Published in J Korean Med Sci on October 01, 2006
The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review. Case Rep Obstet Gynecol (2015) 0.78
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. Mol Genet Genomic Med (2015) 0.75
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet (1995) 1.17
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet (2000) 1.17
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet (2004) 1.07
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet (1998) 1.06
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet (1996) 1.03
A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab (2006) 0.90
Inferring pathway activity toward precise disease classification. PLoS Comput Biol (2008) 3.48
New anatomical insights on the course and branching patterns of the facial artery: clinical implications of injectable treatments to the nasolabial fold and nasojugal groove. Plast Reconstr Surg (2014) 2.61
Correct use of repeated measures analysis of variance. Korean J Lab Med (2009) 2.45
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
Clinical Implications of the Extension of Platysmal Fibers on the Middle and Lower Face. Plast Reconstr Surg (2016) 1.94
Whole blood Epstein-Barr virus DNA load as a diagnostic and prognostic surrogate: extranodal natural killer/T-cell lymphoma. Leuk Lymphoma (2009) 1.83
Sasangin diagnosis questionnaire: test of reliability. J Altern Complement Med (2007) 1.78
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
Clinical outcome of gastric cancer patients with bone marrow metastases. Oncology (2008) 1.52
The apolipoprotein E epsilon4 haplotype is an important predictor for recurrence in ischemic cerebrovascular disease. J Neurol Sci (2003) 1.49
The risorius muscle: anatomic considerations with reference to botulinum neurotoxin injection for masseteric hypertrophy. Dermatol Surg (2014) 1.43
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
The anatomical origin and course of the angular artery regarding its clinical implications. Dermatol Surg (2014) 1.41
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
Reliability of two different presurgical preparation methods for implant dentistry based on panoramic radiography and cone-beam computed tomography in cadavers. J Periodontal Implant Sci (2012) 1.36
Diversity of ampicillin resistance genes and antimicrobial susceptibility patterns in Haemophilus influenzae strains isolated in Korea. Antimicrob Agents Chemother (2006) 1.31
Microanatomy of the incisive canal using three-dimensional reconstruction of microCT images: an ex vivo study. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2009) 1.28
Monoamine transporter gene polymorphisms and antidepressant response in koreans with late-life depression. JAMA (2006) 1.25
Location of the mandibular canal and the topography of its neurovascular structures. J Craniofac Surg (2009) 1.23
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
Interactions between Shh, Sostdc1 and Wnt signaling and a new feedback loop for spatial patterning of the teeth. Development (2011) 1.21
Relationships among serum leptin, leptin receptor gene polymorphisms, and breast cancer in Korea. Cancer Lett (2005) 1.21
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci (2005) 1.21
Branching patterns and intraosseous course of the mental nerve. J Oral Maxillofac Surg (2007) 1.18
Safety and feasibility of countering neurological impairment by intravenous administration of autologous cord blood in cerebral palsy. J Transl Med (2012) 1.16
Molecular interactions between Tbx3 and Bmp4 and a model for dorsoventral positioning of mammary gland development. Proc Natl Acad Sci U S A (2006) 1.16
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
Expression of Livin, an antiapoptotic protein, is an independent favorable prognostic factor in childhood acute lymphoblastic leukemia. Blood (2006) 1.10
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
Effect of probiotic mix (Bifidobacterium bifidum, Bifidobacterium lactis, Lactobacillus acidophilus) in the primary prevention of eczema: a double-blind, randomized, placebo-controlled trial. Pediatr Allergy Immunol (2009) 1.09
Sex determination using nonmetric characteristics of the mandible in Koreans. J Forensic Sci (2006) 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
Prospective randomized controlled trial (phase III) to comparing laparoscopic distal gastrectomy with open distal gastrectomy for gastric adenocarcinoma (KLASS 01). J Korean Surg Soc (2013) 1.08
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
Branching patterns of the infraorbital nerve and topography within the infraorbital space. J Craniofac Surg (2006) 1.08
Dynamic changes in DNA methylation and hydroxymethylation when hES cells undergo differentiation toward a neuronal lineage. Hum Mol Genet (2013) 1.08
Hepatocyte transplantation for glycogen storage disease type Ib. Cell Transplant (2007) 1.07
Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging (2012) 1.07
UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Haematologica (2009) 1.07
The validity of the ISAAC written questionnaire and the ISAAC video questionnaire (AVQ 3.0) for predicting asthma associated with bronchial hyperreactivity in a group of 13-14 year old Korean schoolchildren. J Korean Med Sci (2003) 1.07
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
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
Characterization of Staphylococcus aureus nasal carriage from children attending an outpatient clinic in Seoul, Korea. Microb Drug Resist (2008) 1.05
Apical anatomy in mesial and mesiobuccal roots of permanent first molars. J Endod (2005) 1.04
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
Overexpression of Apollon, an antiapoptotic protein, is associated with poor prognosis in childhood de novo acute myeloid leukemia. Clin Cancer Res (2007) 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
Effects of yoga exercise on serum adiponectin and metabolic syndrome factors in obese postmenopausal women. Menopause (2012) 1.02
Surface anatomy of the lip elevator muscles for the treatment of gummy smile using botulinum toxin. Angle Orthod (2009) 1.02
The burden and characteristics of tuberculosis/human immunodeficiency virus (TB/HIV) in South Korea: a study from a population database and a survey. BMC Infect Dis (2010) 1.01
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
Sihler staining study of anastomosis between the facial and trigeminal nerves in the ocular area and its clinical implications. Muscle Nerve (2013) 1.00
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Blood Res (2013) 0.99
Distribution of nontuberculous mycobacteria by multigene sequence-based typing and clinical significance of isolated strains. J Clin Microbiol (2014) 0.98
Adverse prognostic impact of abnormal lesions detected by genome-wide single nucleotide polymorphism array-based karyotyping analysis in acute myeloid leukemia with normal karyotype. J Clin Oncol (2011) 0.98
Molecular genetics of Mycobacterium tuberculosis resistant to aminoglycosides and cyclic peptide capreomycin antibiotics in Korea. World J Microbiol Biotechnol (2013) 0.98
Anesthetic management of the emergency laparotomy for a patient with multiple sclerosis -A case report-. Korean J Anesthesiol (2010) 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
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
Dibromido(dimethyl sulfoxide-kappaO)(1,10-phenanthroline-kappa(2)N,N')copper(II). Acta Crystallogr C (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
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. Hum Genet (2011) 0.96
UDP-Glucuronosyltransferase 1A1 gene polymorphisms and total bilirubin levels in an ethnically diverse cohort of women. Drug Metab Dispos (2007) 0.96