메뉴 건너뛰기




Volumn 19, Issue 3, 1998, Pages 123-130

The two-stage mutation model in retinal hemangioblastoma

Author keywords

Germline mutation; Retinal hemangioblastoma; Somatic mutation; Von Hippel Lindau disease

Indexed keywords

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; DISEASE ASSOCIATION; FEMALE; HEMANGIOBLASTOMA; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; RETINOBLASTOMA; SCHOOL CHILD; SOMATIC MUTATION; STATISTICS; TUMOR SUPPRESSOR GENE; VON HIPPEL LINDAU DISEASE;

EID: 0031768214     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.19.3.123.2185     Document Type: Article
Times cited : (30)

References (58)
  • 1
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971;68:820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 2
    • 0015295131 scopus 로고
    • Mutation and cancer: A model for Wilms' tumor of the kidney
    • Knudson AG Jr., Strong LC. Mutation and cancer: a model for Wilms' tumor of the kidney. J Natl Cancer Inst 1972;48:313-324.
    • (1972) J Natl Cancer Inst , vol.48 , pp. 313-324
    • Knudson Jr., A.G.1    Strong, L.C.2
  • 3
    • 0015402175 scopus 로고
    • Mutation and cancer: Neuroblastoma and pheochromocytoma
    • Knudson AG Jr., Strong LC. Mutation and cancer: neuroblastoma and pheochromocytoma. Am J Hum Genet 1972;24:514-532.
    • (1972) Am J Hum Genet , vol.24 , pp. 514-532
    • Knudson Jr., A.G.1    Strong, L.C.2
  • 4
    • 0025000210 scopus 로고
    • Clinical features and natural history of von Hippel-Lindau disease
    • Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;283:1151-1163.
    • (1990) Q J Med , vol.283 , pp. 1151-1163
    • Maher, E.R.1    Yates, J.R.W.2    Harries, R.3
  • 5
    • 0025314788 scopus 로고
    • Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma
    • Maher ER, Yates JRW, Ferguson-Smith MA. Statistical analysis of the two stage mutation model in von Hippel-Lindau disease, and in sporadic cerebellar haemangioblastoma and renal cell carcinoma. J Med Genet 1990;27:311-314.
    • (1990) J Med Genet , vol.27 , pp. 311-314
    • Maher, E.R.1    Yates, J.R.W.2    Ferguson-Smith, M.A.3
  • 7
    • 0027240519 scopus 로고
    • Identification of the von Hippel-Lindau disease tumor suppressor gene
    • Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-1320.
    • (1993) Science , vol.260 , pp. 1317-1320
    • Latif, F.1    Tory, K.2    Gnarra, J.3
  • 8
    • 0025741681 scopus 로고
    • Von Hippel-Lindau disease: A genetic study
    • Maher ER, Iselius L, Yates JRW, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991;28:443-447.
    • (1991) J Med Genet , vol.28 , pp. 443-447
    • Maher, E.R.1    Iselius, L.2    Yates, J.R.W.3
  • 9
    • 0019383093 scopus 로고
    • Renal mass in a man with von Hippel-Lindau disease
    • Anonymous. Renal mass in a man with von Hippel-Lindau disease. Am J Med 1981;71:287-297.
    • (1981) Am J Med , vol.71 , pp. 287-297
  • 10
    • 0025301394 scopus 로고
    • Hemodynamic changes after ruthenium irradiation of Hippel's angiomatosis
    • Balázs E, Berta A, Rózsa L, Kolozsvári L, Rigó G. Hemodynamic changes after ruthenium irradiation of Hippel's angiomatosis. Ophthalmologica 1990;200:128-132.
    • (1990) Ophthalmologica , vol.200 , pp. 128-132
    • Balázs, E.1    Berta, A.2    Rózsa, L.3    Kolozsvári, L.4    Rigó, G.5
  • 11
    • 14744280655 scopus 로고
    • Photocoagulation treatment of angiomatosis retinae
    • Baras I, Harris S, Galin MA. Photocoagulation treatment of angiomatosis retinae. Am J Ophthalmol 1964;58:296-299.
