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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2012
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Title
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Published in
Orphanet Journal of Rare Diseases, October 2012
DOI 10.1186/1750-1172-7-82
Pubmed ID
Authors

Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera, Eduard Gallardo, Jordi Pascual, Edgard Verdura, Jaume Colomer, Montserrat Baiget, Montse Olivé, Pia Gallano

Abstract

Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the correlation between X-chromosome inactivation and development of clinical symptoms in a series of symptomatic female carriers of dystrophinopathy.

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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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 57 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 2%
Unknown 56 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 17 30%
Researcher 10 18%
Student > Bachelor 7 12%
Student > Master 5 9%
Other 4 7%
Other 11 19%
Unknown 3 5%
Readers by discipline Count As %
Medicine and Dentistry 19 33%
Biochemistry, Genetics and Molecular Biology 11 19%
Agricultural and Biological Sciences 10 18%
Neuroscience 3 5%
Nursing and Health Professions 2 4%
Other 8 14%
Unknown 4 7%
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 06 November 2012.
All research outputs
#17,670,096
of 22,684,168 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,994
of 2,597 outputs
Outputs of similar age
#134,603
of 183,408 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#20
of 25 outputs
Altmetric has tracked 22,684,168 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,597 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one is in the 8th percentile – i.e., 8% of its contemporaries scored the same or lower than it.