-
1
-
-
0025741681
-
Von Hippel-Lindau disease: A genetic study
-
Maher ER, 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
-
2
-
-
0028981766
-
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype
-
Chen F, et al: Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995; 5: 66-75.
-
(1995)
Hum Mutat
, vol.5
, pp. 66-75
-
-
Chen, F.1
-
3
-
-
0025000210
-
Clinical features and natural history of von Hippel-Lindau disease
-
Maher ER, et al: Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990; 77: 1151-1163.
-
(1990)
Q J Med
, vol.77
, pp. 1151-1163
-
-
Maher, E.R.1
-
5
-
-
0027168746
-
Mapping the von Hippel-Lindau disease tumour suppressor gene: Identification of germline deletions by pulsed field gel electrophoresis
-
Richards FM, et al: Mapping the von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum Mol Genet 1993; 2: 879-882.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 879-882
-
-
Richards, F.M.1
-
6
-
-
79956317112
-
Von Hippel-Lindau disease: A clinical and scientific review
-
Maher ER, Neumann HP, Richard S: von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19: 617-623.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 617-623
-
-
Maher, E.R.1
Neumann, H.P.2
Richard, S.3
-
7
-
-
2642601107
-
Software and database for the analysis of mutations in the VHL gene
-
Beroud C, et al: Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 1998; 26: 256-258.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 256-258
-
-
Beroud, C.1
-
8
-
-
0028789039
-
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene
-
Richards FM, et al: Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 1995; 4: 2139-2143.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2139-2143
-
-
Richards, F.M.1
-
9
-
-
84860272197
-
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: Suggesting the higher frequency of de novo mutations in VHL gene in these patients
-
Wu P, et al: Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. J Hum Genet 2012; 57: 238-243.
-
(2012)
J Hum Genet
, vol.57
, pp. 238-243
-
-
Wu, P.1
-
10
-
-
0028030581
-
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype
-
Crossey PA, et al: Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 1994; 3: 1303-1308.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1303-1308
-
-
Crossey, P.A.1
-
11
-
-
66749173514
-
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients
-
Franke G, et al: Alu-Alu recombination underlies the vast majority of large VHL germline deletions: molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat 2009; 30: 776-786.
-
(2009)
Hum Mutat
, vol.30
, pp. 776-786
-
-
Franke, G.1
-
12
-
-
70349495302
-
Genotype-phenotype correlations in VHL exon deletions
-
McNeill A, et al: Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A 2009; 149A:2147-2151.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 2147-2151
-
-
McNeill, A.1
-
13
-
-
0029926989
-
Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis
-
Richards FM, et al: Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis. Hum Mol Genet 1996; 5: 639-644.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 639-644
-
-
Richards, F.M.1
-
14
-
-
27544477748
-
The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing
-
Kaelin WG Jr: The von Hippel-Lindau protein, HIF hydroxylation, and oxygen sensing. Biochem Biophys Res Commun 2005; 338: 627-638.
-
(2005)
Biochem Biophys Res Commun
, vol.338
, pp. 627-638
-
-
Kaelin, W.G.1
-
15
-
-
0029147430
-
Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C
-
Kibel A, et al: Binding of the von Hippel-Lindau tumor suppressor protein to elongin B and C. Science 1995; 269: 1444-1446.
-
(1995)
Science
, vol.269
, pp. 1444-1446
-
-
Kibel, A.1
-
16
-
-
0032727343
-
The Rbx1 subunit of SCF and VHL E3 ubiquitin ligase activates Rub1 modification of cullins Cdc53 and Cul2
-
Kamura T, et al: The Rbx1 subunit of SCF and VHL E3 ubiquitin ligase activates Rub1 modification of cullins Cdc53 and Cul2. Genes Dev 1999; 13: 2928-2933.
