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9 results

One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer

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

  • 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...
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

  • 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...
A Case of Dihydropteridine Reductase Deficiency

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

  • 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...
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

  • 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...
Two Patients with Atypical Infantile Pompe Disease Presenting with Hypertrophic Cardiomyopathy

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

  • 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...
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

  • 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...
MLPA Applications in Genetic Testing

Kim GH, Lee BH, Yoo HW

  • 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...
Preimplantation Genetic Diagnosis for Single Gene Disorders

Lee HS, Kim MJ, Kang IS

  • 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...
Genetic Polymorphisms in Patients with Endometriosis in the Korean Population

Lee GH, Choi YM

  • 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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