- A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
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Son YY, Lee B, Suh CR, Nam HK, Lee JH, Hong YS, Lee JW
- KMID: 2055591
- J Genet Med.
- 2015 Jun;12(1):57-60.
- doi: 10.5734/JGM.2015.12.1.57
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in... -
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- An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea
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Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Choi EY, Kim MY, Ryu HM, Park SY
- KMID: 2055590
- J Genet Med.
- 2015 Jun;12(1):49-56.
- doi: 10.5734/JGM.2015.12.1.49
We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid... -
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- Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
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Seo YJ, Lee KE, Ko JM, Kim GH, Yoo HW
- KMID: 2055589
- J Genet Med.
- 2015 Jun;12(1):44-48.
- doi: 10.5734/JGM.2015.12.1.44
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies,... -
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- Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17
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Kim GH, Chung SJ, Ryu HS, Kim J, Lee JJ, Choi SH, Lee J, Lee BH, Choi JH, Yoo HW
- KMID: 2055588
- J Genet Med.
- 2015 Jun;12(1):38-43.
- doi: 10.5734/JGM.2015.12.1.38
PURPOSE: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common... -
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- Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of stem cell markers and ingredients of induction medium
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Lim EH, Cho JA, Park H, Song TJ, Kim WY, Kim KH, Lee KW
- KMID: 2055587
- J Genet Med.
- 2015 Jun;12(1):31-37.
- doi: 10.5734/JGM.2015.12.1.31
PURPOSE: We investigated the neurogenic potentials of amniotic fluid-derived stem cells (AFSCs) according to the expression levels of stem cell markers and ingredients in the neural induction media. MATERIALS AND METHODS:... -
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- Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1
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Choi YR, Jung SC, Shin J, Yoo SY, Lee JS, Joo J, Lee J, Hong YB, Choi BO
- KMID: 2055586
- J Genet Med.
- 2015 Jun;12(1):25-30.
- doi: 10.5734/JGM.2015.12.1.25
PURPOSE: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative... -
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- Recent advances in genetic studies of stuttering
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Kang C
- KMID: 2055585
- J Genet Med.
- 2015 Jun;12(1):19-24.
- doi: 10.5734/JGM.2015.12.1.19
Speech and language are uniquely human-specific traits, which contributed to humans becoming the predominant species on earth. Disruptions in the human speech and language function may result in diverse disorders.... -
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- Molecular genetic decoding of malformations of cortical development
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Lim JS, Lee JH
- KMID: 2055584
- J Genet Med.
- 2015 Jun;12(1):12-18.
- doi: 10.5734/JGM.2015.12.1.12
Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified... -
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- Diagnostic approach for genetic causes of intellectual disability
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Yim SY
- KMID: 2055583
- J Genet Med.
- 2015 Jun;12(1):6-11.
- doi: 10.5734/JGM.2015.12.1.6
Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of... -
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- The role of de novo variants in complex and rare diseases pathogenesis
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Rahman M, Lee W, Choi M
- KMID: 2055582
- J Genet Med.
- 2015 Jun;12(1):1-5.
- doi: 10.5734/JGM.2015.12.1.1
De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the... -
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