Published in J Korean Med Sci on October 01, 2006
Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. J Korean Med Sci (2007) 0.79
Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease. Clin Exp Reprod Med (2013) 0.75
Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn (2004) 2.37
Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod (1995) 1.52
Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod (2003) 1.46
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab (2003) 1.16
Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. Mol Hum Reprod (1996) 1.11
Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles. Forensic Sci Int (2003) 1.11
Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod (2000) 1.05
A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn (2001) 1.04
Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view. Hum Reprod Update (2002) 1.00
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin Perinatol (1999) 0.98
A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele. Eur J Hum Genet (2002) 0.95
A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI mis-genotyping in the vitamin D receptor gene. J Bone Miner Res (2003) 0.88
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. Am J Med Genet (2001) 0.82
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Reprod Biomed Online (2001) 0.80
Characterization of two types of endothelial progenitor cells and their different contributions to neovasculogenesis. Arterioscler Thromb Vasc Biol (2003) 4.35
Extracorporeal cardiopulmonary resuscitation in patients with inhospital cardiac arrest: A comparison with conventional cardiopulmonary resuscitation. Crit Care Med (2011) 2.77
Percutaneous coronary intervention for nonculprit vessels in cardiogenic shock complicating ST-segment elevation acute myocardial infarction. Crit Care Med (2014) 2.70
Six-month versus 12-month dual antiplatelet therapy after implantation of drug-eluting stents: the Efficacy of Xience/Promus Versus Cypher to Reduce Late Loss After Stenting (EXCELLENT) randomized, multicenter study. Circulation (2011) 2.40
Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn (2004) 2.37
Adverse pregnancy outcomes with assisted reproductive technology in non-obese women with polycystic ovary syndrome: a case-control study. Clin Exp Reprod Med (2011) 2.13
Engineered Saccharomyces cerevisiae capable of simultaneous cellobiose and xylose fermentation. Proc Natl Acad Sci U S A (2010) 2.04
Noninvasive diagnosis of ischemia-causing coronary stenosis using CT angiography: diagnostic value of transluminal attenuation gradient and fractional flow reserve computed from coronary CT angiography compared to invasively measured fractional flow reserve. JACC Cardiovasc Imaging (2012) 1.73
Interaction between Tie receptors modulates angiogenic activity of angiopoietin2 in endothelial progenitor cells. Cardiovasc Res (2006) 1.72
Mortality risk in symptomatic patients with nonobstructive coronary artery disease: a prospective 2-center study of 2,583 patients undergoing 64-detector row coronary computed tomographic angiography. J Am Coll Cardiol (2011) 1.56
Identification of 15 loci influencing height in a Korean population. J Hum Genet (2009) 1.52
Final kissing ballooning and long-term clinical outcomes in coronary bifurcation lesions treated with 1-stent technique: results from the COBIS registry. Heart (2011) 1.52
Clinical characteristics, ballooning pattern, and long-term prognosis of transient left ventricular ballooning syndrome. Heart Lung (2009) 1.52
Relationship of coronary artery plaque composition to coronary artery stenosis severity: results from the prospective multicenter ACCURACY trial. Atherosclerosis (2011) 1.51
Multivessel vs single-vessel revascularization in patients with non-ST-segment elevation acute coronary syndrome and multivessel disease in the drug-eluting stent era. Clin Cardiol (2011) 1.49
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. J Pediatr Gastroenterol Nutr (2010) 1.47
Transplantation of endothelial progenitor cells accelerates dermal wound healing with increased recruitment of monocytes/macrophages and neovascularization. Stem Cells (2005) 1.46
Oral misoprostol and uterine rupture in the first trimester of pregnancy: a case report. Reprod Toxicol (2005) 1.44
Comparison of coronary artery bypass grafting with drug-eluting stent implantation for the treatment of multivessel coronary artery disease. Ann Thorac Surg (2008) 1.44
Atomic structure, energetics, and dynamics of topological solitons in indium chains on Si(111) surfaces. Phys Rev Lett (2011) 1.42
Optimization of real time RT-PCR methods for the analysis of gene expression in mouse eggs and preimplantation embryos. Mol Reprod Dev (2005) 1.40
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr (2011) 1.30
Modified T-stenting with intentional protrusion of the side-branch stent within the main vessel stent to ensure ostial coverage and facilitate final kissing balloon: the T-stenting and small protrusion technique (TAP-stenting). Report of bench testing and first clinical Italian-Korean two-centre experience. Catheter Cardiovasc Interv (2007) 1.20
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr (2011) 1.17
Predictors and outcomes of side branch occlusion after main vessel stenting in coronary bifurcation lesions: results from the COBIS II Registry (COronary BIfurcation Stenting). J Am Coll Cardiol (2013) 1.16
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
Characterization of the system L amino acid transporter in T24 human bladder carcinoma cells. Biochim Biophys Acta (2002) 1.10
