- A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)
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An GH, Kim MY, Kim MH, Kim YY, Choi KH, Kwak DW, Park SY, Lee BY, Park JY, Ryu HM
- KMID: 1428903
- 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... -
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- A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation
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Lee BH, Kim YM, Kim GH, Kim YH, Yoo HW
- KMID: 1428902
- 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... -
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- A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
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Min HW, Koo KY, Lee CH, Yang JY, Lee JS
- KMID: 1428901
- 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... -
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- A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene
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Ko JM, Hah JH, Kim SW, Cho TJ, Kim GH, Yoo HW
- KMID: 1428900
- 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... -
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- Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1
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Sohn YB, An YS, Lee SJ, Choi JW, Jeong SY, Kim HJ, Ko JM
- KMID: 1428899
- 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)... -
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- Maternal Plasma Hepatocyte Growth Factor Concentrations in Women Who Subsequently Developed Preeclampsia
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Kim SY, Park SY, Kim MJ, Kim MY, Choi KH, Kwak DW, Han YJ, Ryu HM
- KMID: 1428898
- 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:... -
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- Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea
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Han SH, Heo YA, Yang YH, Kim YJ, Cho HI, Lee KR
- KMID: 1428897
- 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... -
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- Modeling of Human Genetic Diseases Via Cellular Reprogramming
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Kang MY, Suh JH, Han YM
- KMID: 1428896
- 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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