- Complete trisomy 14 mosaicism: first live-born case in Korea
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Hur YJ, Hwang T
- KMID: 2140716
- Korean J Pediatr.
- 2012 Oct;55(10):393-396.
- doi: 10.3345/kjp.2012.55.10.393
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the... -
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- Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy
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Kwon S, Seo HE, Hwang SK
- KMID: 2140714
- Korean J Pediatr.
- 2012 Oct;55(10):383-387.
- doi: 10.3345/kjp.2012.55.10.383
PURPOSE: Although benign rolandic epilepsy (BRE) is a benign condition, it may be associated with a spectrum of behavioral, psychiatric, and cognitive disorders. This study aimed to assess the cognitive... -
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- Renal scar formation after urinary tract infection in children
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Park YS
- KMID: 2140711
- Korean J Pediatr.
- 2012 Oct;55(10):367-370.
- doi: 10.3345/kjp.2012.55.10.367
Urinary tract infection (UTI) is a common bacterial illness in children. Acute pyelonephritis in children may lead to renal scarring with the risk of later hypertension, preeclampsia during pregnancy, proteinuria,... -
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- Enterovirus infection in Korean children and anti-enteroviral potential candidate agents
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Park KS, Choi YJ, Park JS
- KMID: 2140710
- Korean J Pediatr.
- 2012 Oct;55(10):359-366.
- doi: 10.3345/kjp.2012.55.10.359
Although most enterovirus infections are not serious enough to be life threatening, several enteroviruses such as enterovirus 71 are responsible for severe, potentially life-threatening disease. The epidemic patterns of enteroviruses... -
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- Clinical features and surgical outcomes of complete transposition of the great arteries
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Hong SJ, Choi HJ, Kim YH, Hyun MC, Lee SB, Cho JY
- KMID: 2140713
- Korean J Pediatr.
- 2012 Oct;55(10):377-382.
- doi: 10.3345/kjp.2012.55.10.377
PURPOSE: This single-center study aimed to assess the clinical features and surgical approaches and outcomes of complete transposition of the great arteries (TGA). METHODS: TGA patients who had undergone surgical correction... -
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- Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
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Lee E, Yum MS, Choi HW, Yoo HW, You SJ, Lee EH, Ko TS
- KMID: 2140717
- Korean J Pediatr.
- 2012 Oct;55(10):397-402.
- doi: 10.3345/kjp.2012.55.10.397
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1)... -
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- Puromycin aminonucleoside modulates p130Cas of podocytes
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Ha TS, Choi JY, Park HY
- KMID: 2140712
- Korean J Pediatr.
- 2012 Oct;55(10):371-376.
- doi: 10.3345/kjp.2012.55.10.371
PURPOSE: Puromycin aminonucleoside (PAN) specifically injures podocytes, leading to foot process effacement, actin cytoskeleton disorganization, and abnormal distribution of slit diaphragm proteins. p130Cas is a docking protein connecting F-actin fibers... -
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- LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
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Park SW, Lee ST, Sohn YB, Cho SY, Kim SH, Kim SJ, Kim CH, Ko AR, Paik KH, Kim JW, Jin DK
- KMID: 2140715
- Korean J Pediatr.
- 2012 Oct;55(10):388-392.
- doi: 10.3345/kjp.2012.55.10.388
PURPOSE: Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in... -
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