- Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing
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Ko J, Lee HJ, Lee JS, Yoon JS
- KMID: 2418951
- Yonsei Med J.
- 2017 Sep;58(5):1078-1080.
- doi: 10.3349/ymj.2017.58.5.1078
A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To... -
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- Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis
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Lee KH, Lim JH, Kim JH
- KMID: 1806269
- Genomics Inform.
- 2013 Mar;11(1):38-45.
- doi: 10.5808/GI.2013.11.1.38
In cancer genome studies, the annotation of newly detected oncogene/tumor suppressor gene candidates is a challenging process. We propose using concept lattice analysis for the annotation and interpretation of genes... -
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- Direct detection of hemophilia B F9 gene mutation using multiplex PCR and conformation sensitive gel electrophoresis
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Yoo KY, Kim HJ, Lee KC
- KMID: 2281322
- Korean J Pediatr.
- 2010 Mar;53(3):397-407.
- doi: 10.3345/kjp.2010.53.3.397
PURPOSE: The F9 gene is known to be the causative gene for hemophilia B, but unfortunately the detection rate for restriction fragment length polymorphism-based linkage analysis is only 55.6%. Direct... -
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- The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
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Jeong SY, Park SJ, Kim HJ
- KMID: 2157792
- J Korean Med Sci.
- 2006 Feb;21(1):107-112.
- doi: 10.3346/jkms.2006.21.1.107
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and... -
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- Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
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Choi BO, Hwang JH, Cho EM, Jeong EH, Hyun YS, Jeon HJ, Seong KM, Cho NS, Chung KW
- KMID: 1078360
- Exp Mol Med.
- 2010 Jun;42(6):446-455.
- doi: 10.3858/emm.2010.42.6.046
Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make the exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mtDNA mutations in 61 Korean... -
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- Expression and Mutational Analysis of c-kit in Ovarian Surface Epithelial Tumors
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Kim DJ, Lee MH, Park TI, Bae HI
- KMID: 2157787
- J Korean Med Sci.
- 2006 Feb;21(1):81-85.
- doi: 10.3346/jkms.2006.21.1.81
Coexpression of Kit ligand and c-kit has been reported in some gynecologic tumors. To determine whether imatinib mesylate is useful in ovarian epithelial tumors, we performed immunohistochemical and mutational analysis.... -
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- A Case Report of X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy`s Syndrome)
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Kang SH, Chun MH, Lee JW, Cha EH, Yoo HW
- KMID: 2338708
- J Korean Geriatr Soc.
- 2007 Sep;11(3):174-179.
We had 58-year-old-man with chronic lower back pain, progressive whole extremities and facial muscle weakness, dysarthria and recurrent aspiration during swallowing, without any sensory disturbance. His two brothers had similar... -
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- The Role of Microsatellite Instability in Early Gastric Cancer
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Kim JJ
- KMID: 1112582
- Korean J Gastroenterol.
- 2008 Mar;51(3):209-211.
No abstract availble. -
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- Persistent α-Fetoprotein Elevation in Healthy Adults and Mutational Analysis of α-Fetoprotein Promoter, Enhancer, and Silencer Regions
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Jeon Y, Choi YS, Jang ES, Kim JW, Jeong SH
- KMID: 2412165
- Gut Liver.
- 2017 Jan;11(1):136-141.
- doi: 10.5009/gnl16069
BACKGROUND/AIMS: α-Fetoprotein (AFP) is normally 1 year, and 20 controls with low AFP levels ( -
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- A Case of Fabry Disease Diagnosed by Molecular Analysis of alpha-galactosidase A Gene
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Chin BS, Kim JI, Lee JS, Hong SW, Chung HJ, Kim HM, Kim DK, Goo YS, Lee HY
- KMID: 1989647
- Korean J Nephrol.
- 2002 Nov;21(6):1015-1019.
