Published in Dtsch Arztebl Int on January 18, 2013
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The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer (2008) 2.95
Identification of Lynch syndrome among patients with colorectal cancer. JAMA (2012) 2.77
Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology (2009) 2.75
Risk of pancreatic cancer in families with Lynch syndrome. JAMA (2009) 2.32
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Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany. Digestion (2006) 0.99
No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer. Scand J Gastroenterol (2002) 0.95
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Intensive insulin therapy and pentastarch resuscitation in severe sepsis. N Engl J Med (2008) 19.93
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet (2010) 5.48
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet (2012) 5.28
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Retracted Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet (2003) 2.70
Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol (2012) 2.59
Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2009) 2.47
Practice and perception--a nationwide survey of therapy habits in sepsis. Crit Care Med (2008) 2.43
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
Optimization of quantitative MGMT promoter methylation analysis using pyrosequencing and combined bisulfite restriction analysis. J Mol Diagn (2007) 2.35
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet (2003) 2.27
Acute renal failure in patients with severe sepsis and septic shock--a significant independent risk factor for mortality: results from the German Prevalence Study. Nephrol Dial Transplant (2007) 2.25
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
Effects of glucagon-like peptide 1 on counterregulatory hormone responses, cognitive functions, and insulin secretion during hyperinsulinemic, stepped hypoglycemic clamp experiments in healthy volunteers. J Clin Endocrinol Metab (2002) 2.18
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis. J Natl Cancer Inst (2013) 2.13
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat (2005) 2.09
Gene expression profiling of microdissected pancreatic ductal carcinomas using high-density DNA microarrays. Neoplasia (2004) 2.08
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev (2011) 1.99
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Meta-analysis of microarray data on pancreatic cancer defines a set of commonly dysregulated genes. Oncogene (2005) 1.89
19p13.1 is a triple-negative-specific breast cancer susceptibility locus. Cancer Res (2012) 1.81
Genetic contribution to variation in cognitive function: an FMRI study in twins. Science (2009) 1.81
Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet (2008) 1.80
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol (2003) 1.70
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol (2006) 1.70
Acquired resistance to imatinib in gastrointestinal stromal tumours caused by multiple KIT mutations. Lancet Oncol (2005) 1.67
Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression. Biol Psychiatry (2005) 1.61
Array-based comparative genomic hybridization reveals recurrent chromosomal aberrations and Jab1 as a potential target for 8q gain in hepatocellular carcinoma. Carcinogenesis (2005) 1.59
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet (2008) 1.58
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer (2003) 1.54
Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol (2009) 1.54
Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study. Int J Colorectal Dis (2006) 1.54
Reproducibility of immunohistochemical scoring for epidermal growth factor receptor expression in non-small cell lung cancer: round robin test. Arch Pathol Lab Med (2012) 1.53
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2011) 1.51
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Hum Genet (2002) 1.50
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol (2002) 1.48
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer (2006) 1.46
EGFR mutation detection in NSCLC--assessment of diagnostic application and recommendations of the German Panel for Mutation Testing in NSCLC. Virchows Arch (2010) 1.45
No association between the serine racemase gene (SRR) and schizophrenia in a German case-control sample. Psychiatr Genet (2007) 1.42
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol (2002) 1.41
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2004) 1.40
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet (2013) 1.39
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Res (2012) 1.38
Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis. Eur J Hum Genet (2004) 1.37
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol (2005) 1.35
FlhA provides the adaptor for coordinated delivery of late flagella building blocks to the type III secretion system. Proc Natl Acad Sci U S A (2010) 1.35
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet (2005) 1.35
Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn (2004) 1.33
Loss of Swiss cheese/neuropathy target esterase activity causes disruption of phosphatidylcholine homeostasis and neuronal and glial death in adult Drosophila. J Neurosci (2005) 1.33
HNPCC-associated small bowel cancer: clinical and molecular characteristics. Gastroenterology (2005) 1.32
The power of sample size and homogenous sampling: association between the 5-HTTLPR serotonin transporter polymorphism and major depressive disorder. Biol Psychiatry (2005) 1.31
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet (2002) 1.29
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. Hum Mutat (2004) 1.29
Targeted expression of mutated ALK induces neuroblastoma in transgenic mice. Sci Transl Med (2012) 1.28
An Ambystoma mexicanum EST sequencing project: analysis of 17,352 expressed sequence tags from embryonic and regenerating blastema cDNA libraries. Genome Biol (2004) 1.26
Mutation analysis of gastrointestinal stromal tumors: increasing significance for risk assessment and effective targeted therapy. Virchows Arch (2007) 1.26
CLCN2 variants in idiopathic generalized epilepsy. Nat Genet (2009) 1.26
The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet (2003) 1.26
Metabotropic glutamate receptor 3 (GRM3) gene variation is not associated with schizophrenia or bipolar affective disorder in the German population. Am J Med Genet (2002) 1.25
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet (2008) 1.25
Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer (2003) 1.23
Her-2/neu gene amplification and protein expression in primary male breast cancer. Breast Cancer Res Treat (2004) 1.23
Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). Hum Mutat (2007) 1.23
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum Mol Genet (2008) 1.23
The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study. Breast Cancer Res (2012) 1.22
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res (2011) 1.22
Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes. Am J Psychiatry (2005) 1.21
A framework for identification of actionable cancer genome dependencies in small cell lung cancer. Proc Natl Acad Sci U S A (2012) 1.21
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. Cancer Res (2012) 1.21
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer (2005) 1.20
Cell-autonomous and non-cell-autonomous mechanisms of transformation by amplified FGFR1 in lung cancer. Cancer Discov (2013) 1.18