-
1
-
-
0037709883
-
Von Hippel-Lindau disease
-
DOI 10.1016/S0140-6736(03)13643-4
-
Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM and Oldfield EH: Von Hippel-Lindau disease. Lancet 361: 2059-2067, 2003. (Pubitemid 36695052)
-
(2003)
Lancet
, vol.361
, Issue.9374
, pp. 2059-2067
-
-
Lonser, R.R.1
Glenn, G.M.2
Walther, M.3
Chew, E.Y.4
Libutti, S.K.5
Linehan, W.M.6
Oldfield, E.H.7
-
2
-
-
0036718539
-
Molecular basis of the VHL hereditary cancer syndrome
-
Kaelin WG Jr: Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2: 673-682, 2002.
-
(2002)
Nat Rev Cancer
, vol.2
, pp. 673-682
-
-
Kaelin Jr., W.G.1
-
3
-
-
0025741681
-
Von Hippel-Lindau disease: A genetic study
-
Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA and Morton N: Von Hippel-Lindau disease: a genetic study. J Med Genet 28: 443-447, 1991. (Pubitemid 21922636)
-
(1991)
Journal of Medical Genetics
, vol.28
, Issue.7
, pp. 443-447
-
-
Maher, E.R.1
Iselius, L.2
Yates, J.R.W.3
Littler, M.4
Benjamin, C.5
Harris, R.6
Sampson, J.7
Williams, A.8
Ferguson-Smith, M.A.9
Morton, N.10
-
5
-
-
0042913365
-
Pheochromocytoma: The expanding genetic differential diagnosis
-
Bryant J, Farmer J, Kessler LJ, Townsend RR and Nathanson KL: Pheochromocytoma: the expanding genetic differential diagnosis. J Natl Cancer Inst 95: 1196-2204, 2003.
-
(2003)
J Natl Cancer Inst
, vol.95
, pp. 1196-2204
-
-
Bryant, J.1
Farmer, J.2
Kessler, L.J.3
Townsend, R.R.4
Nathanson, K.L.5
-
6
-
-
7844234770
-
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene
-
DOI 10.1002/(SICI)1098-1004(1998)12:6417::AID-HUM
-
Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, Hurley K, Andrey C, Klausner R and Linehan WM: Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 12: 417-423, 1998. (Pubitemid 28512618)
-
(1998)
Human Mutation
, vol.12
, Issue.6
, pp. 417-423
-
-
Stolle, C.1
Glenn, G.2
Zbar, B.3
Humphrey, J.S.4
Choyke, P.5
Walther, M.6
Pack, S.7
Hurley, K.8
Andrey, C.9
Klausner, R.10
Marston, L.W.11
-
7
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
Freiburg-Warsaw-Columbus Pheochromocytoma Study Group
-
Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C and Eng C: Freiburg-Warsaw-Columbus Pheochromocytoma Study Group: Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346: 1459-1466, 2002.
-
(2002)
N Engl J Med
, vol.346
, pp. 1459-1466
-
-
Neumann, H.P.1
Bausch, B.2
McWhinney, S.R.3
Bender, B.U.4
Gimm, O.5
Franke, G.6
Schipper, J.7
Klisch, J.8
Altehoefer, C.9
Zerres, K.10
Januszewicz, A.11
Eng, C.12
Smith, W.M.13
Munk, R.14
Manz, T.15
Glaesker, S.16
Apel, T.W.17
Treier, M.18
Reineke, M.19
Walz, M.K.20
Hoang-Vu, C.21
Brauckhoff, M.22
Klein-Franke, A.23
Klose, P.24
Schmidt, H.25
Maier-Woelfle, M.26
Peczkowska, M.27
Szmigielski, C.28
Eng, C.29
more..
-
8
-
-
0028788184
-
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic pheochromocytomas
-
Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PL, O'Riordan JL, Toledo SP, Smith DP, Maher ER and Ponder BAJ: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic pheochromocytomas. J Med Genet 32: 934-937, 1995.
