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Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2013
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Title
Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients
Published in
Orphanet Journal of Rare Diseases, April 2013
DOI 10.1186/1750-1172-8-54
Pubmed ID
Authors

Giovana Tardin Torrezan, Felipe Cavalcanti Carneiro da Silva, Érika Maria Monteiro Santos, Ana Cristina Victorino Krepischi, Maria Isabel Waddington Achatz, Samuel Aguiar Junior, Benedito Mauro Rossi, Dirce Maria Carraro

Abstract

Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations.

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X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 73 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 1%
South Africa 1 1%
Unknown 71 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 18%
Student > Ph. D. Student 8 11%
Student > Master 8 11%
Student > Bachelor 7 10%
Other 5 7%
Other 12 16%
Unknown 20 27%
Readers by discipline Count As %
Medicine and Dentistry 22 30%
Agricultural and Biological Sciences 15 21%
Biochemistry, Genetics and Molecular Biology 10 14%
Nursing and Health Professions 1 1%
Unspecified 1 1%
Other 2 3%
Unknown 22 30%
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 11 April 2013.
All research outputs
#15,268,549
of 22,705,019 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,776
of 2,600 outputs
Outputs of similar age
#125,039
of 199,925 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#22
of 34 outputs
Altmetric has tracked 22,705,019 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,600 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% 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 199,925 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.