- Rapid prenatal diagnosis of spinocerebellar ataxia type 3 by using fluorescent PCR
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Kim DJ, Park SY, Kim MJ, Lee MH, Shim SH, Ryu HM
- KMID: 1111651
- 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... -
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- Prenatal diagnosis of a de novo ring chromosome 11
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Park JY, Lee MH, Lee BY, Lee YW, Ryu HM, Park SY
- KMID: 1111650
- 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... -
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- AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III
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Ko JM, Kim GH, Yoo HW
- KMID: 1111649
- 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... -
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- Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization:Clinical experience with 309 cases
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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
- KMID: 1111648
- 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... -
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- A cost-benefit analysis on tandem mass spectrometry of inherited metabolic diseases in Korea
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Ryu HO, Lee DH, Choi TY, Yoon HR
- KMID: 1111647
- 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... -
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- Determination of plasma C16-C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease
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Yoon HR, Cho K, Yoo HW, Choi JH, Lee DH, Zhang K, Keutzer J
- KMID: 1111646
- 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... -
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- Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis
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Choi JH, Kim GH, Yoo HW
- KMID: 1111645
- 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,... -
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- Spinocerebellar ataxia 7 (SCA7)
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Jeong SY, Jang SH, Kim HJ
- KMID: 1111644
- 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... -
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- Hereditary cancer and genetic counseling
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Jeong SY
- KMID: 1111643
- 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... -
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- Genetic counselling in prenatal genetic testing
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Hwang D
- KMID: 1111642
- J Genet Med.
- 2007 Jun;4(1):6-14.
No abstract available. -
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- Genetic counseling in Korean health care system
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Kim HJ
- KMID: 1111641
- 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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