메뉴 건너뛰기




Volumn 19, Issue 1, 2000, Pages 41-68

Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes

Author keywords

Arterial dissections; Carney complex; Genetics; Lentigines; LEOPARD syndrome; Multiple endocrine neoplasia; Myxoma; Peutz Jeghers syndrome; Review; Ruvalcaba Myhre Smith syndrome

Indexed keywords

ADENOMA; AUTOSOMAL DOMINANT INHERITANCE; CARNEY COMPLEX; CLINICAL FEATURE; COWDEN SYNDROME; GENE LOCATION; GENE LOCUS; HEART MYXOMA; HUMAN; HYPERTELORISM; LENTIGINOSIS; MULTIPLE CANCER; PATHOPHYSIOLOGY; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; REVIEW; SYMPTOM;

EID: 0033945831     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/15513810009168808     Document Type: Review
Times cited : (10)

References (127)
  • 1
    • 0027181632 scopus 로고
    • The role of gene mutations in the genesis of familial cancers
    • Eng C, Ponder BAJ. The role of gene mutations in the genesis of familial cancers. FASEB J 1993;7:710-919.
    • (1993) FASEB J , vol.7 , pp. 710-919
    • Eng, C.1    Ponder, B.A.J.2
  • 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
  • 8
    • 0029128828 scopus 로고
    • PAX genes: What's new in developmental biology and cancer?
    • Stuart ET, Gruss P. PAX genes: what's new in developmental biology and cancer? Hum Mol Genet 1995;4:1717-1720.
    • (1995) Hum Mol Genet , vol.4 , pp. 1717-1720
    • Stuart, E.T.1    Gruss, P.2
  • 9
    • 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 & 1031-1036.
    • (1949) N Engl J Med , vol.241 , pp. 997-1005
    • Jeghers, H.1    McKusick, V.A.2    Katz, K.H.3
  • 10
    • 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 J-P, 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
  • 11
    • 0031012344 scopus 로고    scopus 로고
    • Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis
    • Hemminki A, Tomlison I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist A-M. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.
    • (1997) Nat Genet , vol.15 , pp. 87-90
    • Hemminki, A.1    Tomlison, I.2    Markie, D.3    Jarvinen, H.4    Sistonen, P.5    Bjorkqvist, A.-M.6
  • 13
    • 0002066705 scopus 로고
    • Neoplasmas: Benign neoplasias, hyperplasias, and dysplasias of melanocytes
    • Eds: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, Mc Graw Hill, NY
    • Rhodes A. Neoplasmas: benign neoplasias, hyperplasias, and dysplasias of melanocytes. In: Dermatology in general medicine. Eds: Fitzpatrick TB, Eisen AZ, Wolff K, Freedberg IM, Austen KF, Mc Graw Hill, NY 1993;1078-1116.
    • (1993) Dermatology in General Medicine , pp. 1078-1116
    • Rhodes, A.1
  • 14
    • 0022397926 scopus 로고
    • The complex of myxomas, spotty pigmentation, and endocrine overactivity
    • Baltimore
    • Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VLW. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985;64:270-283.
    • (1985) Medicine , vol.64 , pp. 270-283
    • Carney, J.A.1    Gordon, H.2    Carpenter, P.C.3    Shenoy, B.V.4    Go, V.L.W.5
  • 15
  • 16
    • 0021339563 scopus 로고
    • Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome
    • Shenoy BV, Carpenter PC, Carney JA. Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome. Am J Surg Pathol 1984;8:335-344.
    • (1984) Am J Surg Pathol , vol.8 , pp. 335-344
    • Shenoy, B.V.1    Carpenter, P.C.2    Carney, J.A.3
  • 17
    • 0019123675 scopus 로고
    • Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia)
    • Copenh
    • Schweizer-Cagianut M, Froesch ER, Hedinger CE. Familial Cushing's syndrome with primary adrenocortical microadenomatosis (primary adrenocortical nodular dysplasia). Acta Endocrinol (Copenh) 1980;94:529-535.
    • (1980) Acta Endocrinol , vol.94 , pp. 529-535
    • Schweizer-Cagianut, M.1    Froesch, E.R.2    Hedinger, C.E.3
  • 18
    • 0022446058 scopus 로고
    • Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity
    • Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation and endocrine overactivity. Mayo Clin Proc 1986;61:165-172.
    • (1986) Mayo Clin Proc , vol.61 , pp. 165-172
    • Carney, J.A.1    Hruska, L.S.2    Beauchamp, G.D.3    Gordon, H.4
  • 19
    • 80051974356 scopus 로고
    • Primary pigmented nodular adrenocortical disease and its associated conditions
    • Carney JA, Young WF. Primary pigmented nodular adrenocortical disease and its associated conditions. Endocrinologist 1992;2:6-21.
    • (1992) Endocrinologist , vol.2 , pp. 6-21
    • Carney, J.A.1    Young, W.F.2
  • 20
    • 0018928973 scopus 로고
    • A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: The NAME syndrome
    • Atherton DJ, Pitcher DW, Wells RS, Macdonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol 1980;103:421-429.