    • (1964) Am J Ophthalmol , vol.58 , pp. 296-299
    • Baras, I.1    Harris, S.2    Galin, M.A.3
  • 13
    • 0026150435 scopus 로고
    • Von Hippel-Lindau disease
    • Burk RR. Von Hippel-Lindau disease. J Am Optom Assoc 1991;62:382-388.
    • (1991) J Am Optom Assoc , vol.62 , pp. 382-388
    • Burk, R.R.1
  • 14
    • 0021266777 scopus 로고
    • Metastatic islet cell tumor in von Hippel-Lindau disease
    • Cornish D, Pont A, Minor D, et al. Metastatic islet cell tumor in von Hippel-Lindau disease. Am J Med 1984;77:147-150.
    • (1984) Am J Med , vol.77 , pp. 147-150
    • Cornish, D.1    Pont, A.2    Minor, D.3
  • 16
    • 0026717646 scopus 로고
    • Retinal hemangioblastoma: A histologic, immunohistochemical, and ultrastructural evaluation
    • Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett WH 3rd. Retinal hemangioblastoma: a histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology 1992;99:140-145.
    • (1992) Ophthalmology , vol.99 , pp. 140-145
    • Grossniklaus, H.E.1    Thomas, J.W.2    Vigneswaran, N.3    Jarrett III, W.H.4
  • 17
    • 0014276189 scopus 로고
    • Cerebral hemangioblastoma occuring in a patient with von Hippel-Lindau disease. Case report
    • Hoff JT, Ray BS. Cerebral hemangioblastoma occuring in a patient with von Hippel-Lindau disease. Case report. J Neurosurg 1968;28:365-368.
    • (1968) J Neurosurg , vol.28 , pp. 365-368
    • Hoff, J.T.1    Ray, B.S.2
  • 18
    • 0017155917 scopus 로고
    • Von Hippel-Lindau disease: Clinical and pathological manifestations in nine families with 50 affected members
    • Horton WA, Wong V, Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 1976;136:769-777.
    • (1976) Arch Intern Med , vol.136 , pp. 769-777
    • Horton, W.A.1    Wong, V.2    Eldridge, R.3
  • 19
    • 0022970703 scopus 로고
    • Cerebellar haemangioblastoma and von Hippel-Lindau disease
    • Huson SM, Harper PS, Hourihan MD, et al. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain 1986;109:1297-1310.
    • (1986) Brain , vol.109 , pp. 1297-1310
    • Huson, S.M.1    Harper, P.S.2    Hourihan, M.D.3
  • 20
    • 0021929170 scopus 로고
    • Histogenesis of haemangioblastomas: An immunocytochemical and ultrastructural study in a case of von Hippel-Lindau syndrome
    • Ismail SM, Jasani B, Cole G. Histogenesis of haemangioblastomas: an immunocytochemical and ultrastructural study in a case of von Hippel-Lindau syndrome. J Clin Pathol 1985;38:417-421.
    • (1985) J Clin Pathol , vol.38 , pp. 417-421
    • Ismail, S.M.1    Jasani, B.2    Cole, G.3
  • 21
    • 0023883694 scopus 로고
    • Von Hippel-Lindau disease in a large British family: Clinicopathological features and recommendations for screening and followup
    • Jennings AM, Smith C, Cole DR, et al. Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and followup. Q J Med 1988;66:233-249.
    • (1988) Q J Med , vol.66 , pp. 233-249
    • Jennings, A.M.1    Smith, C.2    Cole, D.R.3
  • 23
    • 0003378695 scopus 로고
    • Von Hippel-Lindau disease
    • Joe S, Spencer WH. Von Hippel-Lindau disease. Arch Ophthalmol 1964;71:508-509.
    • (1964) Arch Ophthalmol , vol.71 , pp. 508-509
    • Joe, S.1    Spencer, W.H.2
  • 24
    • 0022384818 scopus 로고
    • Multicentric hemangioblastomas in the cerebellum
    • Kawano T, Iwamoto K, Mori K, Matsuse E. Multicentric hemangioblastomas in the cerebellum. Surg Neurol 1985;24:677-680.
