- De Novo Pericentric Inversion of Chromosome 9 in Congenital Anomaly
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Jeong SY, Kim BY, Yu JE
- KMID: 1071432
- Yonsei Med J.
- 2010 Sep;51(5):775-780.
- doi: 10.3349/ymj.2010.51.5.775
PURPOSE: The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal... -
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- Screening of Subtelomeric Rearrangements in 100 Korean Pediatric Patients with Unexplained Mental Retardation and Anomalies Using Subtelomeric FISH (Fluorescence In Situ Hybridization)
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Park HK, Kim HJ, Kim HJ, Han SH, Kim YJ, Kim SH
- KMID: 1785812
- J Korean Med Sci.
- 2008 Aug;23(4):573-578.
- doi: 10.3346/jkms.2008.23.4.573
Rearrangements of the subtelomeric regions of chromosomes account for a significant proportion of the underlying genetic defects in both idiopathic mental retardation (MR) and multiple congenital anomalies. To detect the... -
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- No Association of Functional Polymorphisms in Methlylenetetrahydrofolate Reductase and the Risk and Minor Physical Anomalies of Schizophrenia in Korean Population
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Kim SG, Song JY, Joo EJ, Jeong SH, Kim SH, Lee KY, Lee NY, Ahn YM, Kim YS, Roh MS
- KMID: 1785995
- J Korean Med Sci.
- 2011 Oct;26(10):1356-1363.
- doi: 10.3346/jkms.2011.26.10.1356
Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism, plays an important role in DNA methylation. It has been suggested that abnormal DNA methylation contributes to the pathogenesis of schizophrenia... -
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