    • (1980) Br J Dermatol , vol.103 , pp. 421-429
    • Atherton, D.J.1    Pitcher, D.W.2    Wells, R.S.3    Macdonald, D.M.4
  • 21
    • 0021335647 scopus 로고
    • Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The "LAMB" syndrome
    • Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The "LAMB" syndrome. J Am Acad. Dermatol 1984;10:72-82.
    • (1984) J am Acad. Dermatol , vol.10 , pp. 72-82
    • Rhodes, A.R.1    Silverman, R.A.2    Harrist, T.J.3    Perez-Atayde, A.R.4
  • 22
    • 0021929851 scopus 로고
    • Differences between nonfamilial and familial cardiac myxoma
    • Carney JA. Differences between nonfamilial and familial cardiac myxoma. Am J Surg Pathol 1985;9:53-55.
    • (1985) Am J Surg Pathol , vol.9 , pp. 53-55
    • Carney, J.A.1
  • 24
    • 0028140432 scopus 로고
    • Myxomas of the external ear and their significance
    • Ferreiro JA, Carney JA. Myxomas of the external ear and their significance. Am J Surg Pathol 1994;18:274-280.
    • (1994) Am J Surg Pathol , vol.18 , pp. 274-280
    • Ferreiro, J.A.1    Carney, J.A.2
  • 25
    • 0025783744 scopus 로고
    • Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. a heritable disorder with special associations including cardiac and cutaneous myxomas
    • Carney JA, Toorkey BC. Myxoid fibroadenoma and allied conditions (myxomatosis) of the breast. A heritable disorder with special associations including cardiac and cutaneous myxomas. Am J Surg Pathol 1991;15:713-721.
    • (1991) Am J Surg Pathol , vol.15 , pp. 713-721
    • Carney, J.A.1    Toorkey, B.C.2
  • 26
    • 0030770303 scopus 로고    scopus 로고
    • Breast imaging findings in the complex of myxomas, spotty pigmentation, endocrine veractivity, and schwannomas (Carney complex)
    • Courcoutsakis NA, Chow CK, Shawker T, Carney JA, Stratakis CA. Breast imaging findings in the complex of myxomas, spotty pigmentation, endocrine veractivity, and schwannomas (Carney complex) Radiology 1997;205:221-227.
    • (1997) Radiology , vol.205 , pp. 221-227
    • Courcoutsakis, N.A.1    Chow, C.K.2    Shawker, T.3    Carney, J.A.4    Stratakis, C.A.5
  • 27
    • 0030049959 scopus 로고    scopus 로고
    • The epithelioid blue nevus. a multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma
    • Carney JA, Ferreiro JA. The epithelioid blue nevus. A multicentric familial tumor with important associations, including cardiac myxoma and psammomatous melanotic schwannoma. Am J Surg Pathol 1996;20:259-272.
    • (1996) Am J Surg Pathol , vol.20 , pp. 259-272
    • Carney, J.A.1    Ferreiro, J.A.2
  • 28
    • 58149212170 scopus 로고
    • Carney complex: The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas
    • Carney JA. Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Semin Dermatol 1995;14:90-98.
    • (1995) Semin Dermatol , vol.14 , pp. 90-98
    • Carney, J.A.1
  • 30
    • 0001706295 scopus 로고
    • Studies of the adrenal hyperfunction in 2 patients with atypical Cushing's syndrome
    • Mellinger RC, Smith RW. Studies of the adrenal hyperfunction in 2 patients with atypical Cushing's syndrome. J Clin Endocrinol Metab 1955;16:350-366.
    • (1955) J Clin Endocrinol Metab , vol.16 , pp. 350-366
    • Mellinger, R.C.1    Smith, R.W.2
  • 31
    • 0000497378 scopus 로고
    • Bilaterale kleiknotige Adenomatose der Nebennierenrinde bei Cushing-Syndrom
    • Kracht J, Tamm J. Bilaterale kleiknotige Adenomatose der Nebennierenrinde bei Cushing-Syndrom. Virchows Arch. path. Anat 1960;333:1-9.
    • (1960) Virchows Arch. Path. Anat , vol.333 , pp. 1-9
    • Kracht, J.1    Tamm, J.2
  • 32
    • 0013877499 scopus 로고
    • The development of bilateral adenomatous adrenal hyperplasia in a case of Cushing's syndrome of eighteen years' duration
    • Levin ME. The development of bilateral adenomatous adrenal hyperplasia in a case of Cushing's syndrome of eighteen years' duration. Am J Med 1966;40:318-324.
    • (1966) Am J Med , vol.40 , pp. 318-324
    • Levin, M.E.1
  • 34
    • 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
  • 35
    • 0024334935 scopus 로고
    • Periodic Cushing's syndrome in a short boy: Usefulness of the ovine corticotropin releasing hormone test
    • Gomez-Muguruza MT, Chrousos GP. Periodic Cushing's syndrome in a short boy: usefulness of the ovine corticotropin releasing hormone test. J Pediatr 1989;115:270-273.