-
(1995)
J Med Genet
, vol.32
, pp. 934-937
-
-
Eng, C.1
Crossey, P.A.2
Mulligan, L.M.3
Healey, C.S.4
Houghton, C.5
Prowse, A.6
Chew, S.L.7
Dahia, P.L.8
O'Riordan, J.L.9
Toledo, S.P.10
Smith, D.P.11
Maher, E.R.12
Ponder, B.A.J.13
-
9
-
-
0035054565
-
Genotype-phenotype correlation in von Hippel-Lindau syndrome
-
Friedrich CA: Genotype-phenotype correlation in von Hippel-Lindau syndrome. Hum Mol Genet 10: 763-767, 2001.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 763-767
-
-
Friedrich, C.A.1
-
10
-
-
10744222427
-
Genetic Characterization and Structural Analysis of VHL Spanish Families to Define Genotype-Phenotype Correlations
-
DOI 10.1002/humu.10309
-
Ruiz-Llorente S, Bravo J, Cebrian A, Cascon A, Pollan M, Telleria D, Leton R, Urioste M, Rodriguez-Lopez R, De Campos JM, Munoz MJ, Lacambra C, Benitez J and Robledo M: Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. Hum Mutat 23: 160-169, 2004. (Pubitemid 38200606)
-
(2004)
Human Mutation
, vol.23
, Issue.2
, pp. 160-169
-
-
Ruiz-Llorente, S.1
Bravo, J.2
Cebrian, A.3
Cascon, A.4
Pollan, M.5
Telleria, D.6
Leton, R.7
Urioste, M.8
Rodriguez-Lopez, R.9
De Campos, J.M.10
Munoz, M.J.11
Lacambra, C.12
Benitez, J.13
Robledo, M.14
-
11
-
-
84880434854
-
Germline mutations of VHL gene in Korean von Hippel-Lindau disease patients
-
Shin KH, Park KJ, Kim SW, Lee SH, Lee SE, Jung HW, Kim HJ and Par JG: Germline mutations of VHL gene in Korean von Hippel-Lindau disease patients. J Korean Cancer Assoc 28: 544-554, 1996.
-
(1996)
J Korean Cancer Assoc
, vol.28
, pp. 544-554
-
-
Shin, K.H.1
Park, K.J.2
Kim, S.W.3
Lee, S.H.4
Lee, S.E.5
Jung, H.W.6
Kim, H.J.7
Par, J.G.8
-
12
-
-
0036187804
-
RET oligonucleotide microarray for the detection of RET mutations in multiple endocrine neoplasia type 2 syndromes
-
Kim IJ, Kang HC, Park JH, Ku JL, Lee JS, Kwon HJ, Yoon KA, Heo SC, Yang HY, Cho BY, Kim SY, Oh SK, Youn YK, Park DJ, Lee MS, Lee KW and Park JG: RET oligonucleotide microarray for the detection of RET mutations in multiple endocrine neoplasia type 2 syndromes. Clin Cancer Res 8: 457-463, 2002.
-
(2002)
Clin Cancer Res
, vol.8
, pp. 457-463
-
-
Kim, I.J.1
Kang, H.C.2
Park, J.H.3
Ku, J.L.4
Lee, J.S.5
Kwon, H.J.6
Yoon, K.A.7
Heo, S.C.8
Yang, H.Y.9
Cho, B.Y.10
Kim, S.Y.11
Oh, S.K.12
Youn, Y.K.13
Park, D.J.14
Lee, M.S.15
Lee, K.W.16
Park, J.G.17
-
13
-
-
0028235907
-
Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas
-
Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, Nagashima Y, Kitamura H, Latif F, Zbar B, Lerman MI and Yao M: Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res 54: 2852-2855, 1994.
