- Genentics in Rheumatoid Arthritis
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Lee HS
- KMID: 2168057
- Hanyang Med Rev.
- 2005 May;25(2):13-20.
The understanding of genetic factors contributed to the susceptibility or severity of rheumatoid arthritis (RA) might give new insights into the pathways involved in disease pathogenesis and lead to the... -
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- First Case of Diffuse Large B-Cell Lymphoma Subtype of Monomorphic Post-Transplant Lymphoproliferative Disorder With 3q27 Translocation
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Kim H, Kim IS, Lee EY, Shin DH, Cho SH
- KMID: 2373562
- Ann Lab Med.
- 2016 Jul;36(4):380-383.
- doi: 10.3343/alm.2016.36.4.380
No abstract available. -
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- A case of trisomy 6p due to maternal balanced translocation
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Lee KW, Kim MK, Kim YS, Lee OK
- KMID: 2280785
- Korean J Perinatol.
- 2008 Sep;19(3):318-321.
Trisomy 6p is an extremely rare disorder, in fact approximately 42 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation... -
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- A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation
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Song EJ, Jang YY, Park HJ, Lee KH, Lee KH, Choi EJ, Kim JK, Chung HL, Seo ES, Kim WT
- KMID: 1980173
- Korean J Perinatol.
- 2009 Jun;20(2):163-166.
There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not... -
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- A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization
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Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY
- KMID: 1096824
- Korean J Lab Med.
- 2010 Feb;30(1):84-88.
- doi: 10.3343/kjlm.2010.30.1.84
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital... -
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- Microcystic Meningiomas: Its Immunohistochemical and Genetic Aspect
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Koo SK, Han JY, Kim SJ, Kim KU
- KMID: 2067218
- J Korean Neurosurg Soc.
- 2006 Feb;39(2):136-140.
The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal... -
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- High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization
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Kang JU, Koo SH, Kwon KC, Park JW, Shin SY, Kim JM, Jung SS
- KMID: 1785788
- J Korean Med Sci.
- 2007 Sep;22(Suppl):S47-S51.
- doi: 10.3346/jkms.2007.22.S.S47
Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In... -
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- Analysis of Acute Myeloid Leukemia in Korean Patients with Sole Trisomy 6
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Yu S, Kwon MJ, Lee ST, Woo HY, Park H, Kim SH
- KMID: 1791959
- Ann Lab Med.
- 2014 Sep;34(5):402-404.
- doi: 10.3343/alm.2014.34.5.402
No abstract available. -
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- Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies
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Lee SJ, Han DK, Cho HJ, Cho YK, Ma JS
- KMID: 1714209
- J Korean Med Sci.
- 2012 Aug;27(8):948-952.
- doi: 10.3346/jkms.2012.27.8.948
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes.... -
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- A Case of Neonatal Diabetes Mellitus: Transient or Permanent?
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Lee DY, Yi HK, Hwang PH
- KMID: 2001527
- J Korean Soc Pediatr Endocrinol.
- 2000 Dec;5(2):210-214.
A case of neonatal diabetes mellitus is described. The child presented with low birth weight but was normal in appearance. She was acidotic and ketonuria was observed. The HLA typing... -
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- A Case of Interstitial Deletion [del(6)(q21q23)] with type 2 diabetes Mellitus and Mental Retardation
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Jung YD, Cho SJ, Kim HJ, Yoon WC, Yeo DG, Park JK, Lee JH, Shon HS
- KMID: 2177915
- J Korean Diabetes Assoc.
- 2000 Apr;24(2):281-284.
Chromosomal abnormalities such as Klinefelter syndrome, Down syndrome, Turner syndrome, Prader-Willi, Bardet-Biedl syndrome were associated with diabetes mellitus. Over 30 cases of interstitial deletions of the long arm of chromosome... -
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- Chromosome abnormalities in a referred population for suspected chromosomal aberrations: a report of 4117 cases
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Kim SS, Jung SC, Kim HJ, Moon HR, Lee JS
- KMID: 1731309
- J Korean Med Sci.
- 1999 Aug;14(4):373-376.
- doi: 10.3346/jkms.1999.14.4.373
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was... -
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- HLA and Disease Associations in Koreans
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Ahn S, Choi HB, Kim TG
- KMID: 2150716
- Immune Netw.
- 2011 Dec;11(6):324-335.
- doi: 10.4110/in.2011.11.6.324
The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related... -
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- Two Cases of Transient Neonatal Diabetes Mellitus in Twin Brothers
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Cho JH, Shin EW, Yang S, Park EY, Kim KN, Lee DY, Oh PS
- KMID: 1568756
- J Korean Soc Pediatr Endocrinol.
- 2004 Dec;9(2):204-207.
Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be... -
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- False Homozygosity Results in HLA Genotyping due to Loss of Chromosome 6 in a Patient with Acute Lymphoblastic Leukemia
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Park H, Hyun J, Park SS, Park MH, Song EY
- KMID: 1781698
- Korean J Lab Med.
- 2011 Oct;31(4):302-306.
- doi: 10.3343/kjlm.2011.31.4.302
Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes... -
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- Deletion of the Long Arm of Chromosome 6 Associated with Arachnoid Cyst and Brain Atropy
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Chae KY, Nam YH
- KMID: 2007266
- J Korean Child Neurol Soc.
- 1999 Dec;7(2):250-256.
Deletions of 6q chromosome are rare. Although 60 cases of deletions of the long arm of chromosome 6 have been reported in the literature, there was no reported case in... -
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- Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients
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Jin DK, Beck NS, Oh PS
- KMID: 1963061
- J Genet Med.
- 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within... -
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- A Case of VATER association Variant with a 46, XY, inv (6)(q11q16) Inversion
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Park DH, Jung DB, Yang ES, Park YB, Park SK
- KMID: 2207973
- J Korean Pediatr Soc.
- 1998 Mar;41(3):396-400.
VATER association of vertebral defects, imperforate anus, tracheoesophageal (T-E) fistula with esiphageal atresia, and radial and renal dysplasia are utilized to identify this complex. Other anomalies are vascular anomalies (cardiac... -
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- Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
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Jin HY, Choi JH, Kim GH, Yoo HW
- KMID: 2281327
- Korean J Pediatr.
- 2010 Mar;53(3):432-436.
- doi: 10.3345/kjp.2010.53.3.432
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the... -
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- Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia
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Kwon HJ, Park JA, Lee SL, Kim HS, Jeon DS, Jin DK, Hwang PH
- KMID: 2193629
- J Korean Soc Pediatr Endocrinol.
- 2002 Jun;7(1):116-121.
A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball... -
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