    • (1989) J Pediatr , vol.115 , pp. 270-273
    • Gomez-Muguruza, M.T.1    Chrousos, G.P.2
  • 37
    • 0025272856 scopus 로고
    • Psammomatous melanotic schwannoma. a distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome
    • Carney JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am J Surg Pathol 1990;14:206-222.
    • (1990) Am J Surg Pathol , vol.14 , pp. 206-222
    • Carney, J.A.1
  • 38
    • 0025899534 scopus 로고
    • Ductal adenoma of the breast with tubular futures. a probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas
    • Carney JA, Toorkey BC. Ductal adenoma of the breast with tubular futures. A probable component of the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. Am J Surg Pathol 1991;15:722-731.
    • (1991) Am J Surg Pathol , vol.15 , pp. 722-731
    • Carney, J.A.1    Toorkey, B.C.2
  • 40
    • 0030835716 scopus 로고    scopus 로고
    • Thyroid gland abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, and endocrine overactivity" (Carney complex)
    • Stratakis CA, Courcoutsakis N, Abati A, Filie A, Coppman JL, Carney JA, Shawker TH. Thyroid gland abnormalities in patients with the "syndrome of spotty skin pigmentation, myxomas, and endocrine overactivity" (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    Coppman, J.L.5    Carney, J.A.6    Shawker, T.H.7
  • 41
    • 4243495931 scopus 로고
    • Genetics of Carney complex: Parent of origin effects and putative non-Mendelian features in an autosomal dominant disorder; absence of common defects of the ACTH receptor and RET genes
    • Stratakis CA, Pras E, Tsigos C, Karl M, Papanicolaou DA, Kastner DL, Chrousos GP. Genetics of Carney complex: parent of origin effects and putative non-Mendelian features in an autosomal dominant disorder; absence of common defects of the ACTH receptor and RET genes. [Abstract], Pediatr Res 1995;37:99A.
    • (1995) Pediatr Res , vol.37
    • Stratakis, C.A.1    Pras, E.2    Tsigos, C.3    Karl, M.4    Papanicolaou, D.A.5    Kastner, D.L.6    Chrousos, G.P.7
  • 42
    • 0031836734 scopus 로고    scopus 로고
    • Carney complex and the familial lentiginosis syndromes: Link to inherited neoplasias and developmental disorders and genetic loci
    • Chrousos GP, Stratakis CA. Carney complex and the familial lentiginosis syndromes: link to inherited neoplasias and developmental disorders and genetic loci. J Intern Med 1998;243:573-579.
    • (1998) J Intern Med , vol.243 , pp. 573-579
    • Chrousos, G.P.1    Stratakis, C.A.2
  • 43
    • 0028900166 scopus 로고
    • The hamartomatous polyposis syndromes: Clinical and radiologic features
    • Harned R, Buck JL. The hamartomatous polyposis syndromes: clinical and radiologic features. Am J Radiol 1995;164:565-571.
    • (1995) Am J Radiol , vol.164 , pp. 565-571
    • Harned, R.1    Buck, J.L.2
  • 44
    • 0020443317 scopus 로고
    • Peutz-Jeghers Syndrome: A clinicopathologic study of a large family with a 7-year followup
    • Burdick D, Prior JT. Peutz-Jeghers Syndrome: A clinicopathologic study of a large family with a 7-year followup. Cancer 1982;50:2139-2146.
    • (1982) Cancer , vol.50 , pp. 2139-2146
    • Burdick, D.1    Prior, J.T.2
  • 45
    • 0027933181 scopus 로고
    • Melanoses of the gastrointestinal tract
    • Ghadially FN, Walley VM. Melanoses of the gastrointestinal tract. Histopathology 1994;25:197-207.
    • (1994) Histopathology , vol.25 , pp. 197-207
    • Ghadially, F.N.1    Walley, V.M.2
  • 46
    • 0028061678 scopus 로고
    • Hereditary gastrointestinal polyposis and non-polyposis syndromes
    • Rustgi AK. Hereditary gastrointestinal polyposis and non-polyposis syndromes. N Engl J Med 1994;331:1694-1702.
    • (1994) N Engl J Med , vol.331 , pp. 1694-1702
    • Rustgi, A.K.1
  • 47
    • 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
  • 52
    • 0000039346 scopus 로고
    • Generalized gastrointestinal polyposis: An unusual syndrome of polyposis, pigmentation, alopecia, and onychotrophia
    • Cronkhite LW, Canada WJ. Generalized gastrointestinal polyposis: an unusual syndrome of polyposis, pigmentation, alopecia, and onychotrophia. N Engl J Med 1955;252:1011-1015.
    • (1955) N Engl J Med , vol.252 , pp. 1011-1015
    • Cronkhite, L.W.1    Canada, W.J.2
  • 54
    • 0029017525 scopus 로고
    • Diagnosis and therapy of hereditary polyposis syndromes
    • Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist 1995;3:153-167.
