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HOME > Hospitals > Severance Hospital > Departments > Clinical Genetics > Physician Directory

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Jinsung Lee
doctor's information
Name Jinsung Lee
Department
Major Molecular Genetics
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Research

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

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

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

Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis
JOURNAL OF DERMATOLOGICAL SCIENCE 88/3 :370-372,2017

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
SCIENTIFIC REPORTS 7/ :1038-1-1038-10,2017

Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Pediatric Gastroenterology, Hepatology & Nutrition 20/4 :259-262,2017

A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia
JOURNAL OF CLINICAL NEUROLOGY 14/4 :596-597,2018

Oral Pyridostigmine-Responsive Visceral Myopathy with ACTG2 Mutations: A case series
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION 16/ :1-4,2018

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