-
(1994)
Cancer Res
, vol.54
, pp. 2852-2855
-
-
Shuin, T.1
Kondo, K.2
Torigoe, S.3
Kishida, T.4
Kubota, Y.5
Hosaka, M.6
Nagashima, Y.7
Kitamura, H.8
Latif, F.9
Zbar, B.10
Lerman, M.I.11
Yao, M.12
-
14
-
-
0032847832
-
Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene
-
DOI 10.1007/s004390051110
-
Cybulski C, Krzystolik K, Maher ER, Richard S, Kurzawski G, Gronwald J and Lubinski J: Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor gene. Hum Genet 105: 333-336, 1999. (Pubitemid 29476284)
-
(1999)
Human Genetics
, vol.105
, Issue.4
, pp. 333-336
-
-
Cybulski, C.1
Krzystolik, K.2
Maher, E.R.3
Richard, S.4
Kurzawski, G.5
Gronwald, J.6
Lubinski, J.7
-
15
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
DOI 10.1086/321282
-
Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C and Maher ER: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69: 49-54, 2001. (Pubitemid 32614017)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.1
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
Dahia, P.L.M.4
Douglas, F.5
George, E.6
Skoldberg, F.7
Husebye, E.S.8
Eng, C.9
Maher, E.R.10
-
16
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
DOI 10.1126/science.287.5454.848
-
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW III, Cornelisse CJ, Devilee P and Devlin B: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287: 848-851, 2000. (Pubitemid 30084326)
-
(2000)
Science
, vol.287
, Issue.5454
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
Van Der, M.A.7
Taschner, P.E.M.8
Rubinstein, W.S.9
Myers, E.N.10
Richard III, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
17
-
-
0027986502
-
Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
-
Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, Neumann HP, Laidlaw J and Li FP: Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 55: 1092-1102, 1994. (Pubitemid 24355562)
-
(1994)
American Journal of Human Genetics
, vol.55
, Issue.6
, pp. 1092-1102
-
-
Whaley, J.M.1
Naglich, J.2
Gelbert, L.3
Hsia, Y.E.4
Lamiell, J.M.5
Green, J.S.6
Collins, D.7
Neumann, H.P.H.8
Laidlaw, J.9
Li, F.P.10
Klein-Szanto, A.J.P.11
Seizinger, B.R.12
Kley, N.13
-
18
-
-
0028587585
-
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, Fleming S, Hulsbeek MM, Crossey PA, Richards FM, Cairns P, Affara NA and Ferguson-Smith MA: Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 3: 2169-2173, 1994.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2169-2173
-
-
Foster, K.1
Prowse, A.2
Van Den Berg, A.3
Fleming, S.4
Hulsbeek, M.M.5
Crossey, P.A.6
Richards, F.M.7
Cairns, P.8
Affara, N.A.9
Ferguson-Smith, M.A.10
-
19
-
-
0030880947
-
Allelic deletion and mutation of the von Hippel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas
-
Vortmeyer AO, Lubensky IA, Fogt F, Linehan WM, Khettry U and Zhuang Z: Allelic deletion and mutation of the von Hipppel-Lindau (VHL) tumor suppressor gene in pancreatic microcystic adenomas. Am J Pathol 151: 951-956, 1997. (Pubitemid 27424304)
-
(1997)
American Journal of Pathology
, vol.151
, Issue.4
, pp. 951-956
-
-
Vortmeyer, A.O.1
Lubensky, I.A.2
Fogt, F.3
Linehan, W.M.4
Khettry, U.5
Zhuang, Z.6
-
20
-
-
0029940856
-
Phenotypic expression in von Hippel-Lindau disease: Correlations with germline VHL gene mutations
-
Maher ER, Webster AR, Richards FM, Green JS, Crossey PA, Payne SJ and Moore AT: Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 33: 328-332, 1996. (Pubitemid 26102462)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.4
, pp. 328-332
-
-
Maher, E.R.1
Webster, A.R.2
Richards, F.M.3
Green, J.S.4
Crossey, P.A.5
Payne, S.J.6
Moore, A.T.7
-
21
-
-
0035336706
-
Von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF
-
Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M and Kaelin WG Jr: von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 10: 1019-1027, 2001. (Pubitemid 32447779)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.10
, pp. 1019-1027
-
-
Hoffman, M.A.1
Ohh, M.2
Yang, H.3
Klco, J.M.4
Ivan, M.5
Kaelin Jr., W.G.6
-
22
-
-
0028788972
-
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma
-
Crossey PA, Eng C, Ginalska-Malinowska M, Lennard TW, Wheeler DC, Ponder BA and Maher ER: Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet 32: 885-886, 1995.
-
(1995)
J Med Genet
, vol.32
, pp. 885-886
-
-
Crossey, P.A.1
Eng, C.2
Ginalska-Malinowska, M.3
Lennard, T.W.4
Wheeler, D.C.5
Ponder, B.A.6
Maher, E.R.7
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