    • (1995) Gastroenterologist , vol.3 , pp. 153-167
    • Luk, G.D.1
  • 55
    • 0019195703 scopus 로고
    • Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
    • Ruvalcaba RHA, Myhre S, Smith DW. Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 1980;18:413-416.
    • (1980) Clin Genet , vol.18 , pp. 413-416
    • Ruvalcaba, R.H.A.1    Myhre, S.2    Smith, D.W.3
  • 56
    • 0020595287 scopus 로고
    • Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal dominant inheritance and additional manifestations
    • DiLiberti JH, Welcher RG, Budden S. Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal dominant inheritance and additional manifestations. Am J Med Genet 1983;15:491-495.
    • (1983) Am J Med Genet , vol.15 , pp. 491-495
    • Diliberti, J.H.1    Welcher, R.G.2    Budden, S.3
  • 59
    • 0015327448 scopus 로고
    • Progressive cardiomyopathic lentiginosis
    • Polani PE, Moynahan EJ. Progressive cardiomyopathic lentiginosis. Quart J Med 1972;41:205-225.
    • (1972) Quart J Med , vol.41 , pp. 205-225
    • Polani, P.E.1    Moynahan, E.J.2
  • 60
    • 0017239817 scopus 로고
    • Cardio-cutaneous syndrome (the "LEOPARD" syndrome) Review of the literature and a new family
    • Senanez H, Mane-Garzon F, Kolski R. Cardio-cutaneous syndrome (the "LEOPARD" syndrome) Review of the literature and a new family. Clin Genet 1976;9:266-276.
    • (1976) Clin Genet , vol.9 , pp. 266-276
    • Senanez, H.1    Mane-Garzon, F.2    Kolski, R.3
  • 61
    • 0014094718 scopus 로고
    • Pulmonary stenosis, cafe-au-lait spots, and dull intelligence
    • Watson GH. Pulmonary stenosis, cafe-au-lait spots, and dull intelligence. Arch Dis Child 1967;42:303-307.
    • (1967) Arch Dis Child , vol.42 , pp. 303-307
    • Watson, G.H.1
  • 62
    • 0015020589 scopus 로고
    • The LEOPARD (multiple lentigines) syndrome revisited
    • Gorlin RJ, Anderson RC, Moller JH. The LEOPARD (multiple lentigines) syndrome revisited. Birth Defects 1971;1971:100-115.
    • (1971) Birth Defects , vol.1971 , pp. 100-115
    • Gorlin, R.J.1    Anderson, R.C.2    Moller, J.H.3
  • 63
    • 0029117167 scopus 로고
    • Multiple lentigenes (Leopard) syndrome with Chiari I malformation
    • Agha A, Hashimoto K. Multiple lentigenes (Leopard) syndrome with Chiari I malformation. J Dermatol 1995;22:520-523.
    • (1995) J Dermatol , vol.22 , pp. 520-523
    • Agha, A.1    Hashimoto, K.2
  • 64
    • 0029990055 scopus 로고    scopus 로고
    • Pigmentary anomalies in the multiple lentigines syndrome: Is it distinct from the LEOPARD syndrome?
    • Arnsmeiler SL, Paller AS. Pigmentary anomalies in the multiple lentigines syndrome: is it distinct from the LEOPARD syndrome? Pediatr Dermatol 1996;13:100-104.
    • (1996) Pediatr Dermatol , vol.13 , pp. 100-104
    • Arnsmeiler, S.L.1    Paller, A.S.2
  • 65
    • 0014766459 scopus 로고
    • Generalized lentigo, electrocardiographic abnormalities, conduction disorders and arrhythmia in three cases
    • Smith, RF, Puliciccio LU, Holmes AV. Generalized lentigo, electrocardiographic abnormalities, conduction disorders and arrhythmia in three cases. Am J Cardiol 1970;25:501-506.
    • (1970) Am J Cardiol , vol.25 , pp. 501-506
    • Smith, R.F.1    Puliciccio, L.U.2    Holmes, A.V.3
  • 66
    • 0026769969 scopus 로고
    • Nasopharyngeal rhabdomyosarcoma and multiple lentigines syndrome: A case report
    • Heney D, Lockwood L, Allibone EB, Bailey CC. Nasopharyngeal rhabdomyosarcoma and multiple lentigines syndrome: a case report. Med Pediatr Oncol 1992;20:227-228.
    • (1992) Med Pediatr Oncol , vol.20 , pp. 227-228
    • Heney, D.1    Lockwood, L.2    Allibone, E.B.3    Bailey, C.C.4
  • 68
    • 0024450330 scopus 로고
    • Inherited patterned lentiginosis in blacks
    • O'Neill JF, James WD. Inherited patterned lentiginosis in blacks. Arch Dermatol 1989;125:1231-1235.
    • (1989) Arch Dermatol , vol.125 , pp. 1231-1235
    • O'Neill, J.F.1    James, W.D.2
  • 70
    • 0020533348 scopus 로고
    • Partial unilateral lentiginosis in a black patient with sickle cell anemia
    • Hughes GS, Park KH, Jones BE. Partial unilateral lentiginosis in a black patient with sickle cell anemia. J Am Acad Dermatol 1983;8:563-565.
