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Emiel A. M. Janssen

Researcher at Stavanger University Hospital

Publications -  162
Citations -  4381

Emiel A. M. Janssen is an academic researcher from Stavanger University Hospital. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 32, co-authored 133 publications receiving 3881 citations. Previous affiliations of Emiel A. M. Janssen include University of Bergen & University of Stavanger.

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Microsatellite instability in colorectal cancer

TL;DR: Microsatellite instability causes hereditary non‐polyposis colorectal cancer (HNPCC) and there is increased understanding of the clinicopathological consequences of MSI.
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The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

TL;DR: The sequence analysis of 11 additional familial cases is reported, which suggests that very severe phenotypes may be associated with null mutations in the gene, whereas mutations in alternative portions or missense mutations may give a "less severe" phenotype.
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X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

TL;DR: In this paper, the authors performed leucine loading, accompanied by fasting, in patients and observed a significant rise of 3-methylglutaconic acid and 3-mglutaric acid.
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De-novo mutation in hereditary motor and sensory neuropathy type I.

TL;DR: It is found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients.
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Trypsin in colorectal cancer: molecular biological mechanisms of proliferation, invasion, and metastasis

TL;DR: Biological understanding of colorectal carcinogenesis will be further illuminated and may pave the way for prognosticators, predictors, and novel targets of therapy.