Published in Hum Mutat on April 01, 2012
Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable Rare Dis Res (2012) 2.42
Inferring pathway activity toward precise disease classification. PLoS Comput Biol (2008) 3.48
Waist circumference and waist-to-height ratio as predictors of cardiovascular disease risk in Korean adults. Circ J (2009) 2.12
Stage migration effect on survival in gastric cancer surgery with extended lymphadenectomy: the reappraisal of positive lymph node ratio as a proper N-staging. Ann Surg (2012) 1.96
Sasangin diagnosis questionnaire: test of reliability. J Altern Complement Med (2007) 1.78
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Novel interleukin 1beta polymorphism increased the risk of gastric cancer in a Korean population. J Gastroenterol (2004) 1.65
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease. Hum Mutat (2012) 1.65
Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. J Am Soc Nephrol (2010) 1.53
Identification of 15 loci influencing height in a Korean population. J Hum Genet (2009) 1.52
A nationwide study of mass urine screening tests on Korean school children and implications for chronic kidney disease management. Clin Exp Nephrol (2012) 1.50
The apolipoprotein E epsilon4 haplotype is an important predictor for recurrence in ischemic cerebrovascular disease. J Neurol Sci (2003) 1.49
Interaction between -786TC polymorphism in the endothelial nitric oxide synthase gene and smoking for myocardial infarction in Korean population. Clin Chim Acta (2005) 1.49
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. J Pediatr Gastroenterol Nutr (2010) 1.47
A genome-wide association study of a coronary artery disease risk variant. J Hum Genet (2013) 1.46
Small-diameter blood vessels engineered with bone marrow-derived cells. Ann Surg (2005) 1.43
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet (2007) 1.42
Endothelial nitric oxide synthase gene is associated with vessel stenosis in Korean population. Clin Chim Acta (2005) 1.39
Dietary carbohydrate intake is associated with cardiovascular disease risk in Korean: analysis of the third Korea National Health and Nutrition Examination Survey (KNHANES III). Int J Cardiol (2008) 1.34
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr (2011) 1.30
CD137 (4-1BB) deficiency reduces atherosclerosis in hyperlipidemic mice. Circulation (2010) 1.26
Monoamine transporter gene polymorphisms and antidepressant response in koreans with late-life depression. JAMA (2006) 1.25
A Glu487Lys polymorphism in the gene for mitochondrial aldehyde dehydrogenase 2 is associated with myocardial infarction in elderly Korean men. Clin Chim Acta (2007) 1.24
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. PLoS One (2013) 1.23
Distributions of ACE and APOE polymorphisms and their relations with dementia status in Korean centenarians. J Gerontol A Biol Sci Med Sci (2003) 1.21
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr (2011) 1.17
Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol (2006) 1.16
Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Horm Res Paediatr (2010) 1.13
A multicentre cohort study of acute heart failure syndromes in Korea: rationale, design, and interim observations of the Korean Acute Heart Failure (KorAHF) registry. Eur J Heart Fail (2014) 1.13
BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population. J Clin Endocrinol Metab (2010) 1.13
Mutant enrichment with 3'-modified oligonucleotides a practical PCR method for detecting trace mutant DNAs. J Mol Diagn (2011) 1.12
PADB: published association database. BMC Bioinformatics (2007) 1.12
Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area. J Clin Endocrinol Metab (2012) 1.12
Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum Mol Genet (2003) 1.11
Genome-wide association of serum bilirubin levels in Korean population. Hum Mol Genet (2010) 1.10
Predicting national suicide numbers with social media data. PLoS One (2013) 1.10
Factors affecting the interindividual variability of warfarin dose requirement in adult Korean patients. Pharmacogenomics (2007) 1.09
Primary focal segmental glomerular sclerosis in children: clinical course and prognosis. Pediatr Nephrol (2006) 1.09
Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol (2007) 1.09
Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr (2009) 1.09
A genome-wide scan for the Sasang constitution in a Korean family suggests significant linkage at chromosomes 8q11.22-23 and 11q22.1-3. J Altern Complement Med (2009) 1.08
Identification and validation of SAA as a potential lung cancer biomarker and its involvement in metastatic pathogenesis of lung cancer. J Proteome Res (2011) 1.08
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging (2012) 1.07
Hepatocyte transplantation for glycogen storage disease type Ib. Cell Transplant (2007) 1.07
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet (2013) 1.07
Unilateral renal angiodysplasia in a girl with hypertension. Pediatr Nephrol (2005) 1.06
