Published in Int J Mol Med on October 01, 2003
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med (2007) 1.75
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med (2009) 1.38
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol (2010) 0.95
Toward an orofacial gene regulatory network. Dev Dyn (2015) 0.85
Identification of 15 loci influencing height in a Korean population. J Hum Genet (2009) 1.52
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. J Pediatr Gastroenterol Nutr (2010) 1.47
High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr (2011) 1.30
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
Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. Mol Genet Metab (2011) 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
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
Differential expression of the LOX family genes in human colorectal adenocarcinomas. Oncol Rep (2009) 0.98
MDC1 and RNF8 function in a pathway that directs BRCA1-dependent localization of PALB2 required for homologous recombination. J Cell Sci (2012) 0.97
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
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord (2012) 0.92
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. Hum Mutat (2007) 0.91
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci (2008) 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
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res (2005) 0.89
Short-term efficacy of monthly pamidronate infusion in patients with osteogenesis imperfecta. J Korean Med Sci (2007) 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
Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis. Cancer Genet Cytogenet (2010) 0.89
A case of campomelic dysplasia without sex reversal. J Korean Med Sci (2010) 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
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology (2012) 0.88
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism (2013) 0.87
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int (2011) 0.86
The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease. Pediatr Res (2007) 0.85
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy. Korean J Pediatr (2013) 0.85
Argininemia presenting with progressive spastic diplegia. Pediatr Neurol (2011) 0.85
KMD: Korean Mutation Database for genes related to diseases. Hum Mutat (2012) 0.85
Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab (2010) 0.85
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency. Int J Mol Med (2007) 0.85
Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro. Hum Mutat (2006) 0.84
Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. Int J Mol Med (2006) 0.84
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. Mol Genet Metab (2012) 0.84
Genetic variants in the HLA-G region are associated with Kawasaki disease. Hum Immunol (2008) 0.84
Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab (2008) 0.84
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. J Hum Genet (2005) 0.83
Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr (2012) 0.83
Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly. J Pediatr Gastroenterol Nutr (2015) 0.82
Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis. J Korean Med Sci (2008) 0.82
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations. J Hum Genet (2011) 0.82
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. Horm Res Paediatr (2015) 0.82
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Horm Res (2003) 0.82
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood (2009) 0.82
Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL. Mutat Res (2005) 0.81
Six cases of citrin deficiency in Korea. Int J Mol Med (2007) 0.81
Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis. J Korean Med Sci (2006) 0.81
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome. J Hum Genet (2013) 0.81
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. Korean J Pediatr (2012) 0.81
Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutations. Pediatr Neurol (2008) 0.81
Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster. Am J Med Genet A (2011) 0.81
Focal hand dystonia in a patient with PANK2 mutation. Mov Disord (2008) 0.80
Low prevalence of classical galactosemia in Korean population. J Hum Genet (2010) 0.80
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations. J Clin Neurol (2013) 0.80
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. Pediatr Int (2011) 0.80
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. Metab Brain Dis (2013) 0.79
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. Gene (2012) 0.79
Identification of the mechanism underlying a human chimera by SNP array analysis. Am J Med Genet A (2012) 0.79
The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clin Endocrinol (Oxf) (2009) 0.79
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency. J Hum Genet (2015) 0.79
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
Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea. Korean J Intern Med (2010) 0.79
X-linked recessive myotubular myopathy with MTM1 mutations. Korean J Pediatr (2013) 0.78
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients. Metab Brain Dis (2014) 0.78
A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth. Eur J Pediatr (2006) 0.78
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. Clin Endocrinol (Oxf) (2010) 0.78
Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency. Eur J Endocrinol (2013) 0.78
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia. Eur J Pediatr (2010) 0.78
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. Gene (2013) 0.77
The effects of a genetic counseling educational program on hereditary breast cancer for korean healthcare providers. J Breast Cancer (2013) 0.77
Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease. Proteomics (2011) 0.77
Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests. Pediatr Int (2007) 0.77
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. J Hum Genet (2009) 0.77
Implications of slow waves and shifting epileptiform discharges in Angelman syndrome. Brain Dev (2012) 0.77
The CCR5 (-2135C/T) polymorphism may be associated with the development of Kawasaki disease in Korean children. J Clin Immunol (2008) 0.77
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res (2005) 0.77
Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS). Clin Endocrinol (Oxf) (2009) 0.77
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate. Eur J Pediatr (2005) 0.76
Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism. Horm Res Paediatr (2015) 0.76
Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation. Mov Disord (2008) 0.76
Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease. Medicine (Baltimore) (2017) 0.75
Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease. Proteomics Clin Appl (2009) 0.75
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. Gut Liver (2012) 0.75