- Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia
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Kang DH, Kim SH, Jun JW, Lee YW, Shin HB, Ahn JY, Hong DS, Lee YK, Jeon BR
- KMID: 1381689
- Ann Lab Med.
- 2012 May;32(3):220-224.
- doi: 10.3343/alm.2012.32.3.220
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1.... -
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- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
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Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
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- A Case of Chorioretinal Coloboma in Triple X Syndrome
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Lee NE, Park YJ, Yoo JM
- KMID: 2213006
- J Korean Ophthalmol Soc.
- 2009 Dec;50(12):1898-1901.
- doi: 10.3341/jkos.2009.50.12.1898
PURPOSE: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASE SUMMARY: A one-year-old female infant presented with 35PD exotropia in the primary... -
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- New Advances in Human X Chromosome Status from a Developmental and Stem Cell Biology
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Patterson , Tanaka Y, Park IH
- KMID: 2411861
- Tissue Eng Regen Med.
- 2017 Dec;14(6):643-652.
- doi: 10.1007/s13770-017-0096-4
Recent advances in stem cell biology have dramatically increased the understanding of molecular and cellular mechanism of pluripotency and cell fate determination. Additionally, pluripotent stem cells (PSCs), including embryonic stem... -
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- A Case of Fabry's Disease with Congenital Agammaglobulinemia
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Lee KY, Jeon SY, Hong JW, Kim SE, Song KH, Kim YH, Kim KH
- KMID: 1094273
- J Korean Med Sci.
- 2011 Jul;26(7):966-970.
- doi: 10.3346/jkms.2011.26.7.966
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide... -
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- The Common NF-kappaB Essential Modulator (NEMO) Gene Rearrangement in Korean Patients with Incontinentia Pigmenti
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Song MJ, Chae JH, Park EA, Ki CS
- KMID: 2157858
- J Korean Med Sci.
- 2010 Oct;25(10):1513-1517.
- doi: 10.3346/jkms.2010.25.10.1513
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-kappa B essential... -
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- A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
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Cho EH, Kim SY, Kim JK
- KMID: 1778839
- J Korean Med Sci.
- 2012 Oct;27(10):1273-1277.
- doi: 10.3346/jkms.2012.27.10.1273
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill... -
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- Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
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Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS
- KMID: 1713470
- J Korean Med Sci.
- 2008 Apr;23(2):328-331.
- doi: 10.3346/jkms.2008.23.2.328
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on... -
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- Clinicopathological features of Xp11.2 translocation renal cell carcinoma
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Lim B, You D, Jeong IG, Kwon T, Hong S, Song C, Cho YM, Hong B, Hong JH, Ahn H, Kim CS
- KMID: 2133289
- Korean J Urol.
- 2015 Mar;56(3):212-217.
- doi: 10.4111/kju.2015.56.3.212
PURPOSE: Xp11.2 translocation renal cell carcinoma (RCC) is characterized by various translocations of the TFE3 transcription factor gene. These rare cancers occur predominantly in children and young adults. Here, we... -
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- Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
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Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH
- KMID: 2373761
- J Korean Med Sci.
- 2016 Aug;31(8):1307-1318.
- doi: 10.3346/jkms.2016.31.8.1307
X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties... -
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