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Multiple Trichoepitheliomas Identified in a Patient with Neurofibromatosis Type 1

Cho MY, Park SH, Roh MR

  • KMID: 2470229
  • Korean J Dermatol.
  • 2019 Dec;57(10):653-654.
No abstract available.
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Coincidence of Dermal Melanocyte Hamartoma and Becker's Nevus in a Patient with Neurofibromatosis Type 1

Kim YJ, Choi ME, Lee MW, Choi JH, Chang SE

  • KMID: 2470219
  • Korean J Dermatol.
  • 2019 Dec;57(10):632-634.
Dermal melanocytosis is characterized by an increased number of ovoid to elongated melanocytes situated between collagen fibers in the dermis, including blue nevus, Mongolian spots, nevus of Ota and Ito...
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Synchronous Gastrointestinal Stromal Tumor and Ampullary Neuroendocrine Tumor in Association with Neurofibromatosis Type 1: A Report of Three Cases

Park EK, Kim HJ, Lee YH, Koh YS, Hur YH, Cho CK

Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. The pathogenesis of NF1 is suggested to be an alteration of the NF-1 gene, which normally functions as a tumor...
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Superficial malignant peripheral nerve sheath tumor from recurrent neurofibroma in the abdominal wall of a patient without neurofibromatosis type 1

Jung CY, Bae JM, Choi JH, Jung KH

Malignant peripheral nerve sheath tumor (MPNST) is rare, accounting for 5-10% of all soft tissue sarcomas. MPNST is characteristically aggressive and has a poor prognosis. Fifty percent of patients with...
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Increased arterial stiffness causing resistant hypertension in an adolescent with Neurofibromatosis type 1

Cho MJ

Neurofibromatosis type 1 is an autosomal dominant genetic disorder characterized by the presence of café au lait spots, axillary and inguinal freckling, Lisch nodules, and neurofibromas. Hypertension is a relatively...
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Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test

Cohen R, Halevy A, Aharon S, Shuper A

BACKGROUND AND PURPOSE: The objective of this study was to determine if the MOXO visual- and vocal-distractors-based continuous performance test distinguishes patients with attention deficit hyperactivity disorder (ADHD) and neurofibromatosis...
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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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Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review

Kim DH, Lee JS, Shin JW, Kim JA, Jun YJ

Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults. It typically originates on the skin, later affecting...
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A novel neurofibromatosis type 1 (NF1) mutation in a patient with NF1 and pheochromocytoma

Seo Y, Jeong Y, Kim DY, Choi K, Kim ES, Moon SD, Han JH

No abstract available.
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Outcomes of Treatment for Malignant Peripheral Nerve Sheath Tumors: Different Clinical Features Associated with Neurofibromatosis Type 1

Hwang IK, Hahn SM, Kim HS, Kim SK, Kim HS, Shin KH, Suh CO, Lyu CJ, Han JW

PURPOSE: Malignant peripheral nerve sheath tumors (MPNSTs) are a rare subtype of sarcoma that occur spontaneously or in association with neurofibromatosis type 1 (NF-1). This study aimed to clinically differentiate...
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A Case of Malignant Peripheral Nerve Sheath Tumor with Neurofibromatosis Type 1

Choi SK, Kim CK, Kim SH, Jo DI

The malignant peripheral nerve sheath tumor (MPNST) originates from neurofibromatosis type 1 (NF1). Because NF1 patients have many accompaniments with growth of additional masses, they usually overlook potential malignant changes...
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A Case of Spontaneous Hemothorax in a Patient with Neurofibromatosis Type I

Cho NS, Sun KH, Seo HJ

Neurofibromatosis type I (NF1) is a genetic disorder associated with the central nervous system and cutaneous manifestations. Complications involving the vascular system, such as arterial rupture and occlusion, are rare....
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Pulmonary Hypertension in Patient with Neurofibromatosis Type 1

Lee YM, Yang TH, Jung H, Oh TS, Song JH, Yu SJ

Neurofibromatosis type 1 (NF1) is a rare genetic disease. Precapillary pulmonary hypertension (PH) with NF1 is an extremely severe complication. A 65-year-old woman was admitted in our hospital with 3-year...
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Mutation of the NF1 Gene and the Associated Clinical Features in Family Members with Neurofibromatosis Type 1

Jeong Y, Seo Y, Choi K, Han Y, Kim ES, Moon SD, Han JH

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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Three Types of Cancer in a Patient with Neurofibromatosis Type I: Gastrointestinal Stromal Tumor, Breast and Ampulla of Vater Cancer

Kim H, Cho JY, Hwang C, Yang S, Chun Y, Choi S, Choi S

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a prevalence of approximately 1 in 3,500 live births. NF-1 predisposes to various benign and malignant neoplasms. Neurological malignancies are...
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Spontaneous Extracranial Vertebral Artery Dissection in a Neurofibromatosis 1 Patient with Bilateral Intrathoracic Spinal Meningoceles around the Scoliosis: Report of an Autopsy Case

Park JH, Park J

Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder that causes several systemic diseases. Many studies have reported that NF1 is associated with intrathoracic meningoceles and scoliosis. The incidence of...
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Neurofibroma of the Breast Detected on Positron Emission Tomography-CT in a Patient with Neurofibromatosis Type 1: A Case Report

Lee H, Kim HJ, Yang B, Lee SM, Jeong JY

Neurofibromas of the breast are rare. They are commonly found as solitary lesions or parts of neurofibromatosis type 1 and are usually located on the nipple-areolar area. We describe a...
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Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient

Malla HP, Park BJ, Koh JS, Jo DJ

Intrathoracic meningoceles are relatively rare entities found in patients with neurofibromatosis type I (NF1). Given that both the BRCA1 and NF-1 genes are located on the same long arm of...
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Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1

Kang Y, Choi JW, Kim Y, Oh HE, Lee JH, Kim YS

No abstract available.
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Multiple Ruptured Cerebral Aneurysms as a Presenting Feature of Pheochromocytoma in a Patient with Neurofibromatosis 1

Kwon MK, Kim DH, Choi SJ, Lee HY

Neurofibromatosis 1 (NF-1) shows an autosomal dominant pattern of inheritance with complete penetrance and variable expression. Vascular abnormalities are frequently associated with NF-1. Pheochromocytoma occurs in 0.1-5.7% of patients with...
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