- Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1
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Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ
- KMID: 2286343
- J Breast Cancer.
- 2015 Mar;18(1):97-100.
- doi: 10.4048/jbc.2015.18.1.97
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it... -
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- Malignant Metachronous Cancers (Breast Cancer, Small Bowel Leiomyosarcoma) Associated with Von Recklinghausen Disease (NF 1)
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Kim BG, Kim JJ, Cho JS, Park UC
- KMID: 2145335
- J Korean Surg Soc.
- 1999 Feb;56(2):300-305.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that occurs once in 3,000 live births. Patients with NF1 are prone to develop malignancies, particularly neural tumors, that is, malignant... -
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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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- 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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- Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1
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Lee KK, Kim HB, Heo MH, Kim JY, Do YR, Park KU, Song HS
- KMID: 2267780
- Korean J Med.
- 2013 Nov;85(5):535-539.
Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene,... -
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- Mutation of the NF1 Gene and the Associated Clinical Features in Family Members with Neurofibromatosis Type 1
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Jeong Y, Seo Y, Choi K, Han Y, Kim ES, Moon SD, Han JH
- KMID: 2163243
- Korean J Med.
- 2016 May;90(5):455-459.
- doi: 10.3904/kjm.2016.90.5.455
With an incidence of 1 per 2,500-3,000 individuals, neurofibromatosis type 1 (NF1) is the most common autosomal dominant disorder in humans. NF1 is caused by germline mutations of the NF1... -
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- Neurofibromatosis type 1: a single center's experience in Korea
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Kim MJ, Cheon CK
- KMID: 1727496
- Korean J Pediatr.
- 2014 Sep;57(9):410-415.
- doi: 10.3345/kjp.2014.57.9.410
PURPOSE: Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The... -
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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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- 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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- Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1
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Sohn YB, An YS, Lee SJ, Choi JW, Jeong SY, Kim HJ, Ko JM
- KMID: 1428899
- J Genet Med.
- 2012 Dec;9(2):84-88.
- doi: 10.5734/JGM.2012.9.2.84
PURPOSE: Neurofibromatosis type 1 (NF1), which is caused by mutations of the NF1 gene, is the most frequent single gene disorder to affect the nervous system. Unidentified bright objects (UBOs)... -
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