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Pheochromocytoma Developed in a Boy with Multiple Endocrine Neoplasia Type 2A Confirmed by the RET Proto-Oncogene Mutation

Park SY, Jin MJ, Choi EM, Kang SJ, Choi JH, Shim YJ, Kim HS, Jung EY, Lee HJ, Choi MS, Kim HW

A 9-year-old boy presented with increased sweating and abdominal pain. His mother and uncle had been diagnosed with bilateral pheochromocytoma and medullary thyroid carcinoma. Magnetic resonance imaging of the boy's...
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A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation

Choi YS, Kwon HJ, Kim BK, Kwon SK, Park YH, Kim JH, Jung SB, Lee CH, Lee SK, Uchino S

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in...
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A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A

Lee YJ, Chon S, Lee SH, Lee TW, Ihm CG, Noh TJ, Oh S, Woo JT, Kim SW, Kim JW, Kim YS

Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominant disease that consists of medullary thyroid carcinoma (MTC), pheochromocytoma and parathyroid hyperplasia. The activation of germ-line mutations in the RET...
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A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism

Kang MK, Lee JM, Kim JH, Lee MY, Kim JH, Moon SD, Han JH, Chang SA

Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses...
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Medullary Thyroid Carcinoma: 25-year Experience and the Results of the RET Proto-oncogene Screening Test

Jeong JJ, Lee YS, Kang SW, Sung TY, Lee SC, Nam KH, Chang HS, Chung WY, Park CS

PURPOSE: Medullary thyroid carcinoma (MTC) is a rare thyroid tumor and its clinical course is quite variable. The aim of this study was to retrospectively analyze our clinical and laboratory...
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A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene

Yun SW, Yoo WS, Hong KH, Kim BH, Kang MH, Choo YK, Park HY, Kim DH, Chung HK, Chang MC, Kwon MS, Kim HJ

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. MEN2A arises due to germline missense mutations...
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Analysis of RET Gene Point Mutation in a Family with Multiple Endocrine Neoplasia Type 2A

Kim SW, Lee KD, Kim JY, Moon HS, Kim YR, Park YH, Lee KS

  • KMID: 2276772
  • Korean J Otolaryngol-Head Neck Surg.
  • 2007 Jun;50(6):529-536.
BACKGROUND AND OBJECTIVES: Multiple Endocrine Neoplasia type 2A (MEN 2A) is a syndrome that encompasses medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism. Since MEN 2A is inherited as autosomal dominant, early...
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A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Prophylactic Total Thyroidectomy

Kim BS, Rhie YJ, Koh H, Kim DH, Choi SH

  • KMID: 1510419
  • J Korean Soc Pediatr Endocrinol.
  • 2006 Jun;11(1):104-109.
Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal-dominant hereditary syndrome which includes medullary thyroid carcinoma (MTC), pheochoromocytoma, multiple ganglioneuromas, gastrointestinal disorders and marfanoid face. MTC is the...
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A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene

Kim NH, Kim JH, Nam JH, Park JP, Park JE, Choi YS, Park YH

  • KMID: 1833332
  • Korean J Med.
  • 2006 Apr;70(4):448-454.
Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as...
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A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene

Kim YK, Kim JW, Ahn SM, Song KE, Jung SH, Kim DJ, Chung YS, Lee KW, Kim CH, Hong JH, Jeong SY, Kim HJ

A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which...
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A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene

Kim HY, Lee JY, Kim SB, Lee KW, Seo JA, Oh JH, Kim SG, Choi KM, Baik SH, Choi DS, Kim NH

  • KMID: 2331186
  • J Korean Soc Endocrinol.
  • 2003 Oct;18(5):481-488.
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are...
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Analysis of Ret Proto-oncogene Mutation in Korean Patients with Medullary Thyroid Carcinomas

Kim HH, Kim HJ, Chung YJ, Min YK, Lee MS, Lee MK, Kim KW, Ki CS, Kim JW, Chung JH

  • KMID: 2200380
  • J Korean Soc Endocrinol.
  • 2003 Aug;18(4):360-370.
BACKGROUND: Medullary thyroid carcinomas (MTC) have been reported as hereditary in about 25 ~30% of cases. The identification of germline mutation in RET proto-oncogene is important in the diagnosis of...
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A Case of Multiple Endocrine Neoplasia Type 2B associated with a M918T Mutation in RET Proto-Oncogene

Kim TY, Hwang JK, Moon MK, Park YJ, Park DJ, Kim SY, Lee HK, Yoon YK, Cho BY

  • KMID: 2200144
  • J Korean Soc Endocrinol.
  • 2003 Feb;18(1):85-93.
A multiple endocrine neoplasia type 2B(MEN2B) is the most distinct and aggressive form of the MEN type 2 variants. We report a case of a 24-years-old woman with MEN2B. The...
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Early Detection of Medullary Thyroid Cancer by Screening of the RET Proto-oncogene Germ Line Point Mutation in Family Members Affected with Hereditary Medullary Thyroid Cancer

Kim SW, Kim TY, Park YJ, Kim WB, Shin CS, Park DJ, Park KS, Kim SY, Cho BY, Lee HK

  • KMID: 2331156
  • J Korean Soc Endocrinol.
  • 2001 Feb;16(1):54-64.
BACKGROUND: Conventional biochemical screening for family members with hereditary medullary thyroid cancer (MTC) is associated with problems of sensitivity and, specificity and it frequently detects gene carriers only after disease...
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