    • (1985) Surg Neurol , vol.24 , pp. 677-680
    • Kawano, T.1    Iwamoto, K.2    Mori, K.3    Matsuse, E.4
  • 26
    • 0024084255 scopus 로고
    • A case of Von Hippel-Lindau disease associated with bilateral renal cell carcinoma
    • Komatsu K, Misaki T, Hisazumi H, et al. A case of Von Hippel-Lindau disease associated with bilateral renal cell carcinoma. Acta Urol Jpn 1988;34:1621-1625.
    • (1988) Acta Urol Jpn , vol.34 , pp. 1621-1625
    • Komatsu, K.1    Misaki, T.2    Hisazumi, H.3
  • 27
    • 0024493153 scopus 로고
    • Von Hippel-Lindau disease affecting 43 members of a single kindred
    • Baltimore
    • Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 1989;68:1-29.
    • (1989) Medicine , vol.68 , pp. 1-29
    • Lamiell, J.M.1    Salazar, F.G.2    Hsia, Y.E.3
  • 28
    • 0023930513 scopus 로고
    • Pathogenesis and therapy of traction detachment in various retinal vascular diseases
    • Machemer R, Williams JM, Sr. Pathogenesis and therapy of traction detachment in various retinal vascular diseases. Am J Ophthalmol 1988;105:170-181.
    • (1988) Am J Ophthalmol , vol.105 , pp. 170-181
    • Machemer, R.1    Williams Sr., J.M.2
  • 29
    • 0014919658 scopus 로고
    • Von Hippel Lindau's disease of the optic disc
    • MacMichael IM. Von Hippel Lindau's disease of the optic disc. Trans Ophthalmol Soc UK 1970;90:877-885.
    • (1970) Trans Ophthalmol Soc UK , vol.90 , pp. 877-885
    • MacMichael, I.M.1
  • 31
    • 0022586705 scopus 로고
    • Supratentorial hemangioblastoma associated with Von Hippel Lindau disease: Case report and review of the literature
    • Miller MH, Tucker WS, Bilbao JM. Supratentorial hemangioblastoma associated with Von Hippel Lindau disease: case report and review of the literature. Can Assoc Radiol J 1986;37:35-37.
    • (1986) Can Assoc Radiol J , vol.37 , pp. 35-37
    • Miller, M.H.1    Tucker, W.S.2    Bilbao, J.M.3
  • 32
    • 0020686167 scopus 로고
    • Von Hippel-Lindau disease. Apropos of a case with parapapillary and retinal double localization
    • Navarre L, Mercadier B, Frerebeau P, et al. Von Hippel-Lindau disease. Apropos of a case with parapapillary and retinal double localization. Bull Soc Ophtalmol Fr 1983;83:79-81.
    • (1983) Bull Soc Ophtalmol Fr , vol.83 , pp. 79-81
    • Navarre, L.1    Mercadier, B.2    Frerebeau, P.3
  • 33
    • 0022628601 scopus 로고
    • Rhegmatogenous retinal detachment in angiomatosis retinae
    • Nicholson DH, Anderson LS, Blodi C. Rhegmatogenous retinal detachment in angiomatosis retinae. Am J Ophthalmol 1986;101:187-189.
    • (1986) Am J Ophthalmol , vol.101 , pp. 187-189
    • Nicholson, D.H.1    Anderson, L.S.2    Blodi, C.3
  • 34
    • 0017157737 scopus 로고
    • Light and electron microscopic study of early lesions in angiomatosis retinae
    • Nicholson DH, Green WR, Kenyon KR. Light and electron microscopic study of early lesions in angiomatosis retinae. Am J Ophthalmol 1976;82:193-204.
    • (1976) Am J Ophthalmol , vol.82 , pp. 193-204
    • Nicholson, D.H.1    Green, W.R.2    Kenyon, K.R.3
  • 35
    • 0024609410 scopus 로고
    • Pheochromocytoma in Von Hippel Lindau disease. Apropos of a case of peri-operative presentation
    • Potier F, Brasdfer D, Castier P, et al. Pheochromocytoma in Von Hippel Lindau disease. Apropos of a case of peri-operative presentation. Bull Soc Ophtalmol Fr 1989;89:251-252.
