Now showing items 1-5 of 5
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
(BMJ Publishing Group, 2010-09)
Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families ...
Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders
<p>Background: Despite its estimated high heritability, the genetic architecture leading to differences in cognitive performance remains poorly understood. Different cortical regions play important roles in normal cognitive ...
Identification and characterisation of regionally enriched cortex genes in the rat brain
(The University of Bergen, 2012-06-14)
Extra-colonic cancers in Lynch Syndrome
(The University of Bergen, 2010-11-12)
Lynch Syndrome (LS) is the most common of the hereditary colorectal cancer (CRC) syndromes. It is caused by germ-line mutations in one of the four mismatch repair (MMR) genes MLHl, MSH2, MSH6 or PMS2. Mutations in one of ...
CDR2 antigen and Yo antibodies
Paraneoplastic cerebellar degeneration (PCD) is often associated with Yo antibodies that are directed against human cerebellar degeneration-related protein 2 (CDR2). Such antibodies may also be found in ovarian cancer ...