    • (1983) J am Acad Dermatol , vol.8 , pp. 563-565
    • Hughes, G.S.1    Park, K.H.2    Jones, B.E.3
  • 72
    • 0026004638 scopus 로고
    • Laugier-Hunziker syndrome: A clinical, histopathologic, and ultrastructural study of four cases and review of the literature
    • Veraldi S, Cavicchini S, Benelli C, Gasparini G. Laugier-Hunziker syndrome: a clinical, histopathologic, and ultrastructural study of four cases and review of the literature. J Am Acad Dermatol 1991;25:632-636.
    • (1991) J am Acad Dermatol , vol.25 , pp. 632-636
    • Veraldi, S.1    Cavicchini, S.2    Benelli, C.3    Gasparini, G.4
  • 73
    • 0029971147 scopus 로고    scopus 로고
    • Idiopathic lenticular mucocutaneous pigmentation or Laugier-Hunziker syndrome with atypical features
    • Gerbig AW. Idiopathic lenticular mucocutaneous pigmentation or Laugier-Hunziker syndrome with atypical features. Arch Dermatol 1996;132:844-845.
    • (1996) Arch Dermatol , vol.132 , pp. 844-845
    • Gerbig, A.W.1
  • 74
    • 0014431125 scopus 로고
    • Melanotic macules in Albright's syndrome and in neurofibromatosis
    • Benedict PH, Szabo G, Fitzpatrick TB, Sinesi SJ. Melanotic macules in Albright's syndrome and in neurofibromatosis. JAMA 1968;205:618-626.
    • (1968) JAMA , vol.205 , pp. 618-626
    • Benedict, P.H.1    Szabo, G.2    Fitzpatrick, T.B.3    Sinesi, S.J.4
  • 77
    • 0021349341 scopus 로고
    • The spectrum of Dowling-Degos disease
    • Rebora A, Crovato F. The spectrum of Dowling-Degos disease. Br J Dermatol 1984;110:627-630.
    • (1984) Br J Dermatol , vol.110 , pp. 627-630
    • Rebora, A.1    Crovato, F.2
  • 78
    • 0000997544 scopus 로고
    • Hemangiomas of the small intestine associated with mucocutaneous pigmentation
    • Bandler M. Hemangiomas of the small intestine associated with mucocutaneous pigmentation. Gastroenterology 1960;38:641-645.
    • (1960) Gastroenterology , vol.38 , pp. 641-645
    • Bandler, M.1
  • 79
    • 0020041578 scopus 로고
    • Gastro-cutaneous syndrome: Peptic ulcer/hiatal hernia, multiple lentigines/Café-au-lait spots, hypertelorism and myopia
    • Halai F, Gervais M-H, Baillargeon J, Lesage R. Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/Café-au-lait spots, hypertelorism and myopia. Am J Med Genet 1982;11:161-176.
    • (1982) Am J Med Genet , vol.11 , pp. 161-176
    • Halai, F.1    Gervais, M.-H.2    Baillargeon, J.3    Lesage, R.4
  • 80
    • 0019507439 scopus 로고
    • Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: A new genetic syndrome in 3 sibs
    • Lison M, Kornbrut B, Feinstein A, Hiss Y, Boichis H, Goodman RM. Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. Am J Med Genet 1981;9:351-357.
    • (1981) Am J Med Genet , vol.9 , pp. 351-357
    • Lison, M.1    Kornbrut, B.2    Feinstein, A.3    Hiss, Y.4    Boichis, H.5    Goodman, R.M.6
  • 83
    • 0031865545 scopus 로고    scopus 로고
    • Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: A new dominant syndrome
    • Gorlin RJ, Koutlas IG. Multiple schwannomas, multiple nevi, and multiple vaginal leiomyomas: a new dominant syndrome. Am J Med Genet 1998;78:76-81.
    • (1998) Am J Med Genet , vol.78 , pp. 76-81
    • Gorlin, R.J.1    Koutlas, I.G.2
  • 84
    • 0030879211 scopus 로고    scopus 로고
    • Familial aggregation of malignant melanoma/dysplastic nevi and tumors of the nervous system: An original syndrome of tumor proneness
    • Bahuau M, Didaud D, Kujas M, Papangie A, Assouline B, Chaignaud-Lebreton M. Familial aggregation of malignant melanoma/dysplastic nevi and tumors of the nervous system: an original syndrome of tumor proneness. Ann Genet 1997;40:78-91.
    • (1997) Ann Genet , vol.40 , pp. 78-91
    • Bahuau, M.1    Didaud, D.2    Kujas, M.3    Papangie, A.4    Assouline, B.5    Chaignaud-Lebreton, M.6
  • 87
    • 0002490052 scopus 로고
    • Carney complex, a multiple endocrine neoplasia and familial lentiginosis syndrome: Clinical analysis and linkage to the D2S123 locus (chromosome 2p16)
    • Stratakis CA, Pras E, Lin J-P, Kastner DL, Carney JA, Chrousos GP. Carney complex, a multiple endocrine neoplasia and familial lentiginosis syndrome: clinical analysis and linkage to the D2S123 locus (chromosome 2p16) Am J Hum Genet 1995;57:A54.
