Pratte-Santos, Katyanne Heringer Ribeiro, Thainá Altoe Santos, Terezinha Sarquis Cintra

Abstract

Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

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Mendeley readers

The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 41 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 9 22%
Student > Ph. D. Student 5 12%
Student > Doctoral Student 4 10%
Researcher 4 10%
Student > Master 4 10%
Other 5 12%
Unknown 10 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 13 32%
Agricultural and Biological Sciences 5 12%
Medicine and Dentistry 4 10%
Nursing and Health Professions 2 5%
Arts and Humanities 1 2%
Other 4 10%
Unknown 12 29%

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 April 2016.
All research outputs
#20,326,948
of 22,870,727 outputs
Outputs from Einstein (São Paulo)
#421
of 497 outputs
Outputs of similar age
#251,996
of 298,418 outputs
Outputs of similar age from Einstein (São Paulo)
#9
of 10 outputs
Altmetric has tracked 22,870,727 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 497 research outputs from this source. They receive a mean Attention Score of 3.7. This one is in the 1st percentile – i.e., 1% 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 298,418 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one.

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