메뉴 건너뛰기




Volumn 13, Issue 5, 2000, Pages 457-465

A concise genetic and clinical guide to multiple endocrine neoplasias and related syndromes

Author keywords

Carney complex; Cowden disease; Hamartomatoses; Lentiginosis; Multiple endocrine neoplasia syndromes; Peutz Jeghers syndrome

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARNEY COMPLEX; CLINICAL FEATURE; COWDEN SYNDROME; EARLY DIAGNOSIS; GENETIC SCREENING; HAMARTOMA; HUMAN; LENTIGINOSIS; MOLECULAR BIOLOGY; MOLECULAR GENETICS; MORBIDITY; MORTALITY; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; OUTCOMES RESEARCH; PEUTZ JEGHERS SYNDROME; PROGNOSIS; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA;

EID: 0034066542     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2000.13.5.457     Document Type: Article
Times cited : (36)

References (36)
  • 1
    • 0000319647 scopus 로고
    • Genetic aspects of adenomatosis of endocrine glands
    • Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med 1954; 16: 363-371.
    • (1954) Am J Med , vol.16 , pp. 363-371
    • Wermer, P.1
  • 2
    • 0001251788 scopus 로고
    • The association of pheochromocytomas with carcinoma of the thyroid gland
    • Sipple JH. The association of pheochromocytomas with carcinoma of the thyroid gland. Am J Med 1961; 31: 163-166.
    • (1961) Am J Med , vol.31 , pp. 163-166
    • Sipple, J.H.1
  • 3
    • 0032531169 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1: Clinical and genetic topics
    • Marx S. Multiple endocrine neoplasia type 1: Clinical and genetic topics. Ann Intern Med 1998; 129: 484-494.
    • (1998) Ann Intern Med , vol.129 , pp. 484-494
    • Marx, S.1
  • 4
    • 0029836333 scopus 로고    scopus 로고
    • The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschprung's disease
    • Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschprung's disease. N Engl J Med 1996; 335: 943-951.
    • (1996) N Engl J Med , vol.335 , pp. 943-951
    • Eng, C.1
  • 5
    • 0033384885 scopus 로고    scopus 로고
    • The human genome project, positional cloning of inherited disease genes, and multiple endocrine neoplasia type 1
    • Chandrasekharappa SC. The human genome project, positional cloning of inherited disease genes, and multiple endocrine neoplasia type 1. J Endocr Genet 1999; 1: 3-8.
    • (1999) J Endocr Genet , vol.1 , pp. 3-8
    • Chandrasekharappa, S.C.1
  • 7
    • 0030049026 scopus 로고    scopus 로고
    • Carney complex, a familial multiple neoplasia and lentiginosis syndrome: Analysis of 11 kindreds and linkage to the short arm of chromosome 2
    • Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, Pras E, Chrousos GP. Carney complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996; 97: 699-705.
    • (1996) J Clin Invest , vol.97 , pp. 699-705
    • Stratakis, C.A.1    Carney, J.A.2    Lin, J.P.3    Papanicolaou, D.A.4    Karl, M.5    Kastner, D.L.6    Pras, E.7    Chrousos, G.P.8
  • 12
    • 0028887421 scopus 로고
    • Identification of the von Hippel-Lindau (VHL) gene
    • Linehan WM, Lerman MI, Zbar B. Identification of the von Hippel-Lindau (VHL) gene. JAMA 1995; 273: 564-570.
    • (1995) JAMA , vol.273 , pp. 564-570
    • Linehan, W.M.1    Lerman, M.I.2    Zbar, B.3
  • 13
    • 0004924477 scopus 로고
    • Multiple endocrine neoplasia type 2 syndromes: Nomenclature recommendations from the workshop organizing committee
    • Gagel RF, Jackson CE, Ponder BAJ, Raue F, Simpson NE, Ziegler R. Multiple endocrine neoplasia type 2 syndromes: Nomenclature recommendations from the workshop organizing committee. Henry Ford Hosp Med J 1989; 37: 99.
    • (1989) Henry Ford Hosp Med J , vol.37 , pp. 99
    • Gagel, R.F.1    Jackson, C.E.2    Ponder, B.A.J.3    Raue, F.4    Simpson, N.E.5    Ziegler, R.6
  • 16
  • 17
    • 0033388487 scopus 로고    scopus 로고
    • Germline V804M mutation in the RET proto-oncogene in two apparently sporadic cases of MTC presenting in the seventh decade of life
    • Shannon KE, Gimm O, Hinze R, Dralle H, Eng C. Germline V804M mutation in the RET proto-oncogene in two apparently sporadic cases of MTC presenting in the seventh decade of life. J Endocr Genet 1999; 1: 39-45.
    • (1999) J Endocr Genet , vol.1 , pp. 39-45
    • Shannon, K.E.1    Gimm, O.2    Hinze, R.3    Dralle, H.4    Eng, C.5
  • 18
    • 0032138226 scopus 로고    scopus 로고
    • Editorial: Multiple endocrine neoplasia-syndromes of the twentieth century