    • (1995) Am J Hum Genet , vol.57
    • Stratakis, C.A.1    Pras, E.2    Lin, J.-P.3    Kastner, D.L.4    Carney, J.A.5    Chrousos, G.P.6
  • 88
  • 89
    • 0028595722 scopus 로고
    • Binding of mismatched microsatellite DNA sequences by the human MSH2 protein
    • Fishel R, Ewel A, Lee S, Lescoe MK, Griffith J. Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science 1994;266:1403-1405.
    • (1994) Science , vol.266 , pp. 1403-1405
    • Fishel, R.1    Ewel, A.2    Lee, S.3    Lescoe, M.K.4    Griffith, J.5
  • 90
    • 0029008683 scopus 로고
    • GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells
    • Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 1995;268:1912-1914.
    • (1995) Science , vol.268 , pp. 1912-1914
    • Palombo, F.1    Gallinari, P.2    Iaccarino, I.3    Lettieri, T.4    Hughes, M.5    D'Arrigo, A.6
  • 91
    • 0023188432 scopus 로고
    • Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas
    • Dewald GW, Dahl RJ, Spurbeck JL, Carney JA, Gordon H. Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas. Mayo Clin. Proc 1987;62:558-567.
    • (1987) Mayo Clin. Proc , vol.62 , pp. 558-567
    • Dewald, G.W.1    Dahl, R.J.2    Spurbeck, J.L.3    Carney, J.A.4    Gordon, H.5
  • 93
    • 0027957454 scopus 로고
    • Cardiac myxoma characterized by clonal telomeric association
    • Richkind KE, Wason D, Vidaillet HJ. Cardiac myxoma characterized by clonal telomeric association. Genes Chrom Cancer 1994;9:68-71.
    • (1994) Genes Chrom Cancer , vol.9 , pp. 68-71
    • Richkind, K.E.1    Wason, D.2    Vidaillet, H.J.3
  • 94
  • 95
    • 0022467292 scopus 로고
    • Chromosome instability in cultured skin fibroblasts from patients with familial polyposis coli and Peutz-Jeghers syndrome
    • Takai S, Iwama T, Tonomura A. Chromosome instability in cultured skin fibroblasts from patients with familial polyposis coli and Peutz-Jeghers syndrome. Jpn J Cancer Res 1986;77:759-766.
    • (1986) Jpn J Cancer Res , vol.77 , pp. 759-766
    • Takai, S.1    Iwama, T.2    Tonomura, A.3
  • 96
    • 0027222569 scopus 로고
    • Cytogenetic analysis of intestinal polyps in polyposis syndromes: Comparison with sporadic colorectal adenomas
    • Griffin CA, Lazar S, Hamilton SR, Giardello FM, Long P, Krush AJ. Cytogenetic analysis of intestinal polyps in polyposis syndromes: comparison with sporadic colorectal adenomas. Cancer Genet Cytogenet 1993;67:14-20.
    • (1993) Cancer Genet Cytogenet , vol.67 , pp. 14-20
    • Griffin, C.A.1    Lazar, S.2    Hamilton, S.R.3    Giardello, F.M.4    Long, P.5    Krush, A.J.6
  • 97
    • 0028284330 scopus 로고
    • Chromosome instability in lymphocytes from patients affected by or genetically predisposed to colorectal cancer
    • Richard F, Muleris M, Dutrillaux B. Chromosome instability in lymphocytes from patients affected by or genetically predisposed to colorectal cancer. Cancer Genet Cytogenet 1994;73:23-32.
    • (1994) Cancer Genet Cytogenet , vol.73 , pp. 23-32
    • Richard, F.1    Muleris, M.2    Dutrillaux, B.3
  • 99
    • 0342889904 scopus 로고
    • Carney complex and primary pigmented nodular adrenocortical disease: Segregation, simulation and linkage analysis using the candidate gene approach
    • Endocrine Society Press, (P3)
    • Stratakis CA, Pras E, Papanicolaou DA, Karl M, Kastner DL, Carney JA, Chrousos GP. Carney complex and primary pigmented nodular adrenocortical disease: segregation, simulation and linkage analysis using the candidate gene approach. [Abstract] Proceedings of 77th Endocrine Society Meeting, Endocrine Society Press, (P3) 1995;28.
    • (1995) Proceedings of 77th Endocrine Society Meeting , pp. 28
    • Stratakis, C.A.1    Pras, E.2    Papanicolaou, D.A.3    Karl, M.4    Kastner, D.L.5    Carney, J.A.6    Chrousos, G.P.7
  • 100
    • 0030615260 scopus 로고    scopus 로고
    • Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex)
    • Basson CT, MacRae CA, Korf B, Merliss A. Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex) Am J Cardiol 1997;79:994-995.