Fabry disease is a X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. This abnormality in enzyme results intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with... -
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- Molecular Genetic Analysis of the Ryanodine Receptor Gene (RYR1) in Korean Malignant Hyperthermia Families
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Lee H, Kim DC, Lee JH, Cho YG, Lee HS, Choi SI, Kim DS
- KMID: 1781679
- Korean J Lab Med.
- 2010 Dec;30(6):702-710.
- doi: 10.3343/kjlm.2010.30.6.702
BACKGROUND: Malignant hyperthermia (MH) is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. However,... -
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- Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
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Jang MA, Kim OH, Kim SW, Ki CS
- KMID: 2363219
- Ann Lab Med.
- 2015 May;35(3):387-389.
- doi: 10.3343/alm.2015.35.3.387
No abstract available. -
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- Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma
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Kim YM, Lee SW, Lee YJ, Lee HY, Lee JE, Choi EK
- KMID: 2440515
- J Gynecol Oncol.
- 2019 May;30(3):e32.
- doi: 10.3802/jgo.2019.30.e32
OBJECTIVE: Somatic TP53 mutation (TP53mut ) is a characteristic finding in high-grade serous ovarian cancer (HGSOC). The aim of this study was to assess the clinical efficacy and utility of TP53mut circulating... -
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- Two Cases of Acute Lymphoblastic Leukemia with an e1a3 BCR-ABL1 Fusion Transcript
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Shin SY, Cho JH, Kim HJ, Jang JH, Lee ST, Kim SH
- KMID: 2363168
- Ann Lab Med.
- 2015 Jan;35(1):159-161.
- doi: 10.3343/alm.2015.35.1.159
No abstract available. -
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- Identification of Two Novel NPM1 Mutations in Patients with Acute Myeloid Leukemia
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Jeon Y, Seo SW, Park S, Park S, Kim SY, Ra EK, Park SS, Seong MW
- KMID: 1781299
- Ann Lab Med.
- 2013 Jan;33(1):60-64.
- doi: 10.3343/alm.2013.33.1.60
BACKGROUND: Genetic abnormalities in adult AML are caused most frequently by somatic mutations in exon 12 of the NPM1 gene, which is observed in approximately 35% of AML patients and... -
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- A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
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Kim YH, Cho JT
- KMID: 1779401
- J Korean Med Sci.
- 2011 Sep;26(9):1238-1240.
- doi: 10.3346/jkms.2011.26.9.1238
Acute renal failure with severe loin pain which develops after anaerobic exercise is rare. One of predisposing factors of exercise-induced acute renal failure is renal hypouricemia. Idiopathic renal hypouricemia is... -
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- Mitochondrial DNA Aberrations of Bone Marrow Cells from Patients with Aplastic Anemia
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Kim HR, Shin MG, Kim MJ, Kim HJ, Shin JH, Suh SP, Ryang DW
- KMID: 1107534
- J Korean Med Sci.
- 2008 Dec;23(6):1062-1067.
- doi: 10.3346/jkms.2008.23.6.1062
This study was undertaken primarily to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia. Complete mtDNA nucleotide sequence was analyzed in nine and eight... -
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- Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea
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Lee ES, Cho AR, Ki CS
- KMID: 1380094
- Ann Lab Med.
- 2012 Jul;32(4):312-315.
- doi: 10.3343/alm.2012.32.4.312
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl(-)-rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene,... -
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- Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement
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Seo SH, Park MJ, Kim SH, Kim OH, Park S, Cho SI, Park SS, Seong MW
- KMID: 1781317
- Ann Lab Med.
- 2013 Mar;33(2):150-152.
- doi: 10.3343/alm.2013.33.2.150
Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the... -
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- Application of DNA chip techniques for Yq microdeletion analysis in infertile males
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Lee S, Joo HS, Lee SH, Park JE, Kim JM, Hwang JH, Cho KS, Hwang SY
- KMID: 1380213
- Exp Mol Med.
- 2004 Apr;36(2):179-184.
Our aim was to apply DNA chip technology as a diagnostic tool in infertility research and clinics. Six loci, including a sex-determining region on the Y chromosome and five sequence-tagged... -
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