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8 results

A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)

An GH, Kim MY, Kim MH, Kim YY, Choi KH, Kwak DW, Park SY, Lee BY, Park JY, Ryu HM

  • J Genet Med.
  • 2012 Dec;9(2):101-103.
  • doi: 10.5734/JGM.2012.9.2.101
Paracentric inversion of chromosome 18 is a rare cytogenetic abnormality. The vast majority of paracentric inversions are harmless and the offspring of paracentric inversion carriers have only slightly elevated risks...
A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

Lee BH, Kim YM, Kim GH, Kim YH, Yoo HW

  • J Genet Med.
  • 2012 Dec;9(2):98-100.
  • doi: 10.5734/JGM.2012.9.2.98
Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving...
A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

Min HW, Koo KY, Lee CH, Yang JY, Lee JS

  • J Genet Med.
  • 2012 Dec;9(2):93-97.
  • doi: 10.5734/JGM.2012.9.2.93
Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome...
A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Ko JM, Hah JH, Kim SW, Cho TJ, Kim GH, Yoo HW

  • J Genet Med.
  • 2012 Dec;9(2):89-92.
  • doi: 10.5734/JGM.2012.9.2.89
Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are...
Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1

Sohn YB, An YS, Lee SJ, Choi JW, Jeong SY, Kim HJ, Ko JM

  • J Genet Med.
  • 2012 Dec;9(2):84-88.
  • doi: 10.5734/JGM.2012.9.2.84
PURPOSE: Neurofibromatosis type 1 (NF1), which is caused by mutations of the NF1 gene, is the most frequent single gene disorder to affect the nervous system. Unidentified bright objects (UBOs)...
Maternal Plasma Hepatocyte Growth Factor Concentrations in Women Who Subsequently Developed Preeclampsia

Kim SY, Park SY, Kim MJ, Kim MY, Choi KH, Kwak DW, Han YJ, Ryu HM

  • J Genet Med.
  • 2012 Dec;9(2):78-83.
  • doi: 10.5734/JGM.2012.9.2.78
PURPOSE: The aim of this nested case-control study was to investigate the association between hepatocyte growth factor (HGF) concentrations in maternal plasma and the risk of developing preeclampsia. MATERIALS AND METHODS:...
Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea

Han SH, Heo YA, Yang YH, Kim YJ, Cho HI, Lee KR

  • J Genet Med.
  • 2012 Dec;9(2):73-77.
  • doi: 10.5734/JGM.2012.9.2.73
PURPOSE: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but...
Modeling of Human Genetic Diseases Via Cellular Reprogramming

Kang MY, Suh JH, Han YM

  • J Genet Med.
  • 2012 Dec;9(2):67-72.
  • doi: 10.5734/JGM.2012.9.2.67
The generation of induced pluripotent stem cells (iPSCs) derived from patients' somatic cells provides a new paradigm for studying human genetic diseases. Human iPSCs which have similar properties of human...

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