Can high serum anti-Müllerian hormone levels predict the phenotypes of polycystic ovary syndrome (PCOS) and metabolic disturbances in PCOS patients? Clin Exp Reprod Med (2013) 1.09
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes. J Clin Endocrinol Metab (2013) 1.09
Lung function, coronary artery calcification, and metabolic syndrome in 4905 Korean males. Respir Med (2010) 1.04
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab (2011) 1.02
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
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr (2014) 1.01
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr (2009) 1.00
Expression and purification of enzymatically active forms of the human lysyl oxidase-like protein 4. J Biol Chem (2003) 0.99
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution. Mol Genet Metab (2012) 0.99
Xylitol does not inhibit xylose fermentation by engineered Saccharomyces cerevisiae expressing xylA as severely as it inhibits xylose isomerase reaction in vitro. Appl Microbiol Biotechnol (2011) 0.98
Autophagy regulates embryonic survival during delayed implantation. Endocrinology (2011) 0.98
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
Identification of a novel human Rad51 variant that promotes DNA strand exchange. Nucleic Acids Res (2008) 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
Influence of motility on the outcome of in vitro fertilization/intracytoplasmic sperm injection with fresh vs. frozen testicular sperm from men with obstructive azoospermia. Fertil Steril (2003) 0.98
Transcriptional profiling with a pathway-oriented analysis identifies dysregulated molecular phenotypes in the endometrium of patients with polycystic ovary syndrome. J Clin Endocrinol Metab (2009) 0.97
Age specific serum anti-Müllerian hormone levels in 1,298 Korean women with regular menstruation. Clin Exp Reprod Med (2011) 0.96
A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements. Fertil Steril (2008) 0.96
Identification of a novel Na+-independent acidic amino acid transporter with structural similarity to the member of a heterodimeric amino acid transporter family associated with unknown heavy chains. J Biol Chem (2002) 0.96
Control of puberty: genetics, endocrinology, and environment. Curr Opin Endocrinol Diabetes Obes (2013) 0.95
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Hum Genet (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
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet (2008) 0.94
Development of SNP-based human identification system. Int J Legal Med (2010) 0.93
Establishment and characterization of mammalian cell lines stably expressing human L-type amino acid transporters. J Pharmacol Sci (2008) 0.93
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord (2012) 0.92
Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers. Am J Med Genet A (2010) 0.91
Sirolimus- versus paclitaxel-eluting stents for the treatment of coronary bifurcations results: from the COBIS (Coronary Bifurcation Stenting) Registry. J Am Coll Cardiol (2010) 0.91
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat (2007) 0.91
The butanol fraction of Eclipta prostrata (Linn) effectively reduces serum lipid levels and improves antioxidant activities in CD rats. Nutr Res (2008) 0.90
Serum anti-Müllerian hormone levels as a predictor of the ovarian response and IVF outcomes. Clin Exp Reprod Med (2011) 0.90
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci (2008) 0.90
A high loading dose of clopidogrel reduces myocardial infarct size in patients undergoing primary percutaneous coronary intervention: a magnetic resonance imaging study. Am Heart J (2012) 0.90
Effect of a standardized radiation dose reduction protocol on diagnostic accuracy of coronary computed tomographic angiography. Am J Cardiol (2010) 0.90
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. Eur J Endocrinol (2011) 0.89
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. Eur J Pediatr (2008) 0.89
Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents. Clin Biochem (2011) 0.89
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res (2005) 0.89
Percutaneous transseptal left atrial drainage for decompression of the left heart in an adult patient during percutaneous cardiopulmonary support. Korean Circ J (2011) 0.89
Preoperative anxiety and propofol requirement in conscious sedation for ovum retrieval. J Korean Med Sci (2003) 0.89
Short-term efficacy of monthly pamidronate infusion in patients with osteogenesis imperfecta. J Korean Med Sci (2007) 0.89
Effects of atorvastatin pretreatment on infarct size in patients with ST-segment elevation myocardial infarction undergoing primary percutaneous coronary intervention. Am Heart J (2011) 0.89
In vitro development and gene expression of frozen-thawed 8-cell stage mouse embryos following slow freezing or vitrification. Clin Exp Reprod Med (2011) 0.89
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet (2010) 0.89
Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet (2012) 0.88
Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes. Fertil Steril (2008) 0.88
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report. Clin Chim Acta (2005) 0.88
Two-year survival and neurological outcome of in-hospital cardiac arrest patients rescued by extracorporeal cardiopulmonary resuscitation. Int J Cardiol (2013) 0.88
A case of campomelic dysplasia without sex reversal. J Korean Med Sci (2010) 0.88
Comparison of transthoracic echocardiography with N-terminal pro-brain natriuretic Peptide as a tool for risk stratification of patients undergoing major noncardiac surgery. Korean Circ J (2011) 0.88
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology (2012) 0.88