Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome
スポンサーリンク
概要
- 論文の詳細を見る
- 2013-09-01
著者
-
Choi Jin-ho
Department Of Computer Engineering Pusan University Of Foreign Studies
-
Lee Beom
Department Of Gastroenterology Korea University Guro Hospital
-
Kim Gu-hwan
Genome Research Center For Birth Defects And Genetic Diseases Asan Medical Center Children's Hospital University Of Ulsan College Of Medicine
-
Kim Joo
Genome Research Center For Birth Defects And Genetic Diseases Asan Medical Center Children's Hospital University Of Ulsan College Of Medicine
-
Yoo Han-wook
Department Of Pediatrics Asan Medical Center
-
LEE Joo
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
LEE Jin-Joo
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
OH Tae
Genomictree
-
CHOI Seung
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
KIM Jae-Min
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
CHOI In
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
KIM Yoo-Mi
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
-
CHOI Seung
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine
関連論文
- Mutation spectrum and polymorphisms in the human ATP7B gene and diverse phenotype of Korean patients with Wilson Disease
- Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector
- PE-384 Novel Replication-defective Coxsackievirus Vector Expressed Exogenous Genes without Cytotoxicity(Genetics/Genetically engineered models/Gene therapy-2 (M) PE64,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese
- PE-184 Changes of Plasma NT-proBNP Can Predict Echocardiographic Variables after Medical Treatment in Hypertrophic Cardiomyopathy with Normal Ejection Fraction(Cardiomyopathy, basic/clinical-4 (M) PE31,Poster Session (English),The 70th Anniversary Annual
- PE-430 Cytokines as Predictors of Clinical Outcomes In Patients with Fulminant Coxsackieviral Myocarditis(Myocarditis, basic/clinical-2 (M) PE72,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- PE-082 CABG versys PCI for Left Main Disease(Coronary revascularization, PCI-8 (IHD) PE14,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- FRS-025 Does Drug Eluting Stent Really Improved Clinical Outcomes of Percutaneous Coronary Intervention in Daily Practice?(New PCI-1 (IHD) FRS5,Featured Research Session,The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
- Degree of Left Ventricular Hypertrophy Determines Plasma NT pro-BNP Level in Hypertrophic Cardiomyopathy(Cardiomyopathy, Clinical 2 (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Lack of Additional Benefit of Intracoronary Transplantation of Autologous Peripheral Blood Stem Cell in Patients With Acute Myocardial Infarction
- OE-289 Virus Receptor Trap, Express Both CAR and DAF, Attenuates Inflammation and Mortality in Experimental Coxsackieviral Myocarditis(Myocarditis, basic/clinical-1 (M) OE49,Oral Presentation (English),The 70th Anniversary Annual Scientific Meeting of the
- Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria
- PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome
- Genotypes and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
- Three-Dimensional Quantitative Volumetry of Chronic Total Occlusion Plaque Using Coronary Multidetector Computed Tomography
- 野生型(AhR+/+)ならびにアリールハイドロカーボン受容体欠損(AhR-/-)マウス肝臓における2,3,7,8-Tetrachlorodibenzo-p-Dioxinによる遺伝子誘導プロファイル(毒性学)
- Predictive factors for organic central precocious puberty and utility of simplified gonadotropin-releasing hormone tests
- PSEUDOMELANOSIS ILEI ASSOCIATED WITH INGESTION OF CHARCOAL : CASE REPORT AND REVIEW OF LITERATURE
- Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis
- Enzyme replacement therapy for Fabry disease in Korea
- Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
- CMOS Time-to-Digital Converter without Delay Time
- Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations
- Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
- Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
- Low prevalence of classical galactosemia in Korean population
- Identification of 15 loci influencing height in a Korean population
- Metal Alloy Characteristics in Rapid Thermal Process System Using a Tungsten Halogen Lamp
- Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome