- Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities
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Hong SY
- KMID: 2184493
- J Genet Med.
- 2014 Dec;11(2):49-55.
- doi: 10.5734/JGM.2014.11.2.49
Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic... -
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- Chorionic villus sampling
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Shim SS
- KMID: 2184492
- J Genet Med.
- 2014 Dec;11(2):43-48.
- doi: 10.5734/JGM.2014.11.2.43
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective... -
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- Correction to: Clinical characterization of a Korean case with 3p25 deletion
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Lee HJ, Kim JH, Cho JH, Choi JH, Yoo HW
- KMID: 2184501
- J Genet Med.
- 2014 Dec;11(2):91-91.
- doi: 10.5734/JGM.2014.11.2.91
This correction is being published to correct the authors' names. -
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- A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease
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Lee D, Kim JH, Cho JH, Oh MY, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 2184498
- J Genet Med.
- 2014 Dec;11(2):79-82.
- doi: 10.5734/JGM.2014.11.2.79
Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or... -
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- Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population
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Kim H, Lim HS, Ryu JS, Kim HC, Lee S, Kim YT, Kim YJ, Lee KR, Park HJ, Han SH
- KMID: 2184495
- J Genet Med.
- 2014 Dec;11(2):63-68.
- doi: 10.5734/JGM.2014.11.2.63
PURPOSE: The mutation of the SLC26A4 gene is the second most common cause of congenital hearing loss after GJB2 mutations. It has been identified as a major cause of autosomal... -
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- Marfan syndrome and symptomatic dural ectasia: A case report and literature review
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Eom SN, Kim DC, Kim KN, Kim SH
- KMID: 2184499
- J Genet Med.
- 2014 Dec;11(2):83-85.
- doi: 10.5734/JGM.2014.11.2.83
Dural ectasia refers to the widening or ballooning of the dural sac surrounding the spinal cord. It can affect any plane of the spinal canal, but occurs primarily in the... -
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- A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve
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Cho WI, Ko JM, Kang HG, Ha IS, Cheong HI
- KMID: 2184497
- J Genet Med.
- 2014 Dec;11(2):74-78.
- doi: 10.5734/JGM.2014.11.2.74
Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from... -
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- Distribution of five common subtypes of spinocerebellar ataxia in the Korean population
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Choi IH, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2184496
- J Genet Med.
- 2014 Dec;11(2):69-73.
- doi: 10.5734/JGM.2014.11.2.69
PURPOSE: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more... -
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- A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea
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Oh MY, Kim JS, Kim JH, Cho JH, Lee BH, Kim GH, Choi JH, Yoo HW
- KMID: 2184500
- J Genet Med.
- 2014 Dec;11(2):86-90.
- doi: 10.5734/JGM.2014.11.2.86
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations,... -
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- Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II sonography
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Park JE, Park JK, Cho IA, Baek JC, Kang MY, Lee JI, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY
- KMID: 2184494
- J Genet Med.
- 2014 Dec;11(2):56-62.
- doi: 10.5734/JGM.2014.11.2.56
PURPOSE: To assess the outcomes of increased fetal nuchal translucency (NT), to aid in prenatal counseling and management in our practice. MATERIALS AND METHODS: We retrospectively reviewed the medical records of... -
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