    • (1997) Am J Cardiol , vol.79 , pp. 994-995
    • Basson, C.T.1    MacRae, C.A.2    Korf, B.3    Merliss, A.4
  • 101
    • 0001926360 scopus 로고    scopus 로고
    • A refined genetic, radiation hybrid, and physical map of the Carney complex (CNC) locus on chromosome 2p16; evidence for genetic heterogeneity in the syndrome
    • Taymans SE, Macrae CA, Casey M, Merliss A, Lin J-P, Rocchi M, Kirschner LS, Basson CT, Stratakis CA. A refined genetic, radiation hybrid, and physical map of the Carney complex (CNC) locus on chromosome 2p16; evidence for genetic heterogeneity in the syndrome. Am J Hum Genet 1997;61:A84 [Suppl].
    • (1997) Am J Hum Genet , vol.61 , Issue.SUPPL.
    • Taymans, S.E.1    Macrae, C.A.2    Casey, M.3    Merliss, A.4    Lin, J.-P.5    Rocchi, M.6    Kirschner, L.S.7    Basson, C.T.8    Stratakis, C.A.9
  • 102
    • 0029934902 scopus 로고    scopus 로고
    • A pericentric inversion of chromosome 6 in a patient with Peutz-Jeghers syndrome and the use of FISH to localize the breakpoints on a genetic map
    • Markie D, Huson S, Maher E, Davies A, Tomlison I, Bodmer WF. A pericentric inversion of chromosome 6 in a patient with Peutz-Jeghers syndrome and the use of FISH to localize the breakpoints on a genetic map. Hum Genet 1996;98:125-128.
    • (1996) Hum Genet , vol.98 , pp. 125-128
    • Markie, D.1    Huson, S.2    Maher, E.3    Davies, A.4    Tomlison, I.5    Bodmer, W.F.6
  • 109
    • 0030456861 scopus 로고    scopus 로고
    • Exclusion of allelism of Noonan syndrome and neurofibromatosis type 1 in a large family with Noonan syndrome-neurofibromatosis association
    • Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M. Exclusion of allelism of Noonan syndrome and neurofibromatosis type 1 in a large family with Noonan syndrome-neurofibromatosis association. Am J Med Genet 1996;66:347-355.
    • (1996) Am J Med Genet , vol.66 , pp. 347-355
    • Bahuau, M.1    Flintoff, W.2    Assouline, B.3    Lyonnet, S.4    Le Merrer, M.5    Prieur, M.6
  • 110
    • 0029091673 scopus 로고
    • Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus
    • Ahlbom EB, Dahl N, Zetterqvist P, Anneren G. Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. Clin Genet 1995;48:85-89.
    • (1995) Clin Genet , vol.48 , pp. 85-89
    • Ahlbom, E.B.1    Dahl, N.2    Zetterqvist, P.3    Anneren, G.4
  • 111
    • 0029992858 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 gene mutation in a patient with features of LEOPARD syndrome
    • Wu R, Legius E, Robberecht W, Dumoulin M, Cassiman JJ, Fryns JP. Neurofibromatosis type 1 gene mutation in a patient with features of LEOPARD syndrome. Hum Mutat 1996;8:51-56.
    • (1996) Hum Mutat , vol.8 , pp. 51-56
    • Wu, R.1    Legius, E.2    Robberecht, W.3    Dumoulin, M.4    Cassiman, J.J.5    Fryns, J.P.6
  • 112
    • 0027457978 scopus 로고
    • Multiple polyps of esophagus, stomach, colon, and rectum accompanying rectal cancer in a patient with constitutional chromosomal inversion
    • Sasajima K, Yamanaka Y, Inokuchi K, Takizawa T, Ujihara Y, Ide Y. Multiple polyps of esophagus, stomach, colon, and rectum accompanying rectal cancer in a patient with constitutional chromosomal inversion. Cancer 1993;71:672-676.
    • (1993) Cancer , vol.71 , pp. 672-676
    • Sasajima, K.1    Yamanaka, Y.2    Inokuchi, K.3    Takizawa, T.4    Ujihara, Y.5    Ide, Y.6
  • 113
    • 0342455622 scopus 로고
    • Linkage of body build with sex, eye color and freckling
    • Brues AM. Linkage of body build with sex, eye color and freckling. Am J Hum Genet 1950;2:215-239.
    • (1950) Am J Hum Genet , vol.2 , pp. 215-239
    • Brues, A.M.1
  • 114
    • 0025257444 scopus 로고
    • Frequency of congenital nevi, nevi spili and cafe-au-lait spots and their relation to nevus count and skin complexion in 939 children
    • Sigg C, Pelloni F, Schnyder UW. Frequency of congenital nevi, nevi spili and cafe-au-lait spots and their relation to nevus count and skin complexion in 939 children. Dermatologica 1990;180:118-123.
    • (1990) Dermatologica , vol.180 , pp. 118-123
    • Sigg, C.1    Pelloni, F.2    Schnyder, U.W.3
  • 115
    • 0014412422 scopus 로고
    • Genetic susceptibility and somatic mutation in the production of freckles, birthmarks and moles
    • Nicholls EM. Genetic susceptibility and somatic mutation in the production of freckles, birthmarks and moles. Lancet (i), 1968;71-73.