Sequence-based CYP2D6 genotyping in the Korean population. Ther Drug Monit (2006) 1.06
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet (2005) 1.06
Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol (2007) 1.05
Idiopathic membranous nephropathy in children. Pediatr Nephrol (2006) 1.05
Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis (Edinb) (2007) 1.05
Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. J Med Genet (2010) 1.05
In vitro differentiation of mouse embryonic stem cells: enrichment of endodermal cells in the embryoid body. Stem Cells (2005) 1.05
Atypical presentation of distal renal tubular acidosis in two siblings. Pediatr Nephrol (2008) 1.04
Variable phenotype of Pierson syndrome. Pediatr Nephrol (2008) 1.04
PPAR delta agonist L-165041 inhibits rat vascular smooth muscle cell proliferation and migration via inhibition of cell cycle. Atherosclerosis (2008) 1.03
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab (2011) 1.02
Common CYP7A1 promoter polymorphism associated with risk of neuromyelitis optica. Neurobiol Dis (2009) 1.02
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Hum Mutat (2006) 1.02
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. Haematologica (2013) 1.02
Effects of yoga exercise on serum adiponectin and metabolic syndrome factors in obese postmenopausal women. Menopause (2012) 1.02
Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. Pediatr Res (2009) 1.02
Trichostatin A exacerbates atherosclerosis in low density lipoprotein receptor-deficient mice. Arterioscler Thromb Vasc Biol (2005) 1.01
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr (2014) 1.01
PDE4 inhibitor, roflumilast protects cardiomyocytes against NO-induced apoptosis via activation of PKA and Epac dual pathways. Cell Signal (2007) 1.01
The molecular basis of phenylketonuria in Koreans. J Hum Genet (2004) 1.01
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. Am J Kidney Dis (2008) 1.00
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Arch Neurol (2005) 1.00
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr (2009) 1.00
In vivo differentiation of mouse embryonic stem cells into hepatocytes. Cell Transplant (2002) 1.00
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mol Genet Metab (2012) 0.99
Expression and purification of enzymatically active forms of the human lysyl oxidase-like protein 4. J Biol Chem (2003) 0.99
Public attitudes toward cancer and cancer patients: a national survey in Korea. Psychooncology (2012) 0.99
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet (2010) 0.98
Genetic basis of Bartter syndrome in Korea. Nephrol Dial Transplant (2011) 0.98
Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res (2008) 0.98
Decreased renal uptake of (99m)Tc-DMSA in patients with tubular proteinuria. Pediatr Nephrol (2009) 0.98
Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability. Oncogene (2002) 0.98
Clinical outcomes of childhood lupus nephritis: a single center's experience. Pediatr Nephrol (2006) 0.98
PPARgamma activation induces CD36 expression and stimulates foam cell like changes in rVSMCs. Prostaglandins Other Lipid Mediat (2006) 0.97
Clinical features of A3243G mitochondrial tRNA mutation. Brain Dev (2004) 0.97
Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene. J Korean Med Sci (2006) 0.97
Comparative analysis of sequences expressed during the liquid-cultured mycelia and fruit body stages of Pleurotus ostreatus. Fungal Genet Biol (2002) 0.97
Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population. Clin Chem (2003) 0.97
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. Hum Genet (2011) 0.96
The first case of familial Mediterranean fever associated with renal amyloidosis in Korea. Yonsei Med J (2012) 0.96
Transient retinoic acid signaling confers anterior-posterior polarity to the inner ear. Proc Natl Acad Sci U S A (2010) 0.96
Nutcracker syndrome in children with gross haematuria: Doppler sonographic evaluation of the left renal vein. Pediatr Radiol (2006) 0.96
Familial renal glucosuria: a clinicogenetic study of 23 additional cases. Pediatr Nephrol (2012) 0.95
Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients. Cancer (2011) 0.95
Identification of the dITP- and XTP-hydrolyzing protein from Escherichia coli. J Biochem Mol Biol (2002) 0.95
The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina. Yonsei Med J (2002) 0.95
Control of puberty: genetics, endocrinology, and environment. Curr Opin Endocrinol Diabetes Obes (2013) 0.95
15d-PGJ2 stimulates HO-1 expression through p38 MAP kinase and Nrf-2 pathway in rat vascular smooth muscle cells. Toxicol Appl Pharmacol (2007) 0.95
Comparison of HPV genotyping assays and Hybrid Capture 2 for detection of high-risk HPV in cervical specimens. Ann Clin Lab Sci (2011) 0.94
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. Clin Endocrinol (Oxf) (2011) 0.94
Genetic association study of individual symptoms in depression. Psychiatry Res (2012) 0.94
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Hum Genet (2011) 0.94