- Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation
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Lee S, Lee D, Jeong H, Kim K, Hwang D
- KMID: 2184450
- J Genet Med.
- 2008 Jun;5(1):65-68.
Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe... -
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- Pseudoisodicentric X chromosome in a female with primary amenorrhea
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Park SH, Shim SH, Chin MU, Kang SJ, Bae SM, Sohn SM, Cha DH, Yoon TK, Cho JH
- KMID: 2184449
- J Genet Med.
- 2008 Jun;5(1):61-64.
A 24-year-old female with primary amenorrhea was referred for a chromosome study. The karyotype of the patient was 46,X,der(X) under initial GTG-banding analysis. Fluorescence in situ hybridization (FISH) analysis with... -
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- Karyotype analysis of cryopreserved mononuclear cells from cord blood
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Ku KY, Chu MA, Kim JY, Lee KS
- KMID: 2184448
- J Genet Med.
- 2008 Jun;5(1):55-60.
PURPOSE: The ability to perform chromosome analysis of cryopreserved cord blood mononuclear cells is important for future retrospective studies. We compared the karyotypes of cryopreserved cells with cells before cryopreservation. METHODS:... -
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- Rapid prenatal diagnosis of chromosome aneuploidies in 943 uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH)
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Han SH, Kang JS, An JW, Lee A, Yang YH, Lee KP, Lee KR
- KMID: 2184447
- J Genet Med.
- 2008 Jun;5(1):47-54.
PURPOSE: Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells offers the opportunity for rapid screening of aneuploidies and has become an integral part of the current practice in... -
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- Molecular diagnosis of fragile X syndrome in a female child
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Jeong SY, Yang JA, Kim HJ
- KMID: 2184446
- J Genet Med.
- 2008 Jun;5(1):41-46.
PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5'... -
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- No association between endothelin-1 gene polymorphisms and preeclampsia in Korean population
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Kim SY, Park SY, Lim JH, Yang JH, Kim MY, Park HY, Lee KS, Ryu HM
- KMID: 2184445
- J Genet Med.
- 2008 Jun;5(1):34-40.
PURPOSE: Preeclampsia is a major cause of maternal and perinatal mortality and morbidity and is considered to be a multifactorial disorder involving a genetic predisposition and environmental factors. Endothelin-1 (ET-1)... -
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- The Study of DNA Mutations of Phenylketonuria in Koreans
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Yoo SJ, Hong YH, Lee YW, Jung SC, Ki CS, Lee DH
- KMID: 2184444
- J Genet Med.
- 2008 Jun;5(1):26-33.
PURPOSE: Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the... -
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- Seven-year experience with inherited metabolic disorders screening by tandem mass spectrometry
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Song SM, Yoon HR, Lee A, Lee KR
- KMID: 2184443
- J Genet Med.
- 2008 Jun;5(1):21-25.
PURPOSE: In recent years, many countries have adopted newborn screening programs that use tandem mass spectrometry (MS/MS) to screen and the number of diseases screened has also increased. We began... -
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- Diagnostic testing for Duchenne/Becker Muscular dystrophy using Dual Priming Oligonucleotide (DPO) system
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Kim JH, Kim GH, Lee JJ, Lee DH, Kim JK, Yoo HW
- KMID: 2184442
- J Genet Med.
- 2008 Jun;5(1):15-20.
PURPOSE: Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise... -
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- The recent trend of prenatal screening
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Hwang D
- KMID: 2184441
- J Genet Med.
- 2008 Jun;5(1):7-14.
Twenty years have passed since a prenatal screening for Down syndrome and neural tube defect was applied to obstetric field. The Quad test (AFP, hCG, uE3, Inhibin-A) of the second... -
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- The developmental biology of birth defect
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Hong YH, Lee DH
- KMID: 2184440
- J Genet Med.
- 2008 Jun;5(1):1-6.
Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician... -
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