Ko, Jung Min
Department
Clinical Genetics
Specialty
Appointment
Rare genetic disorder
,
Multiple malformation syndrome
,
Galactosemia
,
Skeletal system dysplasia
,
Genetic counseling
,
inherited metabolic disease
,
Chromosomal aberration
Education / Career
| Article | Monochorionic dizygotic twins with discordant sex and confined blood chimerism | ||
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| Announcements | Eur J Pediatr | Date of publication | 2014.09 |
| Co-researcher | Lee HJ, Yoon SC, Seong MW, Park SS, Choi JS, Oh SK | ||
| Article | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | ||
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| Announcements | J Hum Genet | Date of publication | 2014.06 |
| Co-researcher | Cheon CK, Sohn YB, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY | ||
| Article | Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX | ||
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| Announcements | Eur J Pediatr | Date of publication | 2013.08 |
| Co-researcher | Choi SA, Shin CH, Yang SW, Choi JS, Oh SK | ||
| Article | An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family | ||
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| Announcements | Eur J Med Genet | Date of publication | 2013.10 |
| Co-researcher | Min BJ, Seo ME, Choi JS, Oh SK, Jeon J, Kim E, Moon JE, Choi IH, Lee C, Kim OH, Cho TJ, Park WY | ||
| Article | Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study | ||
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| Announcements | Yonsei Med J | Date of publication | 2013.11 |
| Co-researcher | Lee CG, Park SJ, Yun JN, Kim HJ, Yim SY, Sohn YB | ||
| Article | Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1 | ||
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| Announcements | 대한의학유전학회지 | Date of publication | 2012.12 |
| Co-researcher | |||
| Article | A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene | ||
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| Announcements | 대한의학유전학회지 | Date of publication | 2012.12 |
| Co-researcher | |||
| Article | First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome | ||
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| Announcements | J Korean Med Sci | Date of publication | 2013.05 |
| Co-researcher | Choi IH, Baek GH, Kim KW | ||
| Article | Mutation Spectrum of NF1 and Clinical Characteristics in 78 Korean Patients With Neurofibromatosis Type 1 | ||
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| Announcements | Pediatr Neurol | Date of publication | 2013.06 |
| Co-researcher | Sohn YB, Jeong SY, Kim HJ, Messiaen LM | ||
| Article | Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation | ||
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| Announcements | Childs Nerv Syst | Date of publication | 2013.04 |
| Co-researcher | Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH | ||
| Article | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations | ||
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| Announcements | J Hum Genet | Date of publication | 2013.02 |
| Co-researcher | Sohn YB, Lee CG, Yang JA, Yun JN, Jung EJ, Jin HS, Park SJ, Jeong SY | ||
| Article | Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis. | ||
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| Announcements | J Genet Med | Date of publication | 2011 |
| Co-researcher | Ko JM, Yang JA, Jeong SY, Yoon SH | ||
| Article | Case Reports and Estimated Prevalence of Adrenal Pheochromocytoma in Patients with Neurofibromatosis Type I in Korea | ||
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| Announcements | Endocrinol Metab. | Date of publication | 2011 |
| Co-researcher | Jung JY, Ahn SJ, Yoon HY, Ko JM, Chung YS. | ||
| Article | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty | ||
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| Announcements | J Korean Soc Pediatr Endocrinol | Date of publication | 2011.04 |
| Co-researcher | Ko JM, Lee HS, Lee HS, Hwang JS | ||
| Article | Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis | ||
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| Announcements | J Genet Med | Date of publication | 2010 |
| Co-researcher | Ko JM, Kwack KS, Kim SH, Kim HJ | ||
| Article | A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII. | ||
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| Announcements | J Genet Med | Date of publication | 2010 |
| Co-researcher | Lee YJ, Ko JM, Park SS, Cheon CK | ||
| Article | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain | ||
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| Announcements | Korean J Pain | Date of publication | 2010 |
| Co-researcher | Park KB, Han KR, Lee JW, Kim SH, Kim DW, Kim C, Ko JM | ||
| Article | 한국 소아 및 청소년 Graves병의 자연 경과 및 예후 인자 | ||
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| Announcements | Korean J Pediatr | Date of publication | 2010 |
| Co-researcher | 송승민, 윤지석, 고정민, 전종근, 최진호, 유한욱 | ||
| Article | 한국인 Kabuki 증후군 환아들의임상적 표현형 및 세포유전학적 양상 | ||
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| Announcements | J Genet Med | Date of publication | 2010 |
| Co-researcher | Ko JM, Hwang JM, Kim HJ | ||
| Article | 비후성 심근병증으로 발현된 비전형적 영아형 폼페병 2례. | ||
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| Announcements | J Genet Med | Date of publication | 2009 |
| Co-researcher | 김은희, 고정민, 이범희, 김구환, 최진호, 유한욱 | ||
| Article | Glutamate Dehydrogenase (GLUD1) 유전자 돌연변이에 의한 HI/HA 증후군 1례 | ||
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| Announcements | J Korean Soc Pediatr Endocrinol. | Date of publication | 2009 |
| Co-researcher | 진혜영, 최진호, 김구환, 고정민, 유한욱 | ||
| Article | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy | ||
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| Announcements | J Korean Child Neurol Soc | Date of publication | 2009 |
| Co-researcher | 서창덕, 이은혜, 정민희, 염미선, 고정민, 유한욱, 고태성 | ||
| Article | 2형 당뇨병의 새로운 치료 | ||
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| Announcements | J Korean Soc Pediatr Endocrinol | Date of publication | 2009 |
| Co-researcher | 고정민 | ||
| Article | A novel COMP gene mutation in a kindred with multiple epiphyseal dysplasia | ||