    • (1989) Bull Soc Ophtalmol Fr , vol.89 , pp. 251-252
    • Potier, F.1    Brasdfer, D.2    Castier, P.3
  • 36
    • 0016677105 scopus 로고
    • Clinical feature and histopathology of v. Hippel-Lindau's disease
    • Pulhorn G, Fauth E. Clinical feature and histopathology of v. Hippel-Lindau's disease. Klin Monatsbl Augenheilkd 1975;167:884-891.
    • (1975) Klin Monatsbl Augenheilkd , vol.167 , pp. 884-891
    • Pulhorn, G.1    Fauth, E.2
  • 37
    • 0014668999 scopus 로고
    • Von Hippel-Lindau's disease: A report of five cases
    • Rho YM. Von Hippel-Lindau's disease: a report of five cases. Can Med Assoc J 1969;101:135-142.
    • (1969) Can Med Assoc J , vol.101 , pp. 135-142
    • Rho, Y.M.1
  • 38
    • 0022828267 scopus 로고
    • Retinal angiomatosis: The ocular manifestations of von Hippel-Lindau disease
    • Ridley M, Green J, Johnson G. Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. Can J Ophthalmol 1986;21:276-283.
    • (1986) Can J Ophthalmol , vol.21 , pp. 276-283
    • Ridley, M.1    Green, J.2    Johnson, G.3
  • 39
    • 0018833090 scopus 로고
    • Early identification of retinal angiomas in a large kindred von Hippel-Lindau disease
    • Salazar FG, Lamiell JM. Early identification of retinal angiomas in a large kindred von Hippel-Lindau disease. Am J Ophthalmol 1980;89:540-545.
    • (1980) Am J Ophthalmol , vol.89 , pp. 540-545
    • Salazar, F.G.1    Lamiell, J.M.2
  • 40
    • 0014917920 scopus 로고
    • Pheochromocytoma associated with von Hippel-Lindau's disease in a family
    • Sander S, Normann T, Mathisen W. Pheochromocytoma associated with von Hippel-Lindau's disease in a family. Scand J Urol Nephrol 1970;4:259-263.
    • (1970) Scand J Urol Nephrol , vol.4 , pp. 259-263
    • Sander, S.1    Normann, T.2    Mathisen, W.3
  • 41
    • 0015024470 scopus 로고
    • Familial pheochromocytoma. Association with von Hippel-Lindau's disease
    • Sharp WV, Platt RL. Familial pheochromocytoma. Association with von Hippel-Lindau's disease. Angiology 1971;22:141-146.
    • (1971) Angiology , vol.22 , pp. 141-146
    • Sharp, W.V.1    Platt, R.L.2
  • 42
    • 0014798834 scopus 로고
    • Von Hippel-Lindau syndrome: A report on three kindreds
    • Shokeir MH. Von Hippel-Lindau syndrome: a report on three kindreds. J Med Genet 1970;7:155-157.
    • (1970) J Med Genet , vol.7 , pp. 155-157
    • Shokeir, M.H.1
  • 43
    • 0000492351 scopus 로고
    • Vorstellung eines Patienten mit einer sehr ungewöhnlichen Netzhaut
    • Heidelberg, Bergmann, Wiesbaden
    • von Hippel E. Vorstellung eines Patienten mit einer sehr ungewöhnlichen Netzhaut. XXIV Vorstellung der ophthalmologischen Gesellschaft, Heidelberg, 1895, Bergmann, Wiesbaden, 1896; 269 p.
    • (1895) XXIV Vorstellung der Ophthalmologischen Gesellschaft
    • Von Hippel, E.1
  • 44
    • 0022913655 scopus 로고
    • Von Hippel-Lindau disease: Case report of a patient with spontaneous regression of a retinal angioma
    • Whitson JT, Welch RB, Green WR. Von Hippel-Lindau disease: case report of a patient with spontaneous regression of a retinal angioma. Retina 1986;6:253-259.
    • (1986) Retina , vol.6 , pp. 253-259
    • Whitson, J.T.1    Welch, R.B.2    Green, W.R.3
  • 45
    • 0019849311 scopus 로고
    • Von Hippel-Lindau disease: Angiomatosis of the retina and central nervous system
    • Wing GL, Weiter JJ, Kelly PJ, et al. Von Hippel-Lindau disease: angiomatosis of the retina and central nervous system. Ophthalmology 1981;88:1311-1314.
