- 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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- 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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- The First Case of Concurrent Infective Endocarditis and Spondylitis Caused by Streptococcus tigurinus
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Kim B, Huh HJ, Chung DR, Kim WS, Ki CS, Lee NY
- KMID: 2363273
- Ann Lab Med.
- 2015 Nov;35(6):654-656.
- doi: 10.3343/alm.2015.35.6.654
No abstract available. -
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- Cryptic e1a2 BCR-ABL1 Fusion With Complex Chromosomal Abnormality in de novo Myelodysplastic Syndrome
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Seo BY, Lee JH, Kang MG, Choi SY, Kim SH, Shin JH, Suh SP, Ryang DW, Shin MG
- KMID: 2363270
- Ann Lab Med.
- 2015 Nov;35(6):643-646.
- doi: 10.3343/alm.2015.35.6.643
No abstract available. -
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- Differences in Hematological and Clinical Features Between Essential Thrombocythemia Cases With JAK2- or CALR-Mutations
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Kubuki Y, Shide K, Kameda T, Yamaji T, Sekine M, Kamiunten , Akizuki K, Shimoda H, Tahira Y, Nakamura K, Abe H, Miike T, Iwakiri H, Tahara Y, Sueta M, Hashimoto , Yamamoto S, Hasuike S, Hidaka T, Nagata K, Kitanaka A, Shimoda K
- KMID: 2373635
- Ann Lab Med.
- 2017 Mar;37(2):159-161.
- doi: 10.3343/alm.2017.37.2.159
No abstract available. -
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- Parentage testing of Thoroughbred horse in Korea using microsatellite DNA typing
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Lee SY, Cho GJ
- KMID: 1103556
- J Vet Sci.
- 2006 Mar;7(1):63-67.
- doi: 10.4142/jvs.2006.7.1.63
The present study was to construct a parentage testing system for Thoroughbred (TB) horse. A total number of 1,285 TB horse samples including 962 foals for parentage testing, 9 sires... -
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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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- Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
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Jang MA, Lee T, Lee J, Cho EH, Ki CS
- KMID: 2363211
- Ann Lab Med.
- 2015 May;35(3):362-365.
- doi: 10.3343/alm.2015.35.3.362
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including... -
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- Two Cases of Isolated Diffuse Mesangial Sclerosis with WT1 Mutations
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Hahn H, Cho YM, Park YS, You HW, Cheong HI
- KMID: 2157801
- J Korean Med Sci.
- 2006 Feb;21(1):160-164.
- doi: 10.3346/jkms.2006.21.1.160
Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia.... -
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- Duffy Blood Group Genotyping in Thai Blood Donors
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Nathalang , Intharanut K, Siriphanthong K, Nathalang , Kupatawintu P
- KMID: 2363265
- Ann Lab Med.
- 2015 Nov;35(6):618-623.
- doi: 10.3343/alm.2015.35.6.618
BACKGROUND: Duffy (FY) blood group genotyping is important in transfusion medicine because Duffy alloantibodies are associated with delayed hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. In... -
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- Identification of single-nucleotide polymorphisms of the prion protein gene in sika deer (Cervus nippon laiouanus)
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Jeong HJ, Lee JB, Park SY, Song CS, Kim BS, Rho JR, Yoo MH, Jeong YH, Kim YS, Choi IS
- KMID: 1090807
- J Vet Sci.
- 2007 Sep;8(3):299-301.
- doi: 10.4142/jvs.2007.8.3.299
Polymorphisms of the prion protein gene (PRNP) havebeen detected in several cervid species. In order toconfirm the genetic variations, this study examined theDNA sequences of the PRNP obtained from 33... -
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- A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b
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Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW
- KMID: 1778514
- J Korean Med Sci.
- 2005 Jun;20(3):499-501.
- doi: 10.3346/jkms.2005.20.3.499
We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and... -
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- Molecular Identification of Oesophagostomum and Trichuris Eggs Isolated from Wild Japanese Macaques
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Arizono N, Yamada M, Tegoshi T, Onishi K
- KMID: 1387415
- Korean J Parasitol.
- 2012 Sep;50(3):253-257.
- doi: 10.3347/kjp.2012.50.3.253
Natural habitat fragmentation and reducing habitat quality have resulted in an increased appearance of Japanese macaques, Macaca fuscata (Gray, 1870), in suburban areas in Japan. To investigate the risk of... -
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- Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland
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Peletto S, Perucchini M, Acin C, Dalgleish , Reid HW, Rasero R, Sacchi P, Stewart P, Caramelli , Ferroglio , Bozzetta E, Meloni D, Orusa R, Robetto S, Gennero S, Goldmann W, Acutis PL
- KMID: 1102967
- J Vet Sci.
- 2009 Jun;10(2):115-120.
- doi: 10.4142/jvs.2009.10.2.115
The genetics of the prion protein gene (PRNP) play a crucial role in determining the relative susceptibility to transmissible spongiform encephalopathies (TSEs) in several mammalian species. To determine the PRNP... -
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