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| Announcements | J Genet Med | Date of publication | 2009 |
| Co-researcher | Ko JM, Kwack KS, Baek GN, Cho DY, Kim HJ | ||
| Article | The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence | ||
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| Announcements | J Korean Med Sci | Date of publication | 2012.08 |
| Co-researcher | Ko JM, Shin CH, Yang SW, Seong MW, Park SS, Song J | ||
| Article | Molecular Genetic Analysis of TWIST1 and FGFR3 Gene in Korean Patients with Coronal Synostosis: Identification of 3 Novel TWIST1 Mutations | ||
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| Announcements | Plast Reconstr Surg | Date of publication | 2012.05 |
| Co-researcher | Ko JM, Jeong SY, Yang JA, Park DH, Yoon SH | ||
| Article | E23K polymorphism of the KCNJ11gene in Korean children with type 1 diabetes | ||
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| Announcements | World J Pediatr | Date of publication | 2012.05 |
| Co-researcher | Ko JM, Yang S, Kim SY, Lee HS, Hwang JS, Hwang IT | ||
| Article | Clinical Phenotype and Mutation Spectrum of the CYP21A2 Gene in Patients with Steroid 21-Hydroxylase Deficiency. | ||
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| Announcements | Exp Clin Endocr Diab | Date of publication | 2012.01 |
| Co-researcher | Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW. | ||
| Article | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder | ||
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| Announcements | Pediatr Neurol | Date of publication | 2010.05 |
| Co-researcher | Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW | ||
| Article | Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease | ||
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| Announcements | Exp Mol Med | Date of publication | 2009.01 |
| Co-researcher | Park JY, Kim GH, Kim SS, Ko JM, Lee JJ, Yoo HW | ||
| Article | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | ||
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| Announcements | Mol Med Report | Date of publication | 2012.04 |
| Co-researcher | Ko JM, Yang JA, Jeong SY, Kim HJ. | ||
| Article | Association between insulin-like growth factor binding protein-2 levels and cardiovascular risk factors in Korean children | ||
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| Announcements | Endocr J | Date of publication | 2012.04 |
| Co-researcher | Ko JM, Park HK, Yang S, Kim EY, Chung SC, Hwang IT | ||
| Article | A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy | ||
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| Announcements | Cornea | Date of publication | 2011.12 |
| Co-researcher | Kim JH, Ko JM, Lee I, Kim JY, Kim MJ, Tchah H | ||
| Article | Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome | ||
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| Announcements | J Korean Med Sci | Date of publication | 2010.12 |
| Co-researcher | Ko JM, Kim JB, Pai KS, Yun JN, Park SJ | ||
| Article | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect | ||
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| Announcements | Endocr | Date of publication | 2010.08 |
| Co-researcher | Ko JM, Lee HS, Hwang JS | ||
| Article | Clinical features and outcomes of holoprosencephaly in Korea | ||
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| Announcements | Pediatr Neurol | Date of publication | 2010.10 |
| Co-researcher | Ko JM, Kim SH | ||
| Article | Influence of parental origin of the X-chromosome on physical phenotypes and growth hormone responsiveness of patients with Turner syndrome | ||
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| Announcements | Clin Endocrinol | Date of publication | 2010.07 |
| Co-researcher | Ko JM, Kim JM, Kim GH, Lee BH, Yoo HW | ||
| Article | The common exon 3 polymorphism of the growth hormone receptor (GHR) gene and effect of growth hormone therapy on growth in Korean patients with Turner syndrome | ||
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| Announcements | Clin Endocrinol | Date of publication | 2010.02 |
| Co-researcher | Ko JM, Kim JM, Cheon CK, Kim DH, Lee DY, Cheong WY, Kim EY, Park MJ, Yoo HW | ||
| Article | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5a-reductase type 2 deficiency | ||
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| Announcements | Horm Res Paediatr | Date of publication | 2010.01 |
| Co-researcher | Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, Yoo HW | ||
| Article | A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene | ||
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| Announcements | Eur J Pediatr | Date of publication | 2009.07 |
| Co-researcher | Ko JM, Cheon CK, Kim GH, Yoo HW | ||
| Article | Common exon 3 polymorphism of the growth hormone receptor (GHR) geneand effect of growth hormone therapy on growth in Korean children with idiopathic short stature | ||
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| Announcements | Clin Endocrinol | Date of publication | 2009.01 |
| Co-researcher | Ko JM, Park JY, Yoo HW | ||
| Article | Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis | ||
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| Announcements | J of Korean Med Sci | Date of publication | 2008.10 |
| Co-researcher | Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW | ||
| Article | PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation, in Korean patients with Noonan syndrome | ||
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| Announcements | J Hum Genet | Date of publication | 2008 |
| Co-researcher | Ko JM, Cheon CK, Kim GH, Yoo HW | ||
| Article | Six cases of citrin deficiency in Korea | ||
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| Announcements | Int J Mol Med | Date of publication | 2007 |
| Co-researcher | Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K, Yoo HW | ||
| Article | A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth | ||
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| Announcements | Eur J Pediatr | Date of publication | 2007 |
| Co-researcher | Ko JM, Lee JH, Kim GH, Kim AR, Yoo HW | ||