- One Korean Patient with a Family History of BRCA1-associated Ovarian Cancer
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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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- Prenatal Diagnosis of the 22q11.2 Duplication Syndrome
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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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- A Case of Dihydropteridine Reductase Deficiency
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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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- A Floppy Baby with Congenital Myotonic Dystrophy Complicated with Huge Subgaleal Hematoma Occurring in Non-instrumental Vaginal Delivery
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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
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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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- Tumor Necrosis Factor-alpha Gene Polymorphism (C-850T) in Korean Patients with Preeclampsia
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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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- MLPA Applications in Genetic Testing
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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
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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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- Genetic Polymorphisms in Patients with Endometriosis in the Korean Population
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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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