Published in Am J Med Genet A on December 07, 2011
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. J Hum Genet (2015) 1.05
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet (2015) 1.00
Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012. Mol Syndromol (2012) 0.90
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea. J Korean Med Sci (2015) 0.83
Clinical Characteristics of Marfan Syndrome in Korea. Korean Circ J (2016) 0.79
Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review. BMC Musculoskelet Disord (2016) 0.75
Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations. J Korean Med Sci (2015) 0.75
Extracorporeal cardiopulmonary resuscitation in patients with inhospital cardiac arrest: A comparison with conventional cardiopulmonary resuscitation. Crit Care Med (2011) 2.77
Correct use of repeated measures analysis of variance. Korean J Lab Med (2009) 2.45
Prevalence of aortic intimal defect in surgically treated acute type A intramural hematoma. Ann Thorac Surg (2008) 2.19
Long-term and sustained COMP-Ang1 induces long-lasting vascular enlargement and enhanced blood flow. Circ Res (2005) 2.14
Midterm change of descending aortic false lumen after repair of acute type I dissection. Ann Thorac Surg (2009) 1.83
Whole blood Epstein-Barr virus DNA load as a diagnostic and prognostic surrogate: extranodal natural killer/T-cell lymphoma. Leuk Lymphoma (2009) 1.83
Decreased number and impaired angiogenic function of endothelial progenitor cells in patients with chronic renal failure. Arterioscler Thromb Vasc Biol (2004) 1.78
Evaluation of Cobas TaqMan MTB PCR for detection of Mycobacterium tuberculosis. J Clin Microbiol (2010) 1.74
Interaction between Tie receptors modulates angiogenic activity of angiopoietin2 in endothelial progenitor cells. Cardiovasc Res (2006) 1.72
Intermittent antibiotic therapy for nodular bronchiectatic Mycobacterium avium complex lung disease. Am J Respir Crit Care Med (2015) 1.68
Impact of MET amplification on gastric cancer: possible roles as a novel prognostic marker and a potential therapeutic target. Oncol Rep (2011) 1.66
Novel interleukin 1beta polymorphism increased the risk of gastric cancer in a Korean population. J Gastroenterol (2004) 1.65
Positive correlation between the dysregulation of transforming growth factor-β1 and aneurysmal pathological changes in patients with Marfan syndrome. Circ J (2012) 1.52
Analysis of expert consultation referrals to the Korean Society of Anesthesiologists (KSA): a comparison of procedural sedation and general anesthesia. J Anesth (2012) 1.51
Tricuspid reoperation after left-sided rheumatic valve operations. Ann Thorac Surg (2013) 1.49
Ethanol embolization of arteriovenous malformations: interim results. Radiology (2005) 1.47
Transplantation of endothelial progenitor cells accelerates dermal wound healing with increased recruitment of monocytes/macrophages and neovascularization. Stem Cells (2005) 1.46
Hemodynamic patterns for symptomatic presentations of severe aortic stenosis. JACC Cardiovasc Imaging (2013) 1.46
Early growth response factor-1 is associated with intraluminal thrombus formation in human abdominal aortic aneurysm. J Am Coll Cardiol (2009) 1.44
Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma. Cancer (2007) 1.42
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
The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea. J Hum Genet (2013) 1.42
A novel exon 3 mutation (P66S) in the SOD1 gene in familial ALS. Can J Neurol Sci (2012) 1.40
Rapid detection and identification of 12 respiratory viruses using a dual priming oligonucleotide system-based multiplex PCR assay. J Virol Methods (2008) 1.37
Natural history of spontaneous isolated superior mesenteric artery dissection derived from follow-up after conservative treatment. J Vasc Surg (2011) 1.36
Partially unroofed coronary sinus: MDCT and MRI findings. AJR Am J Roentgenol (2010) 1.34
Diversity of ampicillin resistance genes and antimicrobial susceptibility patterns in Haemophilus influenzae strains isolated in Korea. Antimicrob Agents Chemother (2006) 1.31
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
Relationships among serum leptin, leptin receptor gene polymorphisms, and breast cancer in Korea. Cancer Lett (2005) 1.21
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
An evaluation of perioperative pregabalin for prevention and attenuation of postoperative shoulder pain after laparoscopic cholecystectomy. Anesth Analg (2009) 1.12
Mutant enrichment with 3'-modified oligonucleotides a practical PCR method for detecting trace mutant DNAs. J Mol Diagn (2011) 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
Subintimal angioplasty in the treatment of chronic lower limb ischemia. Korean J Radiol (2006) 1.12
Comparison of the Xpert MTB/RIF and Cobas TaqMan MTB assays for detection of Mycobacterium tuberculosis in respiratory specimens. J Clin Microbiol (2013) 1.11
Human cord blood-derived endothelial progenitor cells and their conditioned media exhibit therapeutic equivalence for diabetic wound healing. Cell Transplant (2010) 1.09
Multidetector CT and MR imaging of cardiac tumors. Korean J Radiol (2009) 1.09
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging (2012) 1.07
Multiple developmental defects derived from impaired recruitment of ASC-2 to nuclear receptors in mice: implication for posterior lenticonus with cataract. Mol Cell Biol (2002) 1.07
Epidemiologic picture of Kawasaki disease in Korea, 2000-2002. Pediatr Int (2005) 1.07
