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12 results

Molecular diagnosis of Niemann-Pick type C presenting with neonatal cholestasis and hepatosplenomegaly

Jeong MH, Ko JM, Kim GH, Yoo HW

  • 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...
A case of Coffin-Lowry syndrome

Shin JE, Seo ES, Lee DH

  • 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...
Rapid detection of aneuploidy using FISH in uncultured amniocytes for prenatal diagnosis : 8-year experience

Hwang D, Lee DS, Choe J, Choi HS, Min J, Lee S, Kim KC

  • 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...
Controversial issues in the legal restriction for prenatal genetic testing in Korea

Choi J, Jeong SY, Kim HJ

  • 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....
Effect of immobilization stress on the expression of TH, BDH and CRH gene in rat brain

Qian YR, Kim YS

  • 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...
National survey for genetic counseling and demands for professional genetic counselor

Chung YS, Kim SR, Choi J, Kim HJ

  • 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...
The association between polymorphisms of beta-adrenoceptors and preeclampsia

Lim JH, Kim SY, Park SY, Yang JH, Han JY, Hong DS, Choi JS, Choi KH, Ryu HM

  • 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...
Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea

Yoo HW, Hwang D, Ryu HM, Lee HJ, Kim HJ

  • 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...
The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome

Park SJ, Kim SR, Baek KN, Yoon JN, Jeong EJ, Kown JE, Kim HJ

  • 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...
A study on association of progesterone receptor gene polymorphism (PROGINS) with Endometriosis

Kim YJ, Noh JH, Koh JW, Kim YB

  • 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...
DNA testing in inherited neuromuscular disorders: a case-based approach and quality assurance

Yoo HW

  • J Genet Med.
  • 2007 Dec;4(2):122-127.
No abstract available.
DNA diagnostic testing in hereditary motor and sensory neuropathies

Choi BO

  • 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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