Anna Dierking’s research while affiliated with Hannover Medical School and other places

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Publications (5)


Bericht über die Tätigkeit der Sprechstunde des ZSE Hannover 2015
  • Technical Report

December 2015

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151 Reads

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Astrid Spangenberg

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Anna Dierking

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[...]

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Jörg Schmidtke

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing

October 2015

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48 Reads

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8 Citations

European Journal of Human Genetics

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.


Table 1 Overview of diseases and genes associated with thoracic aortic aneurysm 
Table 2 Genes associated with thoracic aortic aneurysm not yet given an OMIM or Orpha number 
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
  • Article
  • Full-text available

October 2015

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237 Reads

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31 Citations

European Journal of Human Genetics

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

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The EuroGentest Clinical Utility Gene Cards continued

January 2013

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50 Reads

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17 Citations

European Journal of Human Genetics

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

Citations (4)


... As previous studies shown, α-smooth muscle actin (α-SMA), smooth muscle protein-22α (SM22α), calponin, and myosin heavy chain 11 (MYH11) are specific markers of contractile vascular SMCs. Although there are many hypotheses about the pathogenesis of AD, the exact cause is still unclear [8]. ...

Reference:

Long non-coding RNA HIF1A-AS2 modulates the proliferation, migration, and phenotypic switch of aortic smooth muscle cells in aortic dissection via sponging microRNA-33b
Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

European Journal of Human Genetics

... In light of all this evidence, new information on genetic variants may affect the clinical management of patients who have had genetic testing in the past. Although there is currently no consensus as to when and how often variants should be reclassified, 40 variant reclassification in previously published cohorts and work with curators of variant databases to update the information for the erroneously classified variants has become an important task in modern genetics. Moreover, when using information about previously published variants associated with a condition for variant classification (e.g., to determine mutational hotspots or variants affecting the same codon), their pathogenicity should also be evaluated critically. ...

New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing
  • Citing Article
  • October 2015

European Journal of Human Genetics

... A formal assessment was defined as a systematic and standardized process using health Gene Cards (15,16) and the similar National Center for Biotechnology Information GeneReviews were excluded as their focus is on guiding individual clinician decision-making (15,17,18). Omics tests encompass genomics, transcriptomics, proteomics, and metabolomics. ...

The EuroGentest Clinical Utility Gene Cards continued

European Journal of Human Genetics