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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

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

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

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

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

Park YK, Chi SG, Park HR, Yang MH, Unni KK

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

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

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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