- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22
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Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC
- KMID: 2425993
- Ann Lab Med.
- 2017 Nov;37(6):516-521.
- doi: 10.3343/alm.2017.37.6.516
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in... -
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- Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
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Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH
- KMID: 2386610
- J Genet Med.
- 2017 Jun;14(1):43-47.
- doi: 10.5734/JGM.2017.14.1.43
Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects.... -
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- Detection of t(11;22)(q24;q12) translocation of Ewing's sarcoma in paraffin embedded tissue by nested reverse transcription-polymerase chain reaction
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Park YK, Chi SG, Park HR, Yang MH, Unni KK
- KMID: 1038167
- J Korean Med Sci.
- 1998 Aug;13(4):395-399.
- doi: 10.3346/jkms.1998.13.4.395
Ewing's sarcoma is a poorly characterized malignant tumor with a relatively uniform histologic appearance, made up of densely packed small cells with round to oval nuclei, without distinct cell... -
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- An Assiociation Study of Interleukin-2 Receptor beta-Chain Gene Polymorphism on Chromosome 22 in Korean Schizophrenic Patients
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Kim YK, Lee MS, Kim L, Kwak DI, Suh KY
- KMID: 2340167
- J Korean Neuropsychiatr Assoc.
- 1998 May;37(3):515-526.
BACKGROUND: While a significant genetic predisposition to schizophrenia has been proposed, the mode of inheritance or nature of etiological factors is unknown. Previous reports of a genome-wide survey for schizophrenia... -
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- Molecular Genetic Study on Human Meningiomas:Loss of Heterozygosity on Chromosome 22
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Kim JH, Lee SH, Park SY, Lee JH
- KMID: 2138513
- J Korean Neurosurg Soc.
- 1991 Apr;20(4):193-198.
With the methods of restriction fragment length polymorphisms(RFLPs) and Southern blot, we performed a molecular genetic study in 20 cases of intracranial meningiomas. There were four cases of invasive meningiomas,... -
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