Title |
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci
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Published in |
Clinical Epigenetics, November 2015
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DOI | 10.1186/s13148-015-0143-8 |
Pubmed ID | |
Authors |
Thomas Eggermann, Guiomar Perez de Nanclares, Eamonn R. Maher, I. Karen Temple, Zeynep Tümer, David Monk, Deborah J. G. Mackay, Karen Grønskov, Andrea Riccio, Agnès Linglart, Irène Netchine |
Abstract |
Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Ireland | 1 | 50% |
France | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 217 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 44 | 20% |
Student > Ph. D. Student | 31 | 14% |
Student > Master | 29 | 13% |
Researcher | 22 | 10% |
Student > Doctoral Student | 9 | 4% |
Other | 21 | 10% |
Unknown | 61 | 28% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 95 | 44% |
Medicine and Dentistry | 27 | 12% |
Agricultural and Biological Sciences | 21 | 10% |
Pharmacology, Toxicology and Pharmaceutical Science | 3 | 1% |
Social Sciences | 2 | <1% |
Other | 5 | 2% |
Unknown | 64 | 29% |