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  1. No Access

    Article

    A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome

    Christian Johannes Hartmann, Barbara Leube, Lars Wojtecki… in Journal of Neurology (2011)

  2. No Access

    Article

    Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

    Missense mutations of the DNA mismatch repair gene MLH1 are found in a significant fraction of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer, HNPCC) and their pathogenicity often remains...

    Karin Hardt, Sven Boris Heick, Beate Betz, Timm Goecke… in Familial Cancer (2011)

  3. Article

    Open Access

    Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study

    Ghrelin, an endogenous ligand for the growth hormone secretagogue receptor (GHSR), has two major functions: the stimulation of the growth hormone production and the stimulation of food intake. Accumulating evi...

    Daniele Campa, Barbara Pardini, Alessio Naccarati… in BMC Gastroenterology (2010)

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  4. No Access

    Article

    Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2

    Hereditary non-polyposis colorectal cancer, an autosomal dominant predisposition to colorectal cancer and other malignancies, is caused by inactivating mutations of DNA mismatch repair genes, mainly MLH1 and MSH2

    Beate Betz, Stephan Theiss, Murat Aktas… in Journal of Cancer Research and Clinical On… (2010)