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

Medical Genetics242

Pub YearTitleAuthor(s)
2013NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.김영배, 손영배, 임현이, 정선용, 진현석, 한재호
2010Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension.진현석
2004Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.김현주
2010Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.고정민
2009Novel Therapies for Type 2 Diabetes Mellitus고정민
2013Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism.손영배, 이은소, 조재호, 황진순
2013Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease김현주, 정선용
2013Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.손영배
2021Osteoprotective effects of loganic acid on osteoblastic and osteoclastic cells and osteoporosis-induced mice김정현, 박은국, 이창근, 정선용
2013p21(WAF¹/C¹P¹) deficiency induces mitochondrial dysfunction in HCT116 colon cancer cells.정선용
2010Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.고정민, 배기수
2012Pathologic diagnosis of recurrent glioblastoma: morphologic, immunohistochemical, and molecular analysis of 20 paired cases김보영, 김세혁, 김영배, 김장희, 신승수, 이기범, 이현우, 정선용, 한재호
2015Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.손영배
2013Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).손영배
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2011Poncirin promotes osteoblast differentiation but inhibits adipocyte differentiation in mesenchymal stem cells.정선용, 정윤석
2004Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.김선용, 김현주, 방오영, 이필휴, 허균
2017Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings손영배, 이은소
2010Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.진현석
2012Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome손영배, 임신영
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