-
(1999)
Genes Dev
, vol.13
, pp. 2928-2933
-
-
Kamura, T.1
-
17
-
-
0033574737
-
Structure of the VHL-ElonginC-ElonginB complex: Implications for VHL tumor suppressor function
-
Stebbins CE, Kaelin WG Jr, Pavletich NP: Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. Science 1999; 284: 455-461.
-
(1999)
Science
, vol.284
, pp. 455-461
-
-
Stebbins, C.E.1
Kaelin, W.G.2
Pavletich, N.P.3
-
18
-
-
0033565672
-
The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity
-
Lisztwan J, et al: The von Hippel-Lindau tumor suppressor protein is a component of an E3 ubiquitin-protein ligase activity. Genes Dev 1999; 13: 1822-1833.
-
(1999)
Genes Dev
, vol.13
, pp. 1822-1833
-
-
Lisztwan, J.1
-
19
-
-
54549113030
-
The von Hippel-Lindau tumour suppressor protein: O 2 sensing and cancer
-
Kaelin WG Jr: The von Hippel-Lindau tumour suppressor protein: O 2 sensing and cancer. Nat Rev Cancer 2008; 8: 865-873.
-
(2008)
Nat Rev Cancer
, vol.8
, pp. 865-873
-
-
Kaelin, W.G.1
-
20
-
-
34948883495
-
PVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2
-
Yang H, et al: pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2. Mol Cell 2007; 28: 15-27.
-
(2007)
Mol Cell
, vol.28
, pp. 15-27
-
-
Yang, H.1
-
21
-
-
53349162212
-
Jade-1 inhibits Wnt signalling by ubiquitylating beta-catenin and mediates Wnt pathway inhibition by pVHL
-
Chitalia VC, et al: Jade-1 inhibits Wnt signalling by ubiquitylating beta-catenin and mediates Wnt pathway inhibition by pVHL. Nat Cell Biol 2008; 10: 1208-1216.
-
(2008)
Nat Cell Biol
, vol.10
, pp. 1208-1216
-
-
Chitalia, V.C.1
-
22
-
-
33144486527
-
Clusterin is a secreted marker for a hypoxia-inducible factor-independent function of the von Hippel-Lindau tumor suppressor protein
-
Nakamura E, et al: Clusterin is a secreted marker for a hypoxia-inducible factor-independent function of the von Hippel-Lindau tumor suppressor protein. Am J Pathol 2006; 168: 574-584.
-
(2006)
Am J Pathol
, vol.168
, pp. 574-584
-
-
Nakamura, E.1
-
23
-
-
0037395880
-
Von Hippel-Lindau disease: Recent advances and therapeutic perspectives
-
Richard S: von Hippel-Lindau disease: recent advances and therapeutic perspectives. Expert Rev Anticancer Ther 2003; 3: 215-233.
-
(2003)
Expert Rev Anticancer Ther
, vol.3
, pp. 215-233
-
-
Richard, S.1
-
24
-
-
0034081861
-
Hemangioblastomas of the retina: Impact of von Hippel-Lindau disease
-
Niemela M, et al: Hemangioblastomas of the retina: impact of von Hippel-Lindau disease. Invest Ophthalmol Vis Sci 2000; 41: 1909-1915.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 1909-1915
-
-
Niemela, M.1
-
25
-
-
0032322491
-
Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma
-
Neumann HP, et al: Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 1998; 160: 1248-1254.
-
(1998)
J Urol
, vol.160
, pp. 1248-1254
-
-
Neumann, H.P.1
-
26
-
-
33846913473
-
Genotype-phenotype correlations in von Hippel-Lindau disease
-
Ong KR, et al: Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat 2007; 28: 143-149.
-
(2007)
Hum Mutat
, vol.28
, pp. 143-149
-
-
Ong, K.R.1
-
27
-
-
19144371868
-
A genetic register for von Hippel-Lindau disease
-
Maddock IR, et al: A genetic register for von Hippel-Lindau disease. J Med Genet 1996; 33: 120-127.
