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A Case of Vitiligo Coexistent with Neurofibromatosis Type 1

Jung HJ, Youn HJ, Roh NK, Lee YW, Choe YB, Ahn KJ

  • KMID: 2245857
  • Korean J Dermatol.
  • 2015 Sep;53(8):656-658.
No abstract available.
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A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma

Yang EH, Kim YM, Kim KJ, Cha SH, Kwak MJ

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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Pulmonary Hypertension in Neurofibromatosis Type 1: A Case Report

Na SJ, Lee HY, Kim HS, Seong HJ, Jeon BS, Jeon HK

  • KMID: 2267777
  • Korean J Med.
  • 2013 Nov;85(5):521-525.
Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au...
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A Case Report of Precocious Puberty in Children Associated with Hypothalamic Hamartoma in Neurofibromatosis Type 1

Lee SA, Kim JH, Kim SJ

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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Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ

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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A Case of Neurofibromatosis Type 1 with Cortical Dysplasia

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

Cheng H, Shan M, Feng C, Wang X

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

Park KC, Choi HO, Han WS, Hwang JH, Kim KH, Chung JH, Eun HC

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

Yi HS, Kim SH, Kim J, Bae EJ, Hong S, Park IB, Kim YJ, Lee S

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

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

Jeong SY, Park SJ, Kim HJ

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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