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. J Hum Genet (2005) 1.06
Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis (Edinb) (2007) 1.05
Klebsiella pneumoniae co-producing NDM-5 and OXA-181 carbapenemases, South Korea. Emerg Infect Dis (2015) 1.05
Evaluation of the GenBank, EzTaxon, and BIBI services for molecular identification of clinical blood culture isolates that were unidentifiable or misidentified by conventional methods. J Clin Microbiol (2012) 1.03
NRAMP1 gene polymorphism and susceptibility to nontuberculous mycobacterial lung diseases. Chest (2005) 1.03
Identification of clinical mold isolates by sequence analysis of the internal transcribed spacer region, ribosomal large-subunit D1/D2, and β-tubulin. Ann Lab Med (2012) 1.03
Evaluation of PCR-based screening for vancomycin-resistant enterococci compared with a chromogenic agar-based culture method. J Med Microbiol (2011) 1.03
C-reactive protein impairs angiogenic functions and decreases the secretion of arteriogenic chemo-cytokines in human endothelial progenitor cells. Biochem Biophys Res Commun (2004) 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
Surgical bypass vs endovascular treatment for patients with supra-aortic arterial occlusive disease due to Takayasu arteritis. J Vasc Surg (2011) 1.01
Enhancement of receptor-operated cation current and TRPC6 expression in arterial smooth muscle cells of deoxycorticosterone acetate-salt hypertensive rats. J Hypertens (2007) 1.01
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
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci (2010) 1.00
Clinical characteristics, and laboratory and echocardiographic findings in takotsubo cardiomyopathy presenting as cardiogenic shock. J Crit Care (2010) 0.99
Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains. J Clin Microbiol (2014) 0.98
A novel ex vivo angiogenesis assay based on electroporation-mediated delivery of naked plasmid DNA to skeletal muscle. Mol Ther (2004) 0.98
Routine screening for abdominal aortic aneurysm during clinical transthoracic echocardiography in a Korean population. Echocardiography (2010) 0.98
Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene. J Korean Med Sci (2006) 0.97
Acquired Gitelman syndrome in a patient with primary Sjögren syndrome. Am J Kidney Dis (2008) 0.97
Are there any ethnic differences in molecular predictors of erlotinib efficacy in advanced non-small cell lung cancer? Clin Cancer Res (2008) 0.97
Cardiovascular manifestations of Takayasu arteritis and their relationship to the disease activity: analysis of 204 Korean patients at a single center. Int J Cardiol (2011) 0.97
Outcomes of pregnancy in women with congenital heart disease: a single center experience in Korea. J Korean Med Sci (2008) 0.96
Comparison of refractive changes after deep anterior lamellar keratoplasty and penetrating keratoplasty for keratoconus. Jpn J Ophthalmol (2011) 0.96
Comparative measurement of aortic root by transthoracic echocardiography in normal Korean population based on two different guidelines. Cardiovasc Ultrasound (2013) 0.95
Diagnostic predictor of difficult laryngoscopy: the hyomental distance ratio. Anesth Analg (2009) 0.95
Feasibility of single-beat full-volume capture real-time three-dimensional echocardiography and auto-contouring algorithm for quantification of left ventricular volume: validation with cardiac magnetic resonance imaging. J Am Soc Echocardiogr (2011) 0.93
Complete sequencing of a genetic polymorphism in NAT2 in the Korean population. Clin Chem (2002) 0.93
Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations. J Neurol Sci (2007) 0.93
Plasma transforming growth factor beta1 as a biochemical marker to predict the persistence of atrial fibrillation after the surgical maze procedure. J Thorac Cardiovasc Surg (2009) 0.93
First case of Bartonella quintana endocarditis in Korea. J Korean Med Sci (2012) 0.93
Chronic kidney disease and metabolic syndrome in a general Korean population: the Third Korea National Health and Nutrition Examination Survey (KNHANES III) Study. J Public Health (Oxf) (2010) 0.93
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One (2013) 0.92
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. Clin Endocrinol (Oxf) (2011) 0.92
Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report. J Korean Med Sci (2009) 0.92
A retrospective contralateral study comparing deep anterior lamellar keratoplasty with penetrating keratoplasty. Cornea (2013) 0.92
Long-term efficacy and rotational stability of AcrySof toric intraocular lens implantation in cataract surgery. Korean J Ophthalmol (2010) 0.92
Angiopoietin-1 prevents hypertension and target organ damage through its interaction with endothelial Tie2 receptor. Cardiovasc Res (2008) 0.91
Clinical evaluation of micro-scale chip-based PCR system for rapid detection of hepatitis B virus. Biosens Bioelectron (2005) 0.91
Streptococcus suis meningitis with bilateral sensorineural hearing loss. Korean J Lab Med (2011) 0.91
Immunoglobulin G4-related periaortitis mimicking an intramural hematoma. Ann Thorac Surg (2011) 0.91
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. J Hum Genet (2011) 0.90
Ischemia-modified albumin is a highly sensitive serum marker of transient myocardial ischemia induced by coronary vasospasm. Coron Artery Dis (2007) 0.90
Standardization of terminology in laboratory medicine II. J Korean Med Sci (2008) 0.90
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. J Korean Med Sci (2008) 0.90