Department of Medical Genetics
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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma (American Association for Cancer Research, 2017-07-02)A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop these tumors ...
(Taylor & Francis, 2017-07-27)Expansions of polyglutamine (polyQ) tracts in different proteins cause 9 neurodegenerative conditions, such as Huntington disease and various ataxias. However, many normal mammalian proteins contain shorter polyQ tracts. ...
A comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status (Elsevier, 2017-07-06)Background and aims Hereditary Diffuse Gastric Cancer (HDGC) accounts for 1% of gastric cancer cases. For patients with a germline CDH1 mutation, risk-reducing gastrectomy is recommended. However, for those delaying surgery ...