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소속

  • 소아과학교실

보직

  • 과장(科長)

직위

  • 교수

연구실 위치

  • 의과대학 437호

전화/팩스

  • 02-2228-2540 /

학력사항

  • 연세대학교 의학과 학사(1980)
    연세대학교 대학원 의학석사(1985)
    Karolinska Institute, Sweden 임상유전학 의학박사(1991)

교육 및 연구 경력

  • 1991-1992 연세대학교 의과대학 소아과 연구강사
    1992-1997 연세대학교 의과대학 소아과 조교수
    1997-2002 연세대학교 의과대학 소아과 부교수
    2001-현재 연세대학교 의과대학 임상유전학과 과장
    2003-현재 연세대학교 의과대학 임상유전학과 교수

기타 학술 관련 경력

  • 대한소아과학회 간행위원
    대한소아과학회 학술위원
    대한생화학,분자생물학회 대의원
    한국 유전학회 이사
    대한의학유전학회 간행위원
    국립보건원 유전질환과 과장
    PCR direct sequencing (cycle sequencing 기술) 개발

연구,관심분야

  • 유전자 기능 및 이상 (functional genomics)
    유전질환 및 유전자 검사 (genetic disease and DNA diagnosis)
    유전자 치료 (gene therapy)
    생물 정보학 (bioinformatics)

