- Molecular screening for fragile x syndrome in mentally handicapped children in korea
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Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK
- KMID: 1129896
- J Korean Med Sci.
- 2001 Jun;16(3):271-275.
- doi: 10.3346/jkms.2001.16.3.271
Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This... -
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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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- A Cytogenetic Study in 120 Turkish Children with Intellectual Disability and Characteristics of Fragile X Syndrome
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Demirhan O, Tastemir D, Diler RS, Firat S, Avci A
- KMID: 720896
- Yonsei Med J.
- 2003 Aug;44(4):583-592.
- doi: 10.3349/ymj.2003.44.4.583
We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical... -
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