Published in Eur J Hum Genet on January 01, 2006
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med (2009) 3.57
Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. J Mol Diagn (2011) 1.27
An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers. PLoS One (2010) 1.26
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA). BMC Bioinformatics (2008) 0.97
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. Eur J Hum Genet (2009) 0.87
Applicability of next generation sequencing technology in microsatellite instability testing. Genes (Basel) (2015) 0.85
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn (2008) 0.84
Poly(A) motif prediction using spectral latent features from human DNA sequences. Bioinformatics (2013) 0.82
MLPAstats: an R GUI package for the integrated analysis of copy number alterations using MLPA data. BMC Bioinformatics (2011) 0.81
Stability of BAT26 in Lynch syndrome colorectal tumours. Eur J Hum Genet (2006) 0.76
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat (2008) 5.52
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
Stroke-unit care for acute stroke patients: an observational follow-up study. Lancet (2007) 3.67
Increased survival of cirrhotic patients with a hepatocellular carcinoma detected during surveillance. Gastroenterology (2004) 2.91
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. Gastroenterology (2004) 2.90
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Liver disease in cystic fibrosis: A prospective study on incidence, risk factors, and outcome. Hepatology (2002) 2.74
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
The natural history of compensated cirrhosis due to hepatitis C virus: A 17-year cohort study of 214 patients. Hepatology (2006) 2.35
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Proposal of a novel system for the staging of thymic epithelial tumors. Ann Thorac Surg (2005) 2.19
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet (2009) 2.13
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
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet (2013) 1.88
Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation. Eur Heart J (2006) 1.82
Human MRE11 is inactivated in mismatch repair-deficient cancers. EMBO Rep (2002) 1.80
Long-term suppression of hepatitis B e antigen-negative chronic hepatitis B by 24-month interferon therapy. Hepatology (2003) 1.78
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A (2013) 1.72
Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis. Gastrointest Endosc (2008) 1.69
US-elastography in the differential diagnosis of benign and malignant thyroid nodules. Thyroid (2008) 1.63
Long-term prevention of mortality in morbid obesity through bariatric surgery. a systematic review and meta-analysis of trials performed with gastric banding and gastric bypass. Ann Surg (2011) 1.63
Deferiprone versus deferoxamine in patients with thalassemia major: a randomized clinical trial. Blood Cells Mol Dis (2002) 1.63
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant (2009) 1.62
Uncovered transjugular intrahepatic portosystemic shunt for refractory ascites: a meta-analysis. Gastroenterology (2005) 1.59
Potential myocardial iron content evaluation by magnetic resonance imaging in thalassemia major patients treated with Deferoxamine or Deferiprone during a randomized multicenter prospective clinical study. Hemoglobin (2003) 1.56
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet (2010) 1.56
Mutations of an intronic repeat induce impaired MRE11 expression in primary human cancer with microsatellite instability. Oncogene (2004) 1.46
Concomitant MYC and microRNA cluster miR-17-92 (C13orf25) amplification in human mantle cell lymphoma. Leuk Lymphoma (2007) 1.46
Clinical genetic testing for familial melanoma in Italy: a cooperative study. J Am Acad Dermatol (2009) 1.45
Granulocyte colony-stimulating factor attenuates left ventricular remodelling after acute anterior STEMI: results of the single-blind, randomized, placebo-controlled multicentre STem cEll Mobilization in Acute Myocardial Infarction (STEM-AMI) Trial. Eur J Heart Fail (2010) 1.45
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer (2004) 1.42
ALK testing in lung adenocarcinoma: technical aspects to improve FISH evaluation in daily practice. J Thorac Oncol (2015) 1.42
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst (2010) 1.41
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
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat (2008) 1.34
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. Eur J Hum Genet (2004) 1.29
Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome. Blood (2010) 1.27
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
Familial breast cancer: characteristics and outcome of BRCA 1-2 positive and negative cases. BMC Cancer (2005) 1.20
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. Gynecol Oncol (2002) 1.19
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clin Cancer Res (2006) 1.18
Laparoscopic gastric banding prevents type 2 diabetes and arterial hypertension and induces their remission in morbid obesity: a 4-year case-controlled study. Diabetes Care (2005) 1.18
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev (2012) 1.17
Development of sarcomas in mice implanted with mesenchymal stem cells seeded onto bioscaffolds. Carcinogenesis (2008) 1.15
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2. Hum Mutat (2007) 1.14
Natural history and clinical impact of cryoglobulins in chronic hepatitis C: 10-year prospective study of 343 patients. Gastroenterology (2007) 1.14
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer. PLoS Biol (2011) 1.12
Renal failure and cirrhosis: a systematic review of mortality and prognosis. J Hepatol (2011) 1.11
Relationship between tumor and plasma levels of hTERT mRNA in patients with colorectal cancer: implications for monitoring of neoplastic disease. Clin Cancer Res (2008) 1.11
Cardiac events in 735 type 2 diabetic patients who underwent screening for unknown asymptomatic coronary heart disease: 5-year follow-up report from the Milan Study on Atherosclerosis and Diabetes (MiSAD). Diabetes Care (2002) 1.11
Long-term prognosis of diabetic patients with critical limb ischemia: a population-based cohort study. Diabetes Care (2009) 1.10
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics (2009) 1.08
Long-term outcome of patients with complete pathologic response after neoadjuvant chemoradiation for cT3 rectal cancer: implications for local excision surgical strategies. Ann Surg Oncol (2011) 1.08
A PALB2 germline mutation associated with hereditary breast cancer in Italy. Fam Cancer (2009) 1.07
Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients. Carcinogenesis (2010) 1.07
Noninvasive markers of esophageal varices: another round, not the last. Hepatology (2004) 1.07
Circulating leptin correlates with left ventricular mass in morbid (grade III) obesity before and after weight loss induced by bariatric surgery: a potential role for leptin in mediating human left ventricular hypertrophy. J Clin Endocrinol Metab (2005) 1.07
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. Dig Liver Dis (2013) 1.06
Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet (2004) 1.06
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol (2009) 1.05
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol (2005) 1.05
Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res (2003) 1.05
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomark (2006) 1.04
An advanced lithium-ion battery based on a graphene anode and a lithium iron phosphate cathode. Nano Lett (2014) 1.03
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers. Eur J Cancer (2005) 1.02
Integrated analysis of unclassified variants in mismatch repair genes. Genet Med (2011) 1.01
Non-functioning pituitary adenoma database: a useful resource to improve the clinical management of pituitary tumors. Eur J Endocrinol (2006) 1.01
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res (2014) 0.99
Female sexual dysfunction and diabetes: a systematic review and meta-analysis. J Sex Med (2013) 0.99
Quantitative evaluation of RASSF1A methylation in the non-lesional, regenerative and neoplastic liver. BMC Cancer (2006) 0.98
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat (2012) 0.98
Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet A (2003) 0.98
Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis. J Hepatol (2003) 0.97
Genetic heterogeneity in HER2 testing may influence therapy eligibility. Breast Cancer Res Treat (2011) 0.97
The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A (2013) 0.97
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. Eur J Hum Genet (2012) 0.96
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. Eur J Hum Genet (2006) 0.96
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. Am J Gastroenterol (2005) 0.95
Role of MUTYH in human cancer. Mutat Res (2013) 0.95
Correlation between cognitive impairment and prognostic parameters in patients with congestive heart failure. Arch Med Res (2007) 0.95