    • (1968) Lancet , Issue.1 , pp. 71-73
    • Nicholls, E.M.1
  • 116
    • 0027323886 scopus 로고
    • Estradiol stimulates cortisol production by adrenal cells in estrogen-dependent primary adrenocortical nodular dysplasia
    • Caticha O, Odell WD, Wilson DE, Dowdell LA, Noth RH, Swislocki ALM. Estradiol stimulates cortisol production by adrenal cells in estrogen-dependent primary adrenocortical nodular dysplasia. J Clin Endocrinol Metab 1993;77:494-497.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 494-497
    • Caticha, O.1    Odell, W.D.2    De Wilson3    Dowdell, L.A.4    Noth, R.H.5    Swislocki, A.L.M.6
  • 117
    • 0026542367 scopus 로고
    • Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome
    • Fryer PR, Pope FM. Accumulation of membrane-bound melanosomes occurs in Langerhans cells of patients with the Leopard syndrome. Clin Exp Dermatol 1992;17:13-15.
    • (1992) Clin Exp Dermatol , vol.17 , pp. 13-15
    • Fryer, P.R.1    Pope, F.M.2
  • 118
    • 0029084742 scopus 로고
    • Quantative trait loci that modify the severity of spotting in piebald mice
    • Pavan WJ, Mac S, Cheng M, Tighman SM. Quantative trait loci that modify the severity of spotting in piebald mice. Genome Res 1995;5:29-41.
    • (1995) Genome Res , vol.5 , pp. 29-41
    • Pavan, W.J.1    Mac, S.2    Cheng, M.3    Tighman, S.M.4
  • 119
    • 0029094933 scopus 로고
    • Pigmentation, pleiotropy and genetic pathways in humans and mice
    • Barsh GS. Pigmentation, pleiotropy and genetic pathways in humans and mice. Am J Hum Genet 1995;53:743-747.
    • (1995) Am J Hum Genet , vol.53 , pp. 743-747
    • Barsh, G.S.1
  • 120
    • 0027674655 scopus 로고
    • From the crest to the periphery: Control of pigment cell migration and lineage segregation
    • Erickson CA. From the crest to the periphery: control of pigment cell migration and lineage segregation. Pigment Cell Res 1993;6:336-347.
    • (1993) Pigment Cell Res , vol.6 , pp. 336-347
    • Erickson, C.A.1
  • 121
    • 0030155850 scopus 로고    scopus 로고
    • Stem cell factor regulates the melanocyte cytoskeleton
    • Scott G, Liang H, Luthra D. Stem cell factor regulates the melanocyte cytoskeleton. Pigment Cell Res 1996;9:134-141.
    • (1996) Pigment Cell Res , vol.9 , pp. 134-141
    • Scott, G.1    Liang, H.2    Luthra, D.3
  • 122
    • 15844427770 scopus 로고    scopus 로고
    • Recombinant human stem cell factor (kit ligand) promotes human mast cell and melanocyte hyperplasia and functional activation in vivo
    • Costa JJ, Demetri GD, Harrist TJ, Dvorak AM, Hayes DF, Merica EA. Recombinant human stem cell factor (kit ligand) promotes human mast cell and melanocyte hyperplasia and functional activation in vivo. J Exp Med 1996;183:2681-2686.
    • (1996) J Exp Med , vol.183 , pp. 2681-2686
    • Costa, J.J.1    Demetri, G.D.2    Harrist, T.J.3    Dvorak, A.M.4    Hayes, D.F.5    Merica, E.A.6
  • 123
    • 0029741915 scopus 로고    scopus 로고
    • Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
    • Tachibana M, Takeda K, Nobukuni Y, Urabe K, Long JE, Meyers KA. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Nat Genet 1996;14:50-54.
    • (1996) Nat Genet , vol.14 , pp. 50-54
    • Tachibana, M.1    Takeda, K.2    Nobukuni, Y.3    Urabe, K.4    Long, J.E.5    Meyers, K.A.6
  • 124
    • 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. Endocrinology 1996;137:1509-1511.
    • (1996) Endocrinology , vol.137 , pp. 1509-1511
    • Gagel, R.F.1
  • 125
    • 0031971514 scopus 로고    scopus 로고
    • Molecular classification of the inherited hamartoma polyposis syndromes: Clearing the muddied waters
    • Eng C, Ji H. Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. Am J Hum Genet 1998;62:1020-1022.
    • (1998) Am J Hum Genet , vol.62 , pp. 1020-1022
    • Eng, C.1    Ji, H.2
  • 126
    • 0031442631 scopus 로고    scopus 로고
    • PTEN sometimes taking it off can be better than putting it on
    • Myers MP, Tonks NK. PTEN sometimes taking it off can be better than putting it on. Am J Hum Genet 1997;61;1234-1238.
    • (1997) Am J Hum Genet , vol.61 , pp. 1234-1238
    • Myers, M.P.1    Tonks, N.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.