- In Situ Culture and Harvest of Amniocytes using coverslip processing method
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Cheong KS, Hwang D, Lee DS, Cho SK, Kim KC, Min EG
- KMID: 1540018
- J Genet Med.
- 1998 Dec;2(2):79-81.
Genetic amniocenteses were performed in a series of 127 patients as a routine study. Samples from the patients were cultured by in situ method, flask method or both according to... -
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- DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea
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Hong SD, Lee S, Oh MR, Jin DK
- KMID: 1540019
- J Genet Med.
- 1998 Dec;2(2):83-86.
Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be... -
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- Comparative Genomic Hybridization Analysis of Fetal Chromosomal Aberrations
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Choi SK, Kim YM, Park SY, Kim JW, Ryu HM, Go CW, Park CT, Jun JY, Park IS
- KMID: 1540017
- J Genet Med.
- 1998 Dec;2(2):71-77.
Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method... -
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- The Frequency of Chromosomal Abnormalities and the Prenatal Cytogenetic Analyses for Couples with Recurrent Abortions
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Choi SK, Park SY, Han JY, Ryu HM, Jun JY
- KMID: 1540015
- J Genet Med.
- 1998 Dec;2(2):59-63.
Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study.... -
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- Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues
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Choi SK, Cho EH, Kim JW, Park SY, Kim YM, Ryu HM, Kang IS, Jun JY, Chi HG
- KMID: 1540014
- J Genet Med.
- 1998 Dec;2(2):53-57.
Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate... -
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- Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome
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Lee MH, Park SY, Ryu HM, Hong SR, Lee YH, Choi SK
- KMID: 1540013
- J Genet Med.
- 1998 Dec;2(2):49-51.
Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report,... -
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- Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea
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Hwang HS, Hwang JH, Kim HS, Kim NK, Kim SJ, Lee CC, Chung KW
- KMID: 1540016
- J Genet Med.
- 1998 Dec;2(2):65-70.
Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2... -
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