강의분야

  • 소아과학
    유전학
    분자유전학
    Genomics

논문

  • An unusual case of monozygotic epigastric heteropagus twinning. Pediatr Surgery 31:1457-1460, 1996
  • Prevalent and novel mutations of the tyrosinase(TYR) gene in Korean patients with tyrosinase-deficient oculocutaneous albinism(OCA1). Mol Cell 7:187-191, 1997
  • DNA-based prenatal diagnosis of a Korean family with tyrosinase-deficient oculocutaneous albinism(OCA1) Jap J Hum Genet 42:499-505, 1997
  • Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria. Hum Genet 100:63-66, 1997
  • Homozygous deletion of the CDKN2 gene and loss of heterozygosity of 9p in primary hepatocellular carcinoma. Cancer Letters 122:201-207, 1998
  • Effect of topical Na-hyaluronan on hemidesmosome formation in n-heptanol- induced corneal injury. Ophthalmic Res 30:96-100, 1998
  • Prevalence of congenital malformations and genetic diseases in Korea. J Hum Genet 44:30-34, 1999
  • Effect of topically applied 0.1% dexamethasone on endothelial healing and aqueous composition during the repair process of rabbit corneal alkali wounds. Curr Eye Res 18:110-116, 1999
  • Pyloric atresia with junctional epidermolysis bullosa syndrome: absence of detectable 4 integrin and reduced expression of epidermal linear IgA dermatosis antigen. Int J Dermatol, 38:464-473, 1999
  • Chromosome abnormalities in a referred population for suspected chromosomal aberrations: A report of 4117 cases. J Kor Med Sci 14:373-376, 2000
  • Characterization of a novel DNA polymorphism in the human CYP 21 gene and application for DNA diagnosis of congenital adrenal hyperplasia. Clin Endocrinol 53:419-422, 2000
  • Expression of genes involved in mammalian meiosis during the transition from egg to embryo. Mol Reprod Develop 2001
  • Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia
    CLINICAL ENDOCRINOLOGY 53/0 :419-422,2000
  • A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.
    J Inher Metabol Dis 24/0 :509-510,2001
  • Expression of genes involved in mammalian meiosis during the transition from egg to embryo
    MOLECULAR REPRODUCTION AND DEVELOPMENT 0/0 :1-15,2001
  • ON THE CONSISTENT IDENTIFICATION PROCEDURES OF AU-TOREGRESSIVE MOVING-AVERAGE PROCESS
    YONSEI BUSINESS REVIEW 24/1 :191-210,2002
  • Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with mocrosatellite instability
    ONCOGENE 21/21 :5081-5087,2002
  • In vivo differentiation of mouse embryonic stem cells into hepatocytes
    CELL TRANSPLANTATION / :-,2002
  • 선천성 근긴장성 이영양증 1례
    대한신생아학회지(Journal of Korean Society Neonatology) 9/2 :204-210,2002
  • 신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
    대한주산의학회지(Korean Journal Of Perinatology) 14/1 :50-55,2003
  • 신생아 지속성 폐동맥 고혈압증을 동반한 태아 알코올 증후군 1례
    KOREAN JOURNAL OF PEDIATRICS 47/11 :1220-1224,2004
  • 중증근무력증 환자의 CTLA-4 유전자 다형성
    대한신경과학회지(JournalOfTheKoreanNeurologicalAssociation) 22/5 :504-507,2004
  • Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4)
    EXPERIMENTAL DERMATOLOGY 13/ :61-64,2004
  • Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria
    EXPERIMENTAL AND MOLECULAR MEDICINE 38/6 :652-661,2006
  • PADB: Published association database
    BMC BIOINFORMATICS 8/ :348-,2007
  • Temporal bone CT findings in Cornelia de Lange syndrome
    American Journal Of Neuroradiology 29/ :569-573,2008
  • 한국인 von Hippel-Lindau 병 환자에서 신세포암의 임상적 특성
    Korean Journal of Urology 49/10 :863-867,2008
  • Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis
    Metabolic Brain Disease 23/3 :235-242,2008
  • De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence
    Korean Journal of Pediatrics 52/5 :603-606,2009
  • MedRefSNP: A database of medically investigated SNPs
    Human Mutation 30/3 :460-466,2009
  • Clinical Characteristics of Renal Cell Carcinoma in Korean Patients with von Hippel-Lindau Disease Compared to Sporadic Bilateral or Multifocal Renal Cell Carcinoma
    Journal Of Korean Medical Science 24/6 :1145-1149,2009
  • Behavioral improvement after transplantation of neural precursors derived from embryonic stem cells into the globally ischemic brain of adolescent rats
    Brain & Development 32/8 :658-668,2010
  • 신생아기에 진단된 미토콘드리아 질환 3례
    Journal Of The Korean Society Of Neonatology(대한신생아학회지) 17/2 :254-261,2010
  • Survival analysis of spinal muscular atrophy type I
    Korean Journal of Pediatrics 53/11 :965-970,2010
  • X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
    YONSEI MEDICAL JOURNAL 52/3 :547-550,2011
  • Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency
    Korean Journal of Pediatrics 54/10 :425-428,2011
  • The first case of familial mediterranean fever associated with renal amyloidosis in Korea
    YONSEI MEDICAL JOURNAL 53/2 :454-458,2012
  • Genetic and Epileptic Features in Rett Syndrome
    YONSEI MEDICAL JOURNAL 53/3 :495-500,2012
  • A modified Atkin's diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation
    NEUROLOGY ASIA 19/3 :327-329,2014
  • Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease
    JOURNAL OF HUMAN GENETICS 59/9 :488-493,2014
  • Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain
    JOURNAL OF DERMATOLOGICAL SCIENCE 76/1 :74-76,2014
  • Lipidomic profiling of plasma and urine from patients with Gaucher disease during enzyme replacement therapy by nanoflow liquid chromatography-tandem mass spectrometry
    JOURNAL OF CHROMATOGRAPHY A 1381/0 :132-139,2015
  • Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family
    JOURNAL OF DERMATOLOGY 42/6 :655-657,2015
  • 천식 치료 중 우연히 발견된 Birt-Hogg-Dube 증후군 1예
    Allergy Asthma & Respiratory Disease 3/3 :232-235,2015
  • Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease
    JOURNAL OF HUMAN GENETICS 61/2 :143-149,2016
  • Mucocutaneous Telangiectasia as a Diagnostic Clue of Hereditary Hemorrhagic Telangiectasia: An Activin Receptor-Like Kinase-1 Mutation in a Korean Patient
    ANNALS OF DERMATOLOGY 28/2 :264-266,2016
  • Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS
    ANALYTICAL AND BIOANALYTICAL CHEMISTRY 408/9 :2265-2274,2016
  • Identification of disease comorbidity through hidden molecular mechanisms
    SCIENTIFIC REPORTS 6/39433 :1-8,2016
  • Diagnosis of Severe Protein C Deficiency Confirmed by Presence of Rare PROC Gene Mutation
    Neonatal medicine 23/4 :233-237,2016
  • Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
    YONSEI MEDICAL JOURNAL 58/5 :1,078-1,080,2017
  • Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
    YONSEI MEDICAL JOURNAL 58/5 :1,078-1,080,2017
  • A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor
    Journal of the Korean Child Neurology Society(대한소아신경학회지) 25/3 :200-203,2017

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