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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Overview of attention for article published in Molecular Cytogenetics, September 2014
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Title
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome
Published in
Molecular Cytogenetics, September 2014
DOI 10.1186/s13039-014-0059-6
Pubmed ID
Authors

Celine Dupont, Martine Bucourt, Fabien Guimiot, Lilia Kraoua, Daniel Smiljkovski, Dominique Le Tessier, Camille Lebugle, Benedicte Gerard, Emmanuel Spaggiari, Pierre Bourdoncle, Anne-Claude Tabet, Brigitte Benzacken, Jean-Michel Dupont

Abstract

Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene located in 8p21.1 have been found in several families. ESCO2, a member of the cohesion establishing complex, has a role in the effective cohesion between sister chromatids. In order to analyze sister chromatids topography during interphase, we performed 3D-FISH using pericentromeric heterochromatin probes of chromosomes 1, 4, 9 and 16, on preserved nuclei from a fetus with RBS carrying compound heterozygous null mutations in the ESCO2 gene.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 4%
Germany 1 4%
Unknown 25 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 26%
Researcher 4 15%
Student > Master 4 15%
Other 3 11%
Student > Bachelor 2 7%
Other 4 15%
Unknown 3 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 10 37%
Biochemistry, Genetics and Molecular Biology 8 30%
Medicine and Dentistry 3 11%
Arts and Humanities 1 4%
Neuroscience 1 4%
Other 1 4%
Unknown 3 11%
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 17 October 2014.
All research outputs
#17,728,987
of 22,766,595 outputs
Outputs from Molecular Cytogenetics
#209
of 400 outputs
Outputs of similar age
#170,129
of 252,704 outputs
Outputs of similar age from Molecular Cytogenetics
#7
of 7 outputs
Altmetric has tracked 22,766,595 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 400 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 41st percentile – i.e., 41% of its peers scored the same or lower than it.
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