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11 results

Rapid prenatal diagnosis of spinocerebellar ataxia type 3 by using fluorescent PCR

Kim DJ, Park SY, Kim MJ, Lee MH, Shim SH, Ryu HM

  • J Genet Med.
  • 2007 Jun;4(1):84-87.
Spinocerebellar Ataxia Type 3 (SCA3) is a rare autosomal dominative disorder in which one of the neurodegenerative disorders is caused by a CAG repeat expansion on chromosome 14q32.1. The age...
Prenatal diagnosis of a de novo ring chromosome 11

Park JY, Lee MH, Lee BY, Lee YW, Ryu HM, Park SY

  • J Genet Med.
  • 2007 Jun;4(1):80-83.
A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening...
AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

Ko JM, Kim GH, Yoo HW

  • J Genet Med.
  • 2007 Jun;4(1):72-79.
PURPOSE: Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching...
Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization:Clinical experience with 309 cases

Kang JH, Lee SH, Park SH, Park JH, Kim JY, Han WB, Kim IH, Park SW, Jang JB, Lee KJ, Park HJ, Jun HS, Lee KJ, Shin JS, Cha DH

  • J Genet Med.
  • 2007 Jun;4(1):64-71.
PURPOSE: The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis METHODS: A...
A cost-benefit analysis on tandem mass spectrometry of inherited metabolic diseases in Korea

Ryu HO, Lee DH, Choi TY, Yoon HR

  • J Genet Med.
  • 2007 Jun;4(1):53-63.
PURPOSE: Tandem mass spectrometry (MS/MS) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (MS/MS) to screen...
Determination of plasma C16-C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease

Yoon HR, Cho K, Yoo HW, Choi JH, Lee DH, Zhang K, Keutzer J

  • J Genet Med.
  • 2007 Jun;4(1):45-52.
PURPOSE: A simple, rapid, and highly sensitive analytical method for Gb3 in plasma was developed without labor-extensive pre-treatment by electrospray ionization MS/MS (ESI-MS/MS). Measurement of globotriaosylceramide (Gb3, ceramide trihexoside) in...
Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis

Choi JH, Kim GH, Yoo HW

  • J Genet Med.
  • 2007 Jun;4(1):38-44.
PURPOSE: Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type ATPase. The phenotypic features are progressive neurological degeneration, mental retardation,...
Spinocerebellar ataxia 7 (SCA7)

Jeong SY, Jang SH, Kim HJ

  • J Genet Med.
  • 2007 Jun;4(1):22-37.
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At...
Hereditary cancer and genetic counseling

Jeong SY

  • J Genet Med.
  • 2007 Jun;4(1):15-21.
Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary...
Genetic counselling in prenatal genetic testing

Hwang D

  • J Genet Med.
  • 2007 Jun;4(1):6-14.
No abstract available.
Genetic counseling in Korean health care system

Kim HJ

  • J Genet Med.
  • 2007 Jun;4(1):1-5.
Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and...

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