Title |
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics
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Published in |
BMC Medical Genomics, June 2014
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DOI | 10.1186/1755-8794-7-39 |
Pubmed ID | |
Authors |
Christina A Markunas, Eric Lock, Karen Soldano, Heidi Cope, Chien-Kuang C Ding, David S Enterline, Gerald Grant, Herbert Fuchs, Allison E Ashley-Koch, Simon G Gregory |
Abstract |
Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar herniation, it is hypothesized that this heterogeneous disorder is due to multiple genetic and environmental factors. The purpose of the present study was to gain a better understanding of what factors contribute to this heterogeneity by using an unsupervised statistical approach to define disease subtypes within a case-only pediatric population. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 36 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 5 | 14% |
Researcher | 5 | 14% |
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Unknown | 8 | 22% |
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Mathematics | 2 | 6% |
Other | 3 | 8% |
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