- Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry
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Cheon CK, Choi HS, Kim SY, Yoo HW, Kim GH
- KMID: 2055570
- J Genet Med.
- 2012 Jun;9(1):42-46.
- doi: 10.5734/JGM.2012.9.1.42
Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid beta-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay,... -
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- A Korean Family with Cholesterol Ester Transfer Protein Deficiency
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Youn SY, Shin IS, Hong YH, Lee DH
- KMID: 2055569
- J Genet Med.
- 2012 Jun;9(1):38-41.
- doi: 10.5734/JGM.2012.9.1.38
A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum... -
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- A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation
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Kim JH, Kim YM, Lee BH, Kim JH, Seo EJ, Yoo HW
- KMID: 2055568
- J Genet Med.
- 2012 Jun;9(1):35-37.
- doi: 10.5734/JGM.2012.9.1.35
Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating... -
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- A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
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Kim HJ, Lee BH, Kim YM, Kim GH, Kim OH, Yoo HW
- KMID: 2055567
- J Genet Med.
- 2012 Jun;9(1):31-34.
- doi: 10.5734/JGM.2012.9.1.31
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings... -
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- Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations
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Hong WS, Kim KS, Jung YS, Kang SY, Kang DK, Kim TH, Yim H, Chun M, Park MC, Chang SJ
- KMID: 2055566
- J Genet Med.
- 2012 Jun;9(1):25-30.
- doi: 10.5734/JGM.2012.9.1.25
Among the treatment options for BRCA mutation carriers, risk reducing surgery is the most effective. However, this procedure has been rarely performed in Korea. Interestingly, our case showed double heterozygosity... -
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- Fetal Loss Rate after Mid-trimester Amniocentesis
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Han YJ, Kim YY, Lee SW, Kim MH, Chung JH, Ahn HK, Han JY, Kim MY, Yang JH, Choi KH, Park SY, Ryu HM
- KMID: 2055565
- J Genet Med.
- 2012 Jun;9(1):22-24.
- doi: 10.5734/JGM.2012.9.1.22
PURPOSE: The aim of this study was to asses the fetal loss rate after mid-trimester amniocentesis. MATERIALS AND METHODS: This was a retrospective cohort study including singleton pregnant women who underwent... -
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- Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year update (2001-2010)
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An GH, Choi KH, Yang JH, Kim MY, Han JY, Park SY, Lee BY, Lee DE, Ryu HM
- KMID: 2055564
- J Genet Med.
- 2012 Jun;9(1):17-21.
- doi: 10.5734/JGM.2012.9.1.17
PURPOSE: The aim of this study was to analyze parental decisions regarding pregnancies in which the fetus had sex chromosome abnormalities (SCA) over a ten-year period. MATERIALS AND METHODS: We collected... -
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- Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis
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Kim SA, Kang MJ, Kim HS, Oh SK, Ku SY, Choi YM, Jun JK, Moon SY
- KMID: 2055563
- J Genet Med.
- 2012 Jun;9(1):11-16.
- doi: 10.5734/JGM.2012.9.1.11
PURPOSE: To determine a method to improve the efficacy and accuracy of preimplantation genetic diagnosis (PGD) - polymerase chain reaction (PCR), we compared hot start PCR and conventional multiplex nested... -
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- Hereditary Breast Cancer in Korea
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Kim SW
- KMID: 2055562
- J Genet Med.
- 2012 Jun;9(1):1-10.
- doi: 10.5734/JGM.2012.9.1.1
About 7% of all breast cancer (BC) cases result from a genetic predisposition, and approximately 1,000 patients develop hereditary BC (HBC) every year in Korea. BRCA1 and BRCA2 are the... -
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