메뉴 건너뛰기




Volumn 20, Issue 1, 2012, Pages 128-

Clinical utility gene card for: Multiple endocrine neoplasia type 2

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; COST EFFECTIVENESS ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC SCREENING; HUNTER SYNDROME; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SEQUENCE ANALYSIS; DIFFERENTIAL DIAGNOSIS; FAMILIAL CANCER; GENETICS; GENOTYPE; HUMAN; METHODOLOGY; NEUROFIBROMATOSIS; POINT MUTATION; SENSITIVITY AND SPECIFICITY; SIPPLE SYNDROME; THYROID TUMOR;

EID: 83255185146     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.142     Document Type: Article
Times cited : (5)

References (16)
  • 1
    • 67749130797 scopus 로고    scopus 로고
    • Medullary thyroid cancer: Management guidelines of the American Thyroid Association
    • Kloos RT, Eng C, Evans DB et al: Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009; 19: 565-612.
    • (2009) Thyroid , vol.19 , pp. 565-612
    • Kloos, R.T.1    Eng, C.2    Evans, D.B.3
  • 2
    • 77952877804 scopus 로고    scopus 로고
    • Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC
    • Frank-Raue K, Rondot S, Raue F: Molecular genetics and phenomics of RET mutations: impact on prognosis of MTC. Mol Cell Endocrinol 2010; 322: 2-7.
    • (2010) Mol Cell Endocrinol , vol.322 , pp. 2-7
    • Frank-Raue, K.1    Rondot, S.2    Raue, F.3
  • 4
    • 33747080744 scopus 로고    scopus 로고
    • RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors
    • DOI 10.1210/er.2006-0017
    • de Groot JW, Links TP, Plukker JT, Lips CJ, Hofstra RM: RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev 2006; 27: 535-560. (Pubitemid 44213230)
    • (2006) Endocrine Reviews , vol.27 , Issue.5 , pp. 535-560
    • De Groot, J.W.B.1    Links, T.P.2    Plukker, J.T.M.3    Lips, C.J.M.4    Hofstra, R.M.W.5
  • 5
    • 77955364851 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 2 syndromes (MEN 2): Results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
    • Romei C, Mariotti S, Fugazzola L et al: Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol 2010; 163: 301-308.
    • (2010) Eur J Endocrinol , vol.163 , pp. 301-308
    • Romei, C.1    Mariotti, S.2    Fugazzola, L.3
  • 7
    • 78650484357 scopus 로고    scopus 로고
    • Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
    • Frank-Raue K, Rybicki LA, Erlic Z et al: Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat 2010; 32: 51-58.
    • (2010) Hum Mutat , vol.32 , pp. 51-58
    • Frank-Raue, K.1    Rybicki, L.A.2    Erlic, Z.3
  • 8
    • 78650184526 scopus 로고    scopus 로고
    • Update multiple endocrine neoplasia type 2
    • Raue F, Frank-Raue K: Update multiple endocrine neoplasia type 2. Fam Cancer 2010; 9: 449-457.
    • (2010) Fam Cancer , vol.9 , pp. 449-457
    • Raue, F.1    Frank-Raue, K.2
  • 11
    • 0033729031 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 2 and RET: From neoplasia to neurogenesis
    • Hansford JR, Mulligan LM: Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet 2000; 37: 817-827.
    • (2000) J Med Genet , vol.37 , pp. 817-827
    • Hansford, J.R.1    Mulligan, L.M.2
  • 12
    • 12744279752 scopus 로고    scopus 로고
    • Studying the genetics of Hirschsprung's disease: Unraveling an oligogenic disorder
    • Brooks AS, Oostra BA, Hofstra RM: Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet 2005; 67: 6-14.
    • (2005) Clin Genet , vol.67 , pp. 6-14
    • Brooks, A.S.1    Oostra, B.A.2    Hofstra, R.M.3
  • 13
    • 50649083690 scopus 로고    scopus 로고
    • Medullary thyroid carcinoma without marked elevation of calcitonin: A diagnostic and surveillance dilemma
    • Wang TS, Ocal IT, Sosa JA, Cox H, Roman S: Medullary thyroid carcinoma without marked elevation of calcitonin: a diagnostic and surveillance dilemma. Thyroid 2008; 18: 889-894.
    • (2008) Thyroid , vol.18 , pp. 889-894
    • Wang, T.S.1    Ocal, I.T.2    Sosa, J.A.3    Cox, H.4    Roman, S.5
  • 14
    • 50649100154 scopus 로고    scopus 로고
    • Normal perioperative serum calcitonin levels in patients with advanced medullary thyroid carcinoma: Case report and review of the literature
    • Dora JM, Canalli MH, Capp C, Punales MK, Vieira JG, Maia AL: Normal perioperative serum calcitonin levels in patients with advanced medullary thyroid carcinoma: case report and review of the literature. Thyroid 2008; 18: 895-899.
    • (2008) Thyroid , vol.18 , pp. 895-899
    • Dora, J.M.1    Canalli, M.H.2    Capp, C.3    Punales, M.K.4    Vieira, J.G.5    Maia, A.L.6
  • 15
    • 0028865592 scopus 로고
    • Primary hyperparathyroidism in multiple endocrine neoplasia type 2A
    • Raue F, Kraimps JL, Dralle H et al: Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med 1995; 238: 369-373.
    • (1995) J Intern Med , vol.238 , pp. 369-373
    • Raue, F.1    Kraimps, J.L.2    Dralle, H.3
  • 16
    • 69149093162 scopus 로고    scopus 로고
    • Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome
    • Pacak K, Eisenhofer G, Ilias I: Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome. Hormones (Athens) 2009; 8: 111-116.
    • (2009) Hormones (Athens) , vol.8 , pp. 111-116
    • Pacak, K.1    Eisenhofer, G.2    Ilias, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.