    • (1981) Ophthalmology , vol.88 , pp. 1311-1314
    • Wing, G.L.1    Weiter, J.J.2    Kelly, P.J.3
  • 46
    • 0023741443 scopus 로고
    • Hemangiomalike masses of the retina
    • Campochiaro PA, Conway BP. Hemangiomalike masses of the retina. Arch Ophthalmol 1988;106:1409-1413.
    • (1988) Arch Ophthalmol , vol.106 , pp. 1409-1413
    • Campochiaro, P.A.1    Conway, B.P.2
  • 47
    • 0013874413 scopus 로고
    • Peripheral retinal angioma with exudative retinopathy in adults (Coats's lesion)
    • Henkind P, Morgan G. Peripheral retinal angioma with exudative retinopathy in adults (Coats's lesion). Br J Ophthalmol 1966;50:2-11.
    • (1966) Br J Ophthalmol , vol.50 , pp. 2-11
    • Henkind, P.1    Morgan, G.2
  • 48
    • 0017173309 scopus 로고
    • Angiomatosis retinae. An ultrastructural study and lipid analysis
    • Jakobiec FA, Font RL, Johnson FB. Angiomatosis retinae. An ultrastructural study and lipid analysis. Cancer 1976;38:2042-2056.
    • (1976) Cancer , vol.38 , pp. 2042-2056
    • Jakobiec, F.A.1    Font, R.L.2    Johnson, F.B.3
  • 50
    • 0025181257 scopus 로고
    • Management of macular pucker associated with retinal angiomas
    • Schwarz PL, Fastenberg DM, Shakin JL. Management of macular pucker associated with retinal angiomas. Ophthalmic Surgery 1990;21:550-556.
    • (1990) Ophthalmic Surgery , vol.21 , pp. 550-556
    • Schwarz, P.L.1    Fastenberg, D.M.2    Shakin, J.L.3
  • 53
    • 0002058311 scopus 로고
    • Studien über Kleinhirnzystern. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae
    • Lindau, A. Studien über Kleinhirnzystern. Bau, Pathogenese und Beziehungen zur Angiomatosis retinae. Acta Pathol Microbiol Scand 1926;1(supp):1-128.
    • (1926) Acta Pathol Microbiol Scand , vol.1 , Issue.SUPPL. , pp. 1-128
    • Lindau, A.1
  • 54
    • 0027198714 scopus 로고
    • Das Von-Hippel-Lindau Syndrom
    • Neumann HPH. Das Von-Hippel-Lindau Syndrom. Pathologe 1993;14:150-157.
    • (1993) Pathologe , vol.14 , pp. 150-157
    • Neumann, H.P.H.1
  • 55
    • 0023630505 scopus 로고
    • Basic criteria for clinical diagnosis and genetic counseling in von Hippel-Lindau syndrome
    • Neumann HPH. Basic criteria for clinical diagnosis and genetic counseling in von Hippel-Lindau syndrome. VASA 1987;16:220-226.
    • (1987) VASA , vol.16 , pp. 220-226
    • Neumann, H.P.H.1
  • 56
    • 0028206618 scopus 로고
    • Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier
    • Davies DR, Noeman AM, Whitehouse RW, Evans DGR. Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier. Clin Genet 1994;45:104-106.
    • (1994) Clin Genet , vol.45 , pp. 104-106
    • Davies, D.R.1    Noeman, A.M.2    Whitehouse, R.W.3    Evans, D.G.R.4
  • 57
    • 0028587585 scopus 로고
    • Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma
    • Foster K, Prowse A, van den Berg A, et al. Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 1994;3:2169-2173.
    • (1994) Hum Mol Genet , vol.3 , pp. 2169-2173
    • Foster, K.1    Prowse, A.2    Van Den Berg, A.3
  • 58
    • 0029057487 scopus 로고
    • Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma
    • Zeiger MA, Zbar B, Keiser H, et al. Loss of heterozygosity on the short arm of chromosome 3 in sporadic, von Hippel-Lindau disease-associated, and familial pheochromocytoma. Genes Chromosomes Cancer 1995;13:151-156.
    • (1995) Genes Chromosomes Cancer , vol.13 , pp. 151-156
    • Zeiger, M.A.1    Zbar, B.2    Keiser, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.