Von Hippel-Lindau (VHL) disease: distinct phenotypes suggest more than one mutant allele at the VHL locus (original) (raw)
References
Atuk NO, McDonald T, Wood T, Carpenter JT, Walzak MP, Donaldson M, Gillenwater JY (1979) Familial pheochromocytoma, hypercalcemia and von Hippel-Lindau disease: a ten year study of a large family. Medicine 58:209–218 Google Scholar
Choyke PL, Filling-Katz MR, Shawker TH, Gorin MB, Travis WD, Chang R, Scizinger B, Linehan WM (1990) Radiologic screening for visceral manifestations of von Hippel-Lindau disease. Genitourin Radiol 174:815–820 Google Scholar
Filling-Katz MR, Choyke PL, Patronas NJ, Gorin M, Oldfield EH, Barba D, Chang R, Doppmann JL, Scizinger B (1989) Radiologic screening of von Hippel-Lindau disease: the role of MRI in the central nervous system. J Comput Tomogr 13:743–755 Google Scholar
Glenn GM, Choyke P, Zbar B, Linehan WM (1990) Von Hippel-Lindau disease: clinical review and molecular genetics. Probl Urol 4:312–330 Google Scholar
Glushein AS, Mansuy MM, Littman DS (1953) Pheochromocytoma: its relationship to neurocutaneous syndromes. Am J Med 14:318–327 Google Scholar
Green JS, Bowmer MI, Johnson GJ (1986) Von Hippel-Lindau disease in a Newfoundland kindred. Can Med Assoc J 134:133–138 Google Scholar
Green JS, Bale AE, Marx SJ, Farid NR (1990) Clinical phenotype and linkage analysis of prolactinoma variant of multiple endocrine neoplasia type 1 (MEN-1 BURIN) Am J Hum Genet 47:A218 Google Scholar
Horton WA, Wong V, Eldredge R (1976) Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 136:769–777 Google Scholar
Hosoe S, Brauch H, Latif F, Glenn G, Daniel L, Bale S, Choyke P, Gorin M, Oldfield E, Berman A, Goodman J, Orcutt ML, Hampsch K, Delisio J, Modi W, McBride W, Anglard P, Weiss G, Walther M, Linehan WM, Lerman MI, Zbar B (1991) Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3. Genomics 8:634–640 Google Scholar
Jackson CE, Norum RA, Lafreniere RG, O'Neil LW, Nikolai TF, Delaney JP, Sisson JC, Sobol H, Lenoir GM, Ponder BAJ, Willard HF (1990) Update on linkage of the multiple endocrine neoplasia type 2b gene (MEN2B) to chromosome 10 markers linked to MEN2A. Am Soc Hum Genet 47:A10 (Suppl) Google Scholar
Lamiell JM, Salazar FG, Hsia YE (1989) Von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine 68:1–29 Google Scholar
Leppert M, Burt R, Hughes JP, Samowitz W, Nakamura Y, Woodward S, Gardner E, Lalouel J-M, White R (1990) Genetic analysis of an inherited predisposition to colon cancer in a family with a variable number of adenomatous polyps. N Engl J Med 322:904–908 Google Scholar
Lowden BA, Harris GS (1976) Pheochromocytoma and von Hippel-Lindau disease. Can J Ophthalmol 11:282–288 Google Scholar
Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA (1990) Clinical features and natural history of von Hippel-Lindau disease. Q J Med 77:1151–1163 Google Scholar
Melmon KL, Rosen SW (1964) Lindau's disease: review of the literature and study of a large kindred. Am J Med 36:595–617 Google Scholar
Nakamura Y, Lathrop M, Leppert M, Dobbs M, Wasmuth J, Wolff E, Carlson M, Fujimoto E, Krapacho K, Sears T, Woodward S, Hughes J, Burt R, Gardner E, Laloel J-M, White R (1988) Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet 43:638–644 Google Scholar
Narod SA, Sobol H, Nakamura Y, Calmettes C, Baulieu J-L, Bigorgne J-C, Chabrier G, Couette J, Gennes J-L de, Duprey J, Gardet P, Guillausseau P-J, Guilloteau D, Houdent C, Lefebvre J, Modigliani E, Parmentier C, Pugeat M, Siame C, Tourniaire J, Vandroux J-C, Vinot J-M, Lenoir GM (1989) Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma. Hum Genet 83:353–358 Google Scholar
Ott J (1985) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore, Md Google Scholar
Scizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GH, Lamiell JM, Haines J, Yuen JWM, Collins D, Majoor-Krakauer D, Bonner T, Mathew C, Rubenstein A, Halperin J, McConkie-Rosell A, Green JS, Trofatter JA, Ponder BA, Eierman L, Bowmer MI, Schimke R, Oostra B, Aronin N, Smith DI, Drabkin H, Waziri MW, Hobbs WJ, Martuza RL, Conneally PM, Hsia YE, Gusella JF (1988) Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332:268–269 CASPubMed Google Scholar
Sharp WV, Platt RI (1971) Familial pheochromocytoma: association with von Hippel-Lindau disease. Angiology 22:141–146 Google Scholar
Sinchai P (1977) Office fluorescein angioscopy. Ann Ophthalmol 9:177 Google Scholar
Tory K, Brauch H, Llnehan M, Barba D, Oldfield E, Filling-Katz M, Scizinger B, Nakamura Y, White R, Marshall FF, Lerman MI, Zbar B (1989) Specific genetic changes in tumors associated with von Hippel-Lindau disease. J Natl Cancer Inst 81:1097–1101 Google Scholar
Vance JM, Small KW, Jones MA, Stajich JM, Yamaoka LH, Roses AD, Hung W-Y, Periak-Vance MA (1990) Confirmation of linkage in von Hippel-Lindau disease. Genomics 6:565–566 Google Scholar
Welch RM (1970) Von Hippel-Lindau disease: the recognition and early treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy. Trans Am Ophthalmol Soc 68:367–424 Google Scholar