Published in Mol Genet Metab on June 26, 2012
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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. BMC Endocr Disord (2014) 0.75
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CARMELA: assessment of cardiovascular risk in seven Latin American cities. Am J Med (2008) 2.40
Relationship between steatosis, inflammation, and fibrosis in chronic hepatitis C: a meta-analysis of individual patient data. Gastroenterology (2006) 2.26
Metformin therapy and risk of cancer in patients with type 2 diabetes: systematic review. PLoS One (2013) 2.10
Treatment optimization and prediction of HCV clearance in patients with acute HCV infection. J Hepatol (2013) 2.04
Cortisol secretion in patients with type 2 diabetes: relationship with chronic complications. Diabetes Care (2007) 1.97
Short and long-term variations in serum calciotropic hormones after a single very large dose of ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3) in the elderly. J Clin Endocrinol Metab (2008) 1.97
Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83
Prevalence and correlates of self-reported sexual dysfunction in CKD: a meta-analysis of observational studies. Am J Kidney Dis (2010) 1.81
GOAL: automated Gene Ontology analysis of expression profiles. Nucleic Acids Res (2004) 1.79
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. J Clin Endocrinol Metab (2006) 1.79
Management of bleeding in acquired hemophilia A: results from the European Acquired Haemophilia (EACH2) Registry. Blood (2012) 1.74
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol (2002) 1.73
Resting state fMRI in Alzheimer's disease: beyond the default mode network. Neurobiol Aging (2011) 1.70
Beneficial metabolic effects of prompt surgical treatment in patients with an adrenal incidentaloma causing biochemical hypercortisolism. J Clin Endocrinol Metab (2010) 1.69
Erectile dysfunction and quality of life in type 2 diabetic patients: a serious problem too often overlooked. Diabetes Care (2002) 1.68
Recombinant activated factor VII for refractory bleeding after acute aortic dissection surgery: a propensity score analysis. Crit Care Med (2007) 1.68
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet (2004) 1.67
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Invest Ophthalmol Vis Sci (2005) 1.65
Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). Blood (2012) 1.65
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol (2005) 1.63
Subclinical hypercortisolism among outpatients referred for osteoporosis. Ann Intern Med (2007) 1.63
Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure. Genome Res (2010) 1.62
Omega-3 fatty acid supplementation reduces one-year risk of atrial fibrillation in patients hospitalized with myocardial infarction. Eur J Clin Pharmacol (2008) 1.61
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet (2008) 1.59
Sexual dysfunction in women with ESRD requiring hemodialysis. Clin J Am Soc Nephrol (2012) 1.56
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53
Prevalence of depression in chronic kidney disease: systematic review and meta-analysis of observational studies. Kidney Int (2013) 1.52
HMG CoA reductase inhibitors (statins) for people with chronic kidney disease not requiring dialysis. Cochrane Database Syst Rev (2009) 1.52
Addition of the multidimensional prognostic index to the estimated glomerular filtration rate improves prediction of long-term all-cause mortality in older patients with chronic kidney disease. Rejuvenation Res (2012) 1.51
The EphA2 receptor drives self-renewal and tumorigenicity in stem-like tumor-propagating cells from human glioblastomas. Cancer Cell (2012) 1.50
Cetuximab plus FOLFOX-4 in untreated patients with advanced colorectal cancer: a Gruppo Oncologico dell'Italia Meridionale Multicenter phase II study. Oncology (2011) 1.48
Mirna expression profiles identify drivers in colorectal and pancreatic cancers. PLoS One (2012) 1.47
An in vitro model of hepatitis C virus genotype 3a-associated triglycerides accumulation. J Hepatol (2005) 1.46
Botulinum toxin type B for sialorrhoea in children with cerebral palsy: a randomized trial comparing three doses. Dev Med Child Neurol (2011) 1.44
Accuracy of several parameters of hypothalamic-pituitary-adrenal axis activity in predicting before surgery the metabolic effects of the removal of an adrenal incidentaloma. Eur J Endocrinol (2010) 1.44
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet (2003) 1.43
Twelve-year mortality results of a randomized trial of 2 versus 5 years of adjuvant tamoxifen for postmenopausal early-stage breast carcinoma patients (SITAM 01). Cancer (2005) 1.43
Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression. Cancer Epidemiol Biomarkers Prev (2009) 1.43
Heterogeneous effect of peroxisome proliferator-activated receptor gamma2 Ala12 variant on type 2 diabetes risk. Obesity (Silver Spring) (2007) 1.42
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41
Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science (2012) 1.41
Use of the diabetes risk score for opportunistic screening of undiagnosed diabetes and impaired glucose tolerance: the IGLOO (Impaired Glucose Tolerance and Long-Term Outcomes Observational) study. Diabetes Care (2005) 1.36
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
Baseline quality-of-care data from a quality-improvement program implemented by a network of diabetes outpatient clinics. Diabetes Care (2008) 1.36
Activation of APE1/Ref-1 is dependent on reactive oxygen species generated after purinergic receptor stimulation by ATP. Nucleic Acids Res (2005) 1.33
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 1.32
Residual pituitary function after brain injury-induced hypopituitarism: a prospective 12-month study. J Clin Endocrinol Metab (2005) 1.32
Diabetes Interactive Diary: a new telemedicine system enabling flexible diet and insulin therapy while improving quality of life: an open-label, international, multicenter, randomized study. Diabetes Care (2009) 1.31
Quality of care and outcomes in type 2 diabetic patients: a comparison between general practice and diabetes clinics. Diabetes Care (2004) 1.31
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol (2012) 1.29
The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction. Diabetes (2005) 1.29
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet (2005) 1.27
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Hum Mol Genet (2013) 1.26
Genome-wide analysis and proteomic studies reveal APE1/Ref-1 multifunctional role in mammalian cells. Proteomics (2009) 1.23
Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci (2008) 1.23
Quality of diabetes care predicts the development of cardiovascular events: results of the QuED study. Nutr Metab Cardiovasc Dis (2006) 1.21
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis (2009) 1.20
Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome. Epigenetics (2011) 1.20
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet (2011) 1.17
Mitochondrial dysregulation and oxidative stress in patients with chronic kidney disease. BMC Genomics (2009) 1.16
Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. J Clin Endocrinol Metab (2004) 1.15
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet (2001) 1.15
Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum Mol Genet (2006) 1.14
Serum resistin, cardiovascular disease and all-cause mortality in patients with type 2 diabetes. PLoS One (2013) 1.13
APE1/Ref-1 regulates PTEN expression mediated by Egr-1. Free Radic Res (2008) 1.13
Monocyte chemoattractant protein-1 secreted by adipose tissue induces direct lipid accumulation in hepatocytes. Hepatology (2008) 1.13
Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer. Epigenetics (2011) 1.12