Published in Muscle Nerve on September 01, 2007
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family. Diagn Pathol (2013) 0.94
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2. Neurogenetics (2012) 0.93
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci (2008) 0.85
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol (2016) 0.75
Correct use of repeated measures analysis of variance. Korean J Lab Med (2009) 2.45
Whole blood Epstein-Barr virus DNA load as a diagnostic and prognostic surrogate: extranodal natural killer/T-cell lymphoma. Leuk Lymphoma (2009) 1.83
Evaluation of Cobas TaqMan MTB PCR for detection of Mycobacterium tuberculosis. J Clin Microbiol (2010) 1.74
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
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
Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma. Cancer (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
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
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
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
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
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging (2012) 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
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
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
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
Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains. J Clin Microbiol (2014) 0.98
Acquired Gitelman syndrome in a patient with primary Sjögren syndrome. Am J Kidney Dis (2008) 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
Are there any ethnic differences in molecular predictors of erlotinib efficacy in advanced non-small cell lung cancer? Clin Cancer Res (2008) 0.97
A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. Am J Med Genet A (2011) 0.96
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
First case of Bartonella quintana endocarditis in Korea. J Korean Med Sci (2012) 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
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
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
High frequency of microsatellite instability in intestinal-type gastric cancer in Korean patients. Korean J Intern Med (2005) 0.90
Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea. J Korean Med Sci (2008) 0.89
Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene. Jpn J Ophthalmol (2013) 0.89
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Mol Vis (2011) 0.89
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population. J Hum Genet (2011) 0.88
Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Arch Neurol (2006) 0.88
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis. Korean J Lab Med (2011) 0.87
Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report. Korean J Lab Med (2011) 0.87
Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation. Ann Clin Lab Sci (2010) 0.87
Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2. J Hum Genet (2006) 0.87
A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness. Neuromuscul Disord (2004) 0.86
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature. Am J Med Genet A (2012) 0.86
The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging (2011) 0.86
Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. J Dermatol (2014) 0.86
GSTM1, GSTT1 and GSTP1 polymorphisms in the Korean population. J Korean Med Sci (2005) 0.86
Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome. J Hum Genet (2007) 0.86
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. Eur J Med Genet (2011) 0.85
Identification of a rare 3 bp BRAF gene deletion in a thyroid nodule by mutant enrichment with 3'-modified oligonucleotides polymerase chain reaction. Ann Lab Med (2012) 0.85
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. Mol Genet Metab (2007) 0.85
Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. J Korean Med Sci (2011) 0.85
Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome. J Clin Apher (2011) 0.84
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. Clin Chem Lab Med (2008) 0.84
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet (2011) 0.84
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome. Mol Vis (2013) 0.84
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency. Ann Clin Lab Sci (2012) 0.84
Increasing prevalence of imipenem-resistant Pseudomonas aeruginosa and molecular typing of metallo-beta-lactamase producers in a Korean hospital. Microb Drug Resist (2005) 0.84
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Neurobiol Aging (2013) 0.84
Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging (2012) 0.84
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. J Clin Neurol (2006) 0.84
UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriers. Cancer Sci (2008) 0.84
Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary. J Breast Cancer (2012) 0.84
Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis. Muscle Nerve (2009) 0.84
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. J Korean Med Sci (2006) 0.84
Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3. Ann Clin Lab Sci (2010) 0.83
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. Am J Med Genet A (2010) 0.83
Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. J Korean Med Sci (2011) 0.83
Sequential array comparative genomic hybridization analysis identifies copy number changes during blastic transformation of chronic myeloid leukemia. Leuk Res (2012) 0.83
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome. Korean J Pediatr (2013) 0.83
RET proto-oncogene mutations are restricted to codon 634 and 618 in Korean families with multiple endocrine neoplasia 2A. Thyroid (2004) 0.83
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. Ann Clin Lab Sci (2012) 0.83
Deep anterior lamellar keratoplasty in Korean patients with Avellino dystrophy. Cornea (2007) 0.83
A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome. Int J Hematol (2006) 0.83
HLA antigens and nontuberculous mycobacterial lung disease in Korean patients. Lung (2009) 0.83
Evaluation of the effects of VKORC1 polymorphisms and haplotypes, CYP2C9 genotypes, and clinical factors on warfarin response in Sudanese patients. Eur J Clin Pharmacol (2011) 0.83
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy. Korean J Lab Med (2010) 0.82
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. Ann Clin Lab Sci (2012) 0.82
Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family. Amyotroph Lateral Scler (2007) 0.82
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Neuromuscul Disord (2010) 0.82
Identification of ATM mutations in Korean siblings with ataxia-telangiectasia. Ann Lab Med (2013) 0.82
Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. Heart Vessels (2010) 0.82
MLL/SEPTIN6 chimeric transcript from inv ins(X;11)(q24;q23q13) in acute monocytic leukemia: report of a case and review of the literature. Genes Chromosomes Cancer (2003) 0.82
A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I. Ann Clin Lab Sci (2011) 0.82
Effects of 7 hemoglobin variants on the measurement of glycohemoglobin by 14 analytical methods. Clin Chem (2007) 0.82
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. J Korean Med Sci (2009) 0.82