- A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma
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Yang EH, Kim YM, Kim KJ, Cha SH, Kwak MJ
- KMID: 2435231
- J Korean Child Neurol Soc.
- 2018 Sep;26(3):175-179.
- doi: 10.26815/jkcns.2018.26.3.175
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the... -
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- A Case Report of Precocious Puberty in Children Associated with Hypothalamic Hamartoma in Neurofibromatosis Type 1
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Lee SA, Kim JH, Kim SJ
- KMID: 2435274
- J Korean Child Neurol Soc.
- 2018 Mar;26(1):48-51.
- doi: 10.26815/jkcns.2018.26.1.48
Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein... -
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- A Case of Neurofibromatosis Type 1 with Cortical Dysplasia
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Lee JS, Kim SH, Kim HM, Park SY, Lee JH, Chae JH, Kim KJ, Hwang YS, Kim IO
- KMID: 2329330
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):276-281.
Neurofibromatosis type 1(NF1) is the most common neurocutaneous syndrome which has an autosomal dominant pattern of inheritance. The NF1 gene is located on chromosome 17q11.2 and encodes for neurofibromin known... -
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- Spinal Cord Ependymoma Associated with Neurofibromatosis 1 : Case Report and Review of the Literature
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Cheng H, Shan M, Feng C, Wang X
- KMID: 2191040
- J Korean Neurosurg Soc.
- 2014 Jan;55(1):43-47.
- doi: 10.3340/jkns.2014.55.1.43
Patients with neurofibromatosis 1 (NF1) are predisposed to develop central nervous system tumors, due to the loss of neurofibromin, an inactivator of proto-oncogene Ras. However, to our knowledge, only three... -
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- Mutations of the NF1 gene in Korean Neurofibromatosis type 1 patients
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Park KC, Choi HO, Han WS, Hwang JH, Kim KH, Chung JH, Eun HC
- KMID: 2163872
- Ann Dermatol.
- 2001 Jun;13(2):102-105.
- doi: 10.5021/ad.2001.13.2.102
BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence... -
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- Mutational Analysis of the NF1 Gene in Two Families with Neurofibromatosis 1 Accompanied by Pheochromocytoma
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Yi HS, Kim SH, Kim J, Bae EJ, Hong S, Park IB, Kim YJ, Lee S
- KMID: 1497727
- Endocrinol Metab.
- 2011 Jun;26(2):177-184.
- doi: 10.3803/EnM.2011.26.2.177
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant inherited disorders affecting the nervous system. NF1 is associated with mutations in the NF1 gene, which is located... -
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- Congestive heart failure due to an iatrogenic arteriovenous fistula in a patient with neurofibromatosis-1
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Choi ER, Lee SJ, Kim SM, Choi HJ, Ki CS, Choi YH, Kim DK
- KMID: 2258106
- Korean J Med.
- 2009 Aug;77(Suppl 1):S68-S72.
A 39-year-old woman, who 3 months prior had undergone sono-guided biopsy for pelvic masses, was admitted to our hospital with dyspnea. After the procedure, a large arteriovenous (AV) fistula was... -
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- The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1
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Jeong SY, Park SJ, Kim HJ
- KMID: 2157792
- J Korean Med Sci.
- 2006 Feb;21(1):107-112.
- doi: 10.3346/jkms.2006.21.1.107
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and... -
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