- Intrauterine growth restriction (IUGR) associated with confined placental mosaicism of ring chromsome 15
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Ryu HM
- KMID: 1538077
- J Genet Med.
- 1998 Mar;2(1):7-10.
The present report describes a case that showed a normal fetal karyotype in an antenatal genetic study but an abnormal placental karyotype of 46,XX,r(15) on postnatal examination. The pregnancy was... -
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- Association Analysis of a Polymorphism of the Angiotensin I-Converting Enzyme Gene and Angiotensin II Type 1 Receptor Gene in Korean Population
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Yang YM
- KMID: 1538081
- J Genet Med.
- 1998 Mar;2(1):27-30.
Previously, we made a study report on the genotype disturbution and the gene frequency of angiotensin I-converting enzyme (ACE) in Korean population, and on the association between hypertension and genetic... -
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- Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families
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Choi SK
- KMID: 1538080
- J Genet Med.
- 1998 Mar;2(1):23-26.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and... -
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- Analysis of haplotype and coamplification PCR of dystrophin gene and Y-specific gene using PEP-PCR in single fetal cells
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Choi SK
- KMID: 1538083
- J Genet Med.
- 1998 Mar;2(1):35-40.
Duchenne and Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation sex determination has been generally used to avoid pregnancies with these diseases. However, in order... -
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- Frequent Biallelic Expression of Insulin-like Growth Factor II (IGF2) in Gynogenetic Ovarian Teratomas: Uncoupling of H19 and IGF2 Imprinting
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Chang SI
- KMID: 1538084
- J Genet Med.
- 1998 Mar;2(1):41-48.
Human uniparental gestations such as gynogenetic ovarian teratomas provide a model to evaluate the integrity of parent-specific gene expression - i.e. imprinting - in the absence of a complementary parental... -
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- Molecular characterization and Prenatal Molecular Evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome
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Yoo HW, Kim GH
- KMID: 1538079
- J Genet Med.
- 1998 Mar;2(1):17-22.
The Lesch-Nyhan syndrome which is caused by the deficiency of hypoxanthine guanine phosphoribosyltransferase is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, mental retardation and compulsive self-injurious behavior. Clinical management... -
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- Molecular and Cytogenetic Findings in 46,XX Males
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Choi SK
- KMID: 1538078
- J Genet Med.
- 1998 Mar;2(1):11-16.
This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic... -
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- Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination
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Goswami HK
- KMID: 1538076
- J Genet Med.
- 1998 Mar;2(1):1-6.
A female hemihypertrophy patient with hypomelanosis of Ito is presented as a rare case combining classical features of both the syndrome. Chromosomal profile has been based on longitudinal study of... -
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- Tissue-specific Expression of DNA Repair Gene, N-Methylpurine-DNA Glycosylase (MPG) in Balb/c Mice without External Damage
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Kim NK
- KMID: 1538082
- J Genet Med.
- 1998 Mar;2(1):31-34.
The N-methylpurine-DNA glycosylase (MPG), a ubiquitous DNA repair enzyme, removes N-methylpurine and other damaged purines induced in DNA. Tissue-specific mRNA levels of the N-methylpurine-DNA glycosylase (MPG) were investigated in Balb/c... -
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