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9 results

Frequent Biallelic Expression of Insulin-like Growth Factor II (IGF2) in Gynogenetic Ovarian Teratomas: Uncoupling of H19 and IGF2 Imprinting

Chang SI

  • 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...
Analysis of haplotype and coamplification PCR of dystrophin gene and Y-specific gene using PEP-PCR in single fetal cells

Choi SK

  • 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...
Tissue-specific Expression of DNA Repair Gene, N-Methylpurine-DNA Glycosylase (MPG) in Balb/c Mice without External Damage

Kim NK

  • 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...
Association Analysis of a Polymorphism of the Angiotensin I-Converting Enzyme Gene and Angiotensin II Type 1 Receptor Gene in Korean Population

Yang YM

  • 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...
Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families

Choi SK

  • 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...
Molecular characterization and Prenatal Molecular Evaluation of three fetuses in four unrelated Korean families with Lesch-Nyhan syndrome

Yoo HW, Kim GH

  • 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...
Molecular and Cytogenetic Findings in 46,XX Males

Choi SK

  • 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...
Intrauterine growth restriction (IUGR) associated with confined placental mosaicism of ring chromsome 15

Ryu HM

  • 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...
Hemihypertrophy with hypomelanosis of Ito: A new syndrome combination

Goswami HK

  • 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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