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Genetic Polymorphisms in Patients with Endometriosis in the Korean Population

Lee GH, Choi YM

  • KMID: 1473816
  • J Genet Med.
  • 2009 Dec;6(2):121-130.
To analyze a wide variety of polymorphisms in patients with endometriosis is important since this disease has a strong genetic component. Until now, more than 30 Korean studies have been...
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MLPA Applications in Genetic Testing

Kim GH, Lee BH, Yoo HW

  • KMID: 1473818
  • J Genet Med.
  • 2009 Dec;6(2):146-154.
Multiplex ligation dependent probe amplification (MLPA) is a PCR-based method to detect gene dosage. Since its introduction, MLPA has been used to test a large number of genes for major...
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Preimplantation Genetic Diagnosis for Single Gene Disorders

Lee HS, Kim MJ, Kang IS

  • KMID: 1473817
  • J Genet Med.
  • 2009 Dec;6(2):131-145.
Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination...
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A Case of Dihydropteridine Reductase Deficiency

Oh SJ, Hong YH, Lee YW, Lee ST, Ki CS, Lee DH

  • KMID: 1473822
  • J Genet Med.
  • 2009 Dec;6(2):170-174.
Tetrahydrobiopterin (BH4) deficiency is caused by mutations in genes encoding enzymes involved in the synthesis and regeneration of BH4. The condition is usually accompanied by hyperphenylalaninemia (HPA) and deficiency of...
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Prenatal Diagnosis of the 22q11.2 Duplication Syndrome

Lee MH, Park SY, Lee BY, Choi EY, Kim JW, Park JY, Lee YW, Oh AR, Lee SY, Yang JH, Ryu HM

  • KMID: 1473823
  • J Genet Med.
  • 2009 Dec;6(2):175-178.
The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been...
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One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

Yim SH, Lee KH, Lee AW, Jung ES, Choi YJ

  • KMID: 1473825
  • J Genet Med.
  • 2009 Dec;6(2):179-182.
Germline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer. Among BRCA1- and BRCA2- mutation carriers, the average cumulative risks for ovarian cancer by age 70...
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Tumor Necrosis Factor-alpha Gene Polymorphism (C-850T) in Korean Patients with Preeclampsia

Lim JH, Kim SY, Park SY, Han HW, Yang JH, Kim MY, Park HY, Lee KS, Kim YJ, Ryu HM

  • KMID: 1473819
  • J Genet Med.
  • 2009 Dec;6(2):155-160.
PURPOSE: Preeclampsia is a multisystem human pregnancy-specific disorder. The pathophysiology of preeclampsia is linked with over-stimulation of inflammatory cytokines by placental ischemia via reduced uterine perfusion pressure during pregnancy. Although...
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A Floppy Baby with Congenital Myotonic Dystrophy Complicated with Huge Subgaleal Hematoma Occurring in Non-instrumental Vaginal Delivery

Yim SY, Cho KH, Kim JY, Hong JY, Lee IY

  • KMID: 1473821
  • J Genet Med.
  • 2009 Dec;6(2):166-169.
Not only is the concurrence of congenital myotonic dystrophy (CDM) and subgaleal hematoma (SGH) hardly ever seen but also the development of SGH during unassisted vaginal delivery is rare. We...
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Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy

Kim EH, Ko JM, Lee BH, Kim GH, Choi JH, Yoo HW

  • KMID: 1473820
  • J Genet Med.
  • 2009 Dec;6(2):161-165.
Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-alpha-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal...
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