- Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly
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Jeong MH, Ko JM, Kim GH, Yoo HW
- KMID: 2288524
- J Genet Med.
- 2007 Dec;4(2):200-203.
Niemann-Pick type C is an inborn error of metabolism that affects lipid degradation and storage, which is characterized by hepatosplenomegaly and progressive neurological symptoms. A 7-month-old girl with jaundice was... -
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- A case of Coffin-Lowry syndrome
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Shin JE, Seo ES, Lee DH
- KMID: 2288523
- J Genet Med.
- 2007 Dec;4(2):196-199.
Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our... -
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- Rapid detection of aneuploidy using FISH in uncultured amniocytes for prenatal diagnosis : 8-year experience
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Hwang D, Lee DS, Choe J, Choi HS, Min J, Lee S, Kim KC
- KMID: 2288522
- J Genet Med.
- 2007 Dec;4(2):190-195.
PURPOSE: FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our... -
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- Controversial issues in the legal restriction for prenatal genetic testing in Korea
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Choi J, Jeong SY, Kim HJ
- KMID: 2288521
- J Genet Med.
- 2007 Dec;4(2):186-189.
More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing.... -
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- Effect of immobilization stress on the expression of TH, BDH and CRH gene in rat brain
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Qian YR, Kim YS
- KMID: 2288520
- J Genet Med.
- 2007 Dec;4(2):179-185.
PURPOSE: Catecholamines are the neuro-transmitters in the sympathetic nervous system (SNS) and are activated by stress stimulus. Tyrosine hydroxylase (TH) and Dopamine-beta-Hydroxylase (DBH) are very important enzymes in the catecholamine... -
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- National survey for genetic counseling and demands for professional genetic counselor
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Chung YS, Kim SR, Choi J, Kim HJ
- KMID: 2288519
- J Genet Med.
- 2007 Dec;4(2):167-178.
PURPOSE: The necessity of professional non-MD genetic counselor has been recently emphasized in a medical field. By conducting a national survey on the demands for generic counseling and professional non-MD... -
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- The association between polymorphisms of beta-adrenoceptors and preeclampsia
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Lim JH, Kim SY, Park SY, Yang JH, Han JY, Hong DS, Choi JS, Choi KH, Ryu HM
- KMID: 2288518
- J Genet Med.
- 2007 Dec;4(2):160-166.
PURPOSE: The beta-adrenoceptors are pharmacologically classified into beta1-, beta2- and beta3-adrenoceptor. The gene of each subtype has polymorphisms related to their function (beta1-adrenoceptor: Ser49Gly, beta2- adrenoceptor: Gln27Glu, beta3-adrenoceptor: Trp64Arg). The... -
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- Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea
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Yoo HW, Hwang D, Ryu HM, Lee HJ, Kim HJ
- KMID: 2288517
- J Genet Med.
- 2007 Dec;4(2):142-159.
PURPOSE: This study was undertaken to provide prerequisites for accreditation of medical genetics training program and certification process for medical genetics professionals as clinical specialist and set up guidelines on... -
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- The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome
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Park SJ, Kim SR, Baek KN, Yoon JN, Jeong EJ, Kown JE, Kim HJ
- KMID: 2288516
- J Genet Med.
- 2007 Dec;4(2):133-141.
PURPOSE: Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental... -
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- A study on association of progesterone receptor gene polymorphism (PROGINS) with Endometriosis
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Kim YJ, Noh JH, Koh JW, Kim YB
- KMID: 2288515
- J Genet Med.
- 2007 Dec;4(2):128-132.
PURPOSE: Endometriosis is a steroid dependent disease with a particular genetic background but the location of possible genomic aberrations are still poorly clarified. This study was designed to investigate the... -
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- DNA testing in inherited neuromuscular disorders: a case-based approach and quality assurance
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Yoo HW
- KMID: 2288514
- J Genet Med.
- 2007 Dec;4(2):122-127.
No abstract available. -
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- DNA diagnostic testing in hereditary motor and sensory neuropathies
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Choi BO
- KMID: 2288513
- J Genet Med.
- 2007 Dec;4(2):115-121.
Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most... -
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