-
(1996)
J Med Genet
, vol.33
, pp. 120-127
-
-
Maddock, I.R.1
-
28
-
-
20244383434
-
Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease
-
Manski TJ, et al: Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease. JAMA 1997; 277: 1461-1466.
-
(1997)
JAMA
, vol.277
, pp. 1461-1466
-
-
Manski, T.J.1
-
29
-
-
0031758343
-
Pancreatic neuroendocrine tumors associated with von Hippel Lindau disease: Diagnostic and management recommendations
-
Libutti SK, et al: Pancreatic neuroendocrine tumors associated with von Hippel Lindau disease: diagnostic and management recommendations. Surgery 1998; 124: 1153-1159.
-
(1998)
Surgery
, vol.124
, pp. 1153-1159
-
-
Libutti, S.K.1
-
30
-
-
0036727853
-
Retinal hemangioblastoma in von Hippel-Lindau disease: A clinical and molecular study
-
Dollfus H, et al: Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 2002; 43: 3067-3074.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 3067-3074
-
-
Dollfus, H.1
-
31
-
-
0036712736
-
Rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416
-
Aiello LP, et al: Rapid and durable recovery of visual function in a patient with von Hippel-Lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. Ophthalmology 2002; 109: 1745-1751.
-
(2002)
Ophthalmology
, vol.109
, pp. 1745-1751
-
-
Aiello, L.P.1
-
32
-
-
0038015673
-
Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas
-
Girmens JF, et al: Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. Am J Ophthalmol 2003; 136: 194-196.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 194-196
-
-
Girmens, J.F.1
-
33
-
-
0037222647
-
The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease
-
Wanebo JE, et al: The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 2003; 98: 82-94.
-
(2003)
J Neurosurg
, vol.98
, pp. 82-94
-
-
Wanebo, J.E.1
-
34
-
-
80053549114
-
Management of von Hippel-Lindau disease-associated CNS lesions
-
Wind JJ, Lonser RR: Management of von Hippel-Lindau disease-associated CNS lesions. Expert Rev Neurother 2011; 11: 1433-1441.
-
(2011)
Expert Rev Neurother
, vol.11
, pp. 1433-1441
-
-
Wind, J.J.1
Lonser, R.R.2
-
35
-
-
33747256320
-
Long-term natural history of hemangioblastomas in patients with von Hippel-Lindau disease: Implications for treatment
-
Ammerman JM, et al: Long-term natural history of hemangioblastomas in patients with von Hippel-Lindau disease: implications for treatment. J Neurosurg 2006; 105: 248-255.
-
(2006)
J Neurosurg
, vol.105
, pp. 248-255
-
-
Ammerman, J.M.1
-
36
-
-
38949144398
-
Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease
-
Jagannathan J, et al: Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease. J Neurosurg 2008; 108: 210-222.
-
(2008)
J Neurosurg
, vol.108
, pp. 210-222
-
-
Jagannathan, J.1
-
37
-
-
77649095714
-
Functional outcome after resection of spinal cord hemangioblastomas associated with von Hippel-Lindau disease
-
Mehta GU, et al: Functional outcome after resection of spinal cord hemangioblastomas associated with von Hippel-Lindau disease. J Neurosurg Spine 2010; 12: 233-242.
-
(2010)
J Neurosurg Spine
, vol.12
, pp. 233-242
-
-
Mehta, G.U.1
-
38
-
-
79955669628
-
Long-term outcome after resection of brainstem hemangioblastomas in von Hippel-Lindau disease
-
Wind JJ, et al: Long-term outcome after resection of brainstem hemangioblastomas in von Hippel-Lindau disease. J Neurosurg 2011; 114: 1312-1318.
-
(2011)
J Neurosurg
, vol.114
, pp. 1312-1318
-
-
Wind, J.J.1
-
39
-
-
75749149298
-
Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease
-
Asthagiri AR, et al: Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. Neuro-Oncology 2010; 12: 80-86.
