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11 results

Molecular Profiling of Human Gliomas by cDNA Expression Array

Zhang W, Chenchik A, Chen S, Siebert P, Rhee CH

  • J Genet Med.
  • 1997 Sep;1(1):57-59.
Extensive research in this decade has led to detailed understanding of genetic changes underlying human cancers. Two major tumorigenic events are mutation and amplification of oncogenes and inactivation of tumor...
A study on the patterns of expression of the DAZ and HSP genes in the testicular tissue of men with azospermia

Lee HJ, Lee HS, Song GJ, Byun HK, Cho YH, Kim JH, Seo JT, Lee YS

  • J Genet Med.
  • 1997 Sep;1(1):51-56.
In order to examine whether microdeletions on the Y chromosome exist or not and observe the aspects of expression of DAZ which is suggested to be essential in spermatogenesis in...
Construction and Analysis of Painting Probe for Homogeneously Staining Regions in Human Neuroblastoma Cell line IMR-32

Park SH, Kim HC, Chun YH

  • J Genet Med.
  • 1997 Sep;1(1):45-50.
Painting probe for HSRs in IMR-32 Neuroblastoma, a pediatric malignant neoplasm of neural crest origin, has a wide range of clinical virulence. The mechanisms contributing to the development of neuroblastomas...
Mutation Analyses in Korean patients with MELAS (Mitochondrial Encephalomyopathy, Lactic acidosis, and Stroke like episodes)

Yoo HW, Kim GH, Ko TS

  • J Genet Med.
  • 1997 Sep;1(1):39-44.
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is inherited maternally, in which the MTTL1*MELAS 3243 mutation has been most commonly found as a heteropla smy of A...
Molecular biological diagnosis of Spinal Muscular atrophy

Lee KS, Hwang HY, Lee KH, Park MS, Hahn SH, Hong CH

  • J Genet Med.
  • 1997 Sep;1(1):33-38.
Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease...
Duplication and deletion of 21 hydroxylase gene among the normal Korean subjects and in adrenogenital syndrome patients

Jin DK, Beck NS, Oh PS

  • J Genet Med.
  • 1997 Sep;1(1):27-32.
Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia(CAH) and is caused by genetic impairment (CYP21B) of this enzyme. In the human genome, CYP21B is located within...
The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population

Shim SH, Cho YH, Choi SK, Chung SR

  • J Genet Med.
  • 1997 Sep;1(1):23-26.
Myotonic dystrophy(DM) is caused by the expansion of CTG trinucleotide repeat near the 3' end of the gene encoding for a member of protein kinase gene family (DMPK). The normal...
Genotype Distribution and Gene Frequency of Angiotensin I-Converting Enzyme in Korean Population

Yang YM, Park JH, Moon ES

  • J Genet Med.
  • 1997 Sep;1(1):17-22.
BACKGROUND: The angiotensin converting enzyme(ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cadiovascular diseases. Deletion polymorphism in the ACE...
Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis)

Goswami HK, Shrivastava N, Gopal SK, Sharna S, Chandorkar M, Lee IH, Chang SK

  • J Genet Med.
  • 1997 Sep;1(1):11-16.
A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm...
Successful treatment of a child with citrullinemia

Lee KH, Park MS, Hahn SH

  • J Genet Med.
  • 1997 Sep;1(1):5-10.
The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or...
Nager Syndrome associated with 45,X Monosomy

Chung JH, Chi JG

  • J Genet Med.
  • 1997 Sep;1(1):1-4.
Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this...

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