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AJOU Open Repository Journal Papers School of Medicine / Graduate School of Medicine

Medical Genetics245

Pub YearTitleAJOU Author(s)
2016Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.손영배
2018Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11박규정, 손영배, 이해상, 황진순
2019Synergistic Neuroprotective Effect of Schisandra chinensis and Ribes fasciculatum on Neuronal Cell Death and Scopolamine-Induced Cognitive Impairment in Rats김정현, 박은국, 정선용
2014TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.손영배, 임현이, 정선용, 한재호
2015Targeted inhibition of mitochondrial Hsp90 induces mitochondrial elongation in Hep3B hepatocellular carcinoma cells undergoing apoptosis by increasing the ROS level.정선용
2009The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy고정민
2010The 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.고정민
2014The effect of Lycii Radicis Cortex extract on bone formation in vitro and in vivo.김정현, 박은국, 정선용, 정윤석, 조두연
2018The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2020The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects손영배
2012The Genetic Variations of ESR1 Gene are Associated with Blood Pressure Traits in the Korean Women진현석
2022The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure손영배
2019The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system김세혁, 김장희, 노진, 노태훈, 이기범, 임현이, 정선용
2010The natural history and prognostic factors of Graves’ disease in Korean children and adolescents고정민
2014The PARK2 gene is involved in the maintenance of pancreatic β-cell functions related to insulin production and secretion.강엽, 정선용, 진현석
2013The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.손영배
2007The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome김현주
2022Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair손영배
2014TIMP-1 modulates chemotaxis of human neural stem cells through CD63 and integrin signalling.이명애, 정선용
2017Transcriptional profiling of human femoral mesenchymal stem cells in osteoporosis and its association with adipogenesis원예연, 정선용, 정윤석, 최용준
2011Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis윤수한, 정선용
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
2010Type 2 Diabetes Genetic Association Database manually curated for the study design and odds ratio.진현석
2023UBAP2 plays a role in bone homeostasis through the regulation of osteoblastogenesis and osteoclastogenesis김범택, 김정현, 박은국, 원예연, 정선용, 정윤석, 최용준
2022Updates on Paget’s Disease of Bone손영배, 정윤석, 최용준
2023Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene손영배, 이해상, 황진순
2015VE1 antibody is not highly specific for the BRAF V600E mutation in thyroid cytology categories with the exception of malignant cases.김대중, 김장희, 소의영, 신승수, 이기범, 이정훈, 임현이, 정선용, 정윤석, 한재호
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