    • Thakker RV. Editorial: Multiple endocrine neoplasia-syndromes of the twentieth century. J Clin Endocrinol Metab 1998; 83: 2617-2619.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2617-2619
    • Thakker, R.V.1
  • 19
    • 0030138185 scopus 로고    scopus 로고
    • RET protooncogene mutations and endocrine neoplasia - A story intertwined with neural crest differentiation
    • Gagel RF. RET protooncogene mutations and endocrine neoplasia - a story intertwined with neural crest differentiation. [Editorial]. Endocrinology 1996; 137: 1509-1511.
    • (1996) Endocrinology , vol.137 , pp. 1509-1511
    • Gagel, R.F.1
  • 22
    • 0031741050 scopus 로고    scopus 로고
    • Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease
    • Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, Antinolo G. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 1998; 83: 3361-3364.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3361-3364
    • Borrego, S.1    Eng, C.2    Sanchez, B.3    Saez, M.E.4    Navarro, E.5    Antinolo, G.6
  • 23
    • 0031149999 scopus 로고    scopus 로고
    • RET in human development and oncogenesis
    • Edery P, Eng C, Munnich A, Lyonnet S. RET in human development and oncogenesis. Bioessays 1997; 19: 389-395.
    • (1997) Bioessays , vol.19 , pp. 389-395
    • Edery, P.1    Eng, C.2    Munnich, A.3    Lyonnet, S.4
  • 24
    • 0030896418 scopus 로고    scopus 로고
    • Mutations of the RET protooncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease
    • Eng C, Mulligan LM. Mutations of the RET protooncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. Hum Mutat 1997; 9: 97-109.
    • (1997) Hum Mutat , vol.9 , pp. 97-109
    • Eng, C.1    Mulligan, L.M.2
  • 25
    • 0031748315 scopus 로고    scopus 로고
    • Clinical and genetic analysis of bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome
    • Stratakis CA, Kirschner LS. Clinical and genetic analysis of bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 1998; 30: 456-463.
    • (1998) Horm Metab Res , vol.30 , pp. 456-463
    • Stratakis, C.A.1    Kirschner, L.S.2
  • 26
    • 0030986161 scopus 로고    scopus 로고
    • Primary pigmented nodular adrenocortical disease (PPNAD): Re-evaluation of a patient with Carney complex 27 years after unilateral adrenalectomy
    • Sarlis NJ, Chrousos GP, Doppman JL, Carney JA, Stratakis CA. Primary pigmented nodular adrenocortical disease (PPNAD): re-evaluation of a patient with Carney complex 27 years after unilateral adrenalectomy. J Clin Endocrinol Metab 1997; 82: 2037-2043.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2037-2043
    • Sarlis, N.J.1    Chrousos, G.P.2    Doppman, J.L.3    Carney, J.A.4    Stratakis, C.A.5
  • 28
    • 0030835716 scopus 로고    scopus 로고
    • Thyroid gland abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, and endocrine over-activity" (Carney complex)
    • Stratakis CA, Courcoutsakis N, Abati A, Filie A, Doppman JL, Carney JA, Shawker T. Thyroid gland abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, and endocrine over-activity" (Carney complex). J Clin Endocrinol Metab 1997; 82: 2037-2043.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 2037-2043
    • Stratakis, C.A.1    Courcoutsakis, N.2    Abati, A.3    Filie, A.4    Doppman, J.L.5    Carney, J.A.6    Shawker, T.7
  • 30
    • 0000152018 scopus 로고
    • Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: A syndrome of diagnostic significance
    • Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance. N Engl J Med 1949; 241: 997-1005 and 1031-1036.
    • (1949) N Engl J Med , vol.241 , pp. 997-1005
    • Jeghers, H.1    McKusick, V.A.2    Katz, K.H.3
  • 31
    • 0024238366 scopus 로고
    • Peutz-Jeghers syndrome: A clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up
    • Foley TR, McGarrity TJ, Abt AB. Peutz-Jeghers syndrome: a clinicopathologic survey of the "Harrisburg family" with a 49-year follow-up. Gastroenterology 1988; 95: 1535-1540.
    • (1988) Gastroenterology , vol.95 , pp. 1535-1540
    • Foley, T.R.1    McGarrity, T.J.2    Abt, A.B.3
  • 35
    • 0032769145 scopus 로고    scopus 로고
    • Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)
    • Goldstein MM, Casey M, Carney JA, Basson CT. Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex). Am J Med Genet 1999; 86: 62-65.
    • (1999) Am J Med Genet , vol.86 , pp. 62-65
    • Goldstein, M.M.1    Casey, M.2    Carney, J.A.3    Basson, C.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.