- Evaluation of 16S rRNA Databases for Taxonomic Assignments Using a Mock Community
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Park SC, Won S
- KMID: 2439214
- Genomics Inform.
- 2018 Dec;16(4):e24.
- doi: 10.5808/GI.2018.16.4.e24
Taxonomic identification is fundamental to all microbiology studies. Particularly in metagenomics, which identifies the composition of microorganisms using thousands of sequences, its importance is even greater. Identification is inevitably affected... -
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- Introduction of Bioinformatic Methods for the Gene Function Analysis
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Kim SS
- KMID: 760527
- Korean J Hepatol.
- 2004 Mar;10(1):11-21.
No abstract available. -
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- The OAuth 2.0 Web Authorization Protocol for the Internet Addiction Bioinformatics (IABio) Database
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Choi J, Kim J, Lee DK, Jang KS, Kim DJ, Choi IY
- KMID: 2166536
- Genomics Inform.
- 2016 Mar;14(1):20-28.
- doi: 10.5808/GI.2016.14.1.20
Internet addiction (IA) has become a widespread and problematic phenomenon as smart devices pervade society. Moreover, internet gaming disorder leads to increases in social expenditures for both individuals and nations... -
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- StrokeBase: A Database of Cerebrovascular Disease-related Candidate Genes
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Kim YU, Kim IH, Bang OS, Kim YJ
- KMID: 2166413
- Genomics Inform.
- 2008 Sep;6(3):153-156.
Complex diseases such as stroke and cancer have two or more genetic loci and are affected by environmental factors that contribute to the diseases. Due to the complex characteristics of... -
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- Doctors Discussing “the Root of Koreansâ€: Medical Genetics and the Korean Origin, 1975–1987
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Hyun J
- KMID: 2457673
- Korean J Med Hist.
- 2019 Aug;28(2):551-590.
- doi: 10.13081/kjmh.2019.28.551
Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and... -
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- Bioethics and privacy right on genetic epidemiology
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Kim JH
- KMID: 2303869
- Korean J Epidemiol.
- 2007 Jun;29(1):13-20.
Unlike the classical genetic study which dealt with the mendelian inheritances of relatively small number of patients, the genetic epidemiology study needs the large scaled genetic data base. The main... -
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- Comparison of Targeted Next-Generation and Sanger Sequencing for the BRCA1 and BRCA2 Mutation Screening
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Park J, Jang W, Chae H, Kim Y, Chi HY, Kim M
- KMID: 2373527
- Ann Lab Med.
- 2016 Mar;36(2):197-201.
- doi: 10.3343/alm.2016.36.2.197
No abstract available. -
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- Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
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Jang JH, Ko JM, Yang SW, Chae JH, Bae EJ
- KMID: 2369027
- J Genet Med.
- 2016 Dec;13(2):99-104.
- doi: 10.5734/JGM.2016.13.2.99
Cantú syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects.... -
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- A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
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Kim J, Ko JM, Shin SH, Kim EK, Kim HS
- KMID: 2470099
- J Genet Med.
- 2019 Dec;16(2):62-66.
- doi: 10.5734/JGM.2019.16.2.62
Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is... -
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- Discrepant Satellitism for Identification of Granulicatella adiacens Isolates
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Koh YR, Yi J, Kim HH, Chang CL, Kim SY
- KMID: 1791916
- Ann Lab Med.
- 2014 Mar;34(2):174-176.
- doi: 10.3343/alm.2014.34.2.174
No abstract available. -
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- Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria
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Lee WK, Oh SH, Chung WY
- KMID: 2435367
- Child Kidney Dis.
- 2018 Oct;22(2):37-41.
- doi: 10.3339/jkspn.2018.22.2.37
PURPOSE: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional... -
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- Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
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Cho SY, Kim JH
- KMID: 2435967
- J Genet Med.
- 2018 Jun;15(1):17-19.
- doi: 10.5734/JGM.2018.15.1.17
Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with... -
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- Development of Korean Rare Disease Knowledge Base
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Seo H, Kim D, Chae JH, Kang HG, Lim BC, Cheong HI, Kim JH
- KMID: 2284562
- Healthc Inform Res.
- 2012 Dec;18(4):272-278.
- doi: 10.4258/hir.2012.18.4.272
OBJECTIVES: Rare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A... -
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- The Korean HapMap Project Website
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Kim YU, Kim SH, Jin H, Park YK, Ji M, Kim YJ
- KMID: 2166346
- Genomics Inform.
- 2008 Jun;6(2):91-94.
Single nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and are a resource for mapping complex genetic traits. A genome is covered by millions of these... -
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- A Prospective Epidemiological Study on Birth Defects: A Community Based Pilot Study
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Kim HJ, Kim YK, Koh DK, Choi BW
- KMID: 2207531
- J Korean Pediatr Soc.
- 2000 Jun;43(6):738-745.
PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This... -
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- Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)
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Lee D, Jang JH, Lee CG
- KMID: 2451624
- J Genet Med.
- 2019 Jun;16(1):27-30.
- doi: 10.5734/JGM.2019.16.1.27
Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It... -
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- Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
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Jang MJ, Lee CG, Kim HJ
- KMID: 2435952
- J Genet Med.
- 2018 Dec;15(2):110-114.
- doi: 10.5734/JGM.2018.15.2.110
Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM... -
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- A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome
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Kim S, Song DG, Bae JW, Choi SY, Kim UK, Choi YJ, Lee KY, Lee SH, Lee JR
- KMID: 2007193
- Clin Exp Otorhinolaryngol.
- 2009 Jun;2(2):100-102.
- doi: 10.3342/ceo.2009.2.2.100
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791).... -
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- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
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Park JM, Lee YJ, Park JS
- KMID: 2435949
- J Genet Med.
- 2018 Dec;15(2):97-101.
- doi: 10.5734/JGM.2018.15.2.97
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male... -
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- Downregulation of N-myc and STAT Interactor Protein Predicts Aggressive Tumor Behavior and Poor Prognosis in Invasive Ductal Carcinoma
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Choi JE, Hyun CL, Jin MS, Lee KM, Moon JH, Ryu HS
- KMID: 2470880
- J Breast Cancer.
- 2020 Feb;23(1):36-46.
- doi: 10.4048/jbc.2020.23.e12
PURPOSE: We investigated the expression of the N-myc and STAT interactor (NMI) protein in invasive ductal carcinoma tissue and estimated its clinicopathologic significance as a prognostic factor. The expression levels... -
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