- Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases
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Kwak DW, Kim HJ, Park SY, Ahn HS, Chae YH, Kim MY, Lee YH, Ryu HM
- KMID: 2055577
- J Genet Med.
- 2013 Jun;10(1):38-42.
- doi: 10.5734/JGM.2013.10.1.38
PURPOSE: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to... -
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- Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation
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Yoon CK, Yu HG
- KMID: 2055573
- J Genet Med.
- 2013 Jun;10(1):13-19.
- doi: 10.5734/JGM.2013.10.1.13
Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by... -
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- An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
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Shin SJ, Kim JH, Kim YM, Kim GH, Lee BH, Yoo HW
- KMID: 2055578
- J Genet Med.
- 2013 Jun;10(1):43-46.
- doi: 10.5734/JGM.2013.10.1.43
Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused... -
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- Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report
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Lee YJ, Yum MS, Kim EH, Choi HW, Lee BH, Yoo HW, Ko TS
- KMID: 2055579
- J Genet Med.
- 2013 Jun;10(1):47-51.
- doi: 10.5734/JGM.2013.10.1.47
Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a... -
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- Southern Analysis after Long-range PCR: Clinical Application in Korean Patients with Myotonic Dystrophy 1
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Yum MS, Lee BH, Kim GH, Lee JJ, Choi SH, Lee JY, Kim JM, Kim YM, Ko TS, Yoo HW
- KMID: 2055576
- J Genet Med.
- 2013 Jun;10(1):33-37.
- doi: 10.5734/JGM.2013.10.1.33
PURPOSE: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of... -
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- Bioinformatics Approaches for the Identification and Annotation of RNA Editing Sites
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Lee SY, Kim JH
- KMID: 2055575
- J Genet Med.
- 2013 Jun;10(1):27-32.
- doi: 10.5734/JGM.2013.10.1.27
Post-transcriptional nucleotide sequence modification of transcripts by RNA editing is an important molecular mechanism in the regulation of protein function and is associated with a variety of human disease phenotypes.... -
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- Genetics of Mitochondrial Myopathies
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Shin JH, Kim DS
- KMID: 2055574
- J Genet Med.
- 2013 Jun;10(1):20-26.
- doi: 10.5734/JGM.2013.10.1.20
Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with... -
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- Acromegaloid Facial Appearance Syndrome: A New Case in India
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Rai A, Sattur AP, Naikmasur
- KMID: 2055581
- J Genet Med.
- 2013 Jun;10(1):57-61.
- doi: 10.5734/JGM.2013.10.1.57
Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies,... -
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- Familial Juvenile Hyperuricemic Nephropathy and Uromodulin Gene Mutation
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Lee YK, Lee DH, Noh JW
- KMID: 2055572
- J Genet Med.
- 2013 Jun;10(1):7-12.
- doi: 10.5734/JGM.2013.10.1.7
Familial Juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disorder, characterized by early onset of hyperuricemia, gout and progressive kidney disease. Hyperuricemia prior to renal impairment and decreased fractional... -
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- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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Lee CG, Yun JN, Park SJ, Sohn YB
- KMID: 2055580
- J Genet Med.
- 2013 Jun;10(1):52-56.
- doi: 10.5734/JGM.2013.10.1.52
Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method... -
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- Chronic Granulomatous Disease on Jeju Island, Korea
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Cho M, Shin KS
- KMID: 2055571
- J Genet Med.
- 2013 Jun;10(1):1-6.
- doi: 10.5734/JGM.2013.10.1.1
Chronic granulomatous disease (CGD) is a rare inherited disorder of a defective NADPH oxidase enzyme, resulting in very low or no production of superoxide and subsequent reactive oxygen species. Consequently,... -
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