- Case Report
- Neurofibromatosis Type 1 with Cerebellar Piloytic Astrocytoma
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In-Sang Jeon, Jung Sun Kim, Ji Hye Kim, Na Rae Kim
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Clin Exp Pediatr. 2004;47(4):458-461. Published online April 15, 2004
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Neurofibromatosis type 1(NF1) is one of the most common inherited disorders, clinically characterized by caf -au-lait spots, Lisch nodules and neurofibromas. In addition, the affected individuals usually develop benign and malignant tumors of the nervous system. One of the most common tumors is the optic nerve glioma. NF1-associated glioma, however, rarely occurs in the cerebellum. Recently, we experienced a NF1-associated... |
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- Original Article
- Cell Proliferation and Apoptosis in Heart of Trisomy 16 in Mice
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Eun Jung Bae, Yong Soo Yun, Jung Sun Kim, Jeong-Wook Seo
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Clin Exp Pediatr. 1999;42(5):621-630. Published online May 15, 1999
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Purpose : Although abnormal developments of cushion and atrioventricular septum have been suggested, the exact mechanism for the development of atrioventricular septal defect is not well known. We aimed to identify the role of cell proliferation and apoptosis on cardiac morphogenesis in trisomy 16 mice(an animal model for Down's syndrome in human).
Methods : We examined the difference in cardiac... |
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- Clinical Stududy of CATCH 22
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Hye Soon Kim, Ho Sung Kim, Jung Il Rho, Jung Yeun Choi, Young Soo Yun, Jung Sun Kim, Jeong Wook Seo
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Clin Exp Pediatr. 1995;38(12):1603-1609. Published online December 15, 1995
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The recognition that deletion of 22ql1 is a common cause of varied malformations and clinical disorders took more than a decade to achieve. Deletions of chromosome 22ql1 have been seen in association with DiGeorge syndrome (DGS) and velo¡ⓒ cardio-facial syndrome (VCFS). The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggest an aetiological connection. CATCH 22 synd¡ⓒrome is characterized... |
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