-
(2010)
Neuro-Oncology
, vol.12
, pp. 80-86
-
-
Asthagiri, A.R.1
-
40
-
-
24644458578
-
Edema is a precursor to central nervous system peritumoral cyst formation
-
Lonser RR, et al: Edema is a precursor to central nervous system peritumoral cyst formation. Ann Neurol 2005; 58: 392-399.
-
(2005)
Ann Neurol
, vol.58
, pp. 392-399
-
-
Lonser, R.R.1
-
41
-
-
0032916281
-
VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma
-
Chan CC, et al: VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. Arch Ophthalmol 1999; 117: 625-630.
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 625-630
-
-
Chan, C.C.1
-
42
-
-
0030958304
-
Von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease
-
Vortmeyer AO, et al: von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease. Hum Pathol 1997; 28: 540-543.
-
(1997)
Hum Pathol
, vol.28
, pp. 540-543
-
-
Vortmeyer, A.O.1
-
43
-
-
34548669593
-
Central nervous system capillary haemangioblastoma: The pathologist's viewpoint
-
Hussein MR: Central nervous system capillary haemangioblastoma: the pathologist's viewpoint. Int J Exp Pathol 2007; 88: 311-324.
-
(2007)
Int J Exp Pathol
, vol.88
, pp. 311-324
-
-
Hussein, M.R.1
-
44
-
-
27944507362
-
Cellular and reticular variants of haemangioblastoma revisited: A clinicopathologic study of 88 cases
-
Hasselblatt M, et al: Cellular and reticular variants of haemangioblastoma revisited: a clinicopathologic study of 88 cases. Neuropathol Appl Neurobiol 2005; 31: 618-622.
-
(2005)
Neuropathol Appl Neurobiol
, vol.31
, pp. 618-622
-
-
Hasselblatt, M.1
-
45
-
-
34147125874
-
Metastatic renal cell carcinoma to hemangioblastoma in von Hippel-Lindau disease
-
Polydorides AD, Rosenblum MK, Edgar MA: Metastatic renal cell carcinoma to hemangioblastoma in von Hippel-Lindau disease. Arch Pathol Lab Med 2007; 131: 641-645.
-
(2007)
Arch Pathol Lab Med
, vol.131
, pp. 641-645
-
-
Polydorides, A.D.1
Rosenblum, M.K.2
Edgar, M.A.3
-
46
-
-
79251551994
-
PAX2(-)/PAX8(-)/inhibin A(+) immunoprofile in hemangioblastoma: A helpful combination in the differential diagnosis with metastatic clear cell renal cell carcinoma to the central nervous system
-
Carney EM, et al: PAX2(-)/PAX8(-)/inhibin A(+) immunoprofile in hemangioblastoma: a helpful combination in the differential diagnosis with metastatic clear cell renal cell carcinoma to the central nervous system. Am J Surg Pathol 2011; 35: 262-267.
-
(2011)
Am J Surg Pathol
, vol.35
, pp. 262-267
-
-
Carney, E.M.1
-
47
-
-
33947587879
-
Development of the hemangioblast defines the onset of hematopoiesis in human ES cell differentiation cultures
-
Kennedy M, et al: Development of the hemangioblast defines the onset of hematopoiesis in human ES cell differentiation cultures. Blood 2007; 109: 2679-2687.
-
(2007)
Blood
, vol.109
, pp. 2679-2687
-
-
Kennedy, M.1
-
48
-
-
2142811530
-
Developmental effects of von Hippel-Lindau gene deficiency
-
Vortmeyer AO, et al: Developmental effects of von Hippel-Lindau gene deficiency. Ann Neurol 2004; 55: 721-728.
-
(2004)
Ann Neurol
, vol.55
, pp. 721-728
-
-
Vortmeyer, A.O.1
-
49
-
-
79961027723
-
Developmentally arrested structures preceding cerebellar tumors in von Hippel-Lindau disease
-
Shively SB, et al: Developmentally arrested structures preceding cerebellar tumors in von Hippel-Lindau disease. Mod Pathol 2011; 24: 1023-1030.
