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Burned-Out Testicular Choriocarcinoma with Retroperitoneal and Liver Metastases

Kim WB, Lee SW, Yun JN

Spontaneous regression or the ‘burned-out’ phenomenon of testicular germ cell tumors is well-recognized but a rare clinical entity of which few reports exist. Tumors with the ‘burned-out’ phenomenon are found...
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Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

Lee CG, Yun JN, Park SJ, Sohn YB

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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Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently...
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Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

Ko JM, Kim JB, Pai KS, Yun JN, Park SJ

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome....
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Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB

PURPOSE: This study analyzed and evaluated the demographic, clinical, and cytogenetic data [G-banded karyotyping and array-based comparative genomic hybridization (array CGH)] of patients with unexplained developmental delay or intellectual disability...
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Pseudoceramide-Containing Physiological Lipid Mixture Reduces Adverse Effects of Topical Steroids

Kim HJ, Park HJ, Yun JN, Jeong SK, Ahn SK, Lee SH

PURPOSE: Various therapeutic approaches have been suggested for preventing or reducing the adverse effects of topical glucocorticoids, including skin barrier impairment. Previously, we have shown that impairment of skin barrier...
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