-
(2011)
Mod Pathol
, vol.24
, pp. 1023-1030
-
-
Shively, S.B.1
-
50
-
-
84870419956
-
Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; Clinicopathological long-term follow-up
-
Jilg CA, et al: Nephron sparing surgery in von Hippel-Lindau associated renal cell carcinoma; clinicopathological long-term follow-up. Fam Cancer 2012.
-
(2012)
Fam Cancer
-
-
Jilg, C.A.1
-
51
-
-
44649127307
-
Feasibility and outcomes of repeat partial nephrectomy
-
Johnson A, et al: Feasibility and outcomes of repeat partial nephrectomy. J Urol 2008; 180: 89-93.
-
(2008)
J Urol
, vol.180
, pp. 89-93
-
-
Johnson, A.1
-
52
-
-
0028673622
-
Renal transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease
-
Steinbach F, Novick AC, Shoskes D: Renal transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease. Urology 1994; 44: 760-763.
-
(1994)
Urology
, vol.44
, pp. 760-763
-
-
Steinbach, F.1
Novick, A.C.2
Shoskes, D.3
-
53
-
-
0028924005
-
Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: Clinical and molecular genetic implications
-
Poston CD, et al: Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 1995; 153: 22-26.
-
(1995)
J Urol
, vol.153
, pp. 22-26
-
-
Poston, C.D.1
-
54
-
-
0028800884
-
Prevalence of microscopic lesions in grossly normal renal parenchyma from patients with von Hippel-Lindau disease, sporadic renal cell carcinoma and no renal disease: Clinical implications
-
discussion 2014-2015
-
Walther MM, et al: Prevalence of microscopic lesions in grossly normal renal parenchyma from patients with von Hippel-Lindau disease, sporadic renal cell carcinoma and no renal disease: clinical implications. J Urol 1995; 154: 2010-2014; discussion 2014-2015.
-
(1995)
J Urol
, vol.154
, pp. 2010-2014
-
-
Walther, M.M.1
-
55
-
-
33746886185
-
Primary cilium formation requires von Hippel-Lindau gene function in renalderived cells
-
Lutz MS, Burk RD: Primary cilium formation requires von Hippel-Lindau gene function in renalderived cells. Cancer Res 2006; 66: 6903-6907.
-
(2006)
Cancer Res
, vol.66
, pp. 6903-6907
-
-
Lutz, M.S.1
Burk, R.D.2
-
56
-
-
34548220593
-
The VHL tumor suppressor: Riding tandem with GSK3beta in primary cilium maintenance
-
Thoma CR, Frew IJ, Krek W: The VHL tumor suppressor: riding tandem with GSK3beta in primary cilium maintenance. Cell Cycle 2007; 6: 1809-1813.
-
(2007)
Cell Cycle
, vol.6
, pp. 1809-1813
-
-
Thoma, C.R.1
Frew, I.J.2
Krek, W.3
-
57
-
-
33745819269
-
Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein
-
Esteban MA, et al: Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein. J Am Soc Nephrol 2006; 17: 1801-1806.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 1801-1806
-
-
Esteban, M.A.1
-
59
-
-
34247863920
-
PVHL and GSK3beta are components of a primary cilium-maintenance signalling network
-
Thoma CR, et al: pVHL and GSK3beta are components of a primary cilium-maintenance signalling network. Nat Cell Biol 2007; 9: 588-595.
-
(2007)
Nat Cell Biol
, vol.9
, pp. 588-595
-
-
Thoma, C.R.1
-
60
-
-
77951727246
-
VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: Further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease
-
Montani M, et al: VHL-gene deletion in single renal tubular epithelial cells and renal tubular cysts: further evidence for a cyst-dependent progression pathway of clear cell renal carcinoma in von Hippel-Lindau disease. Am J Surg Pathol 2010; 34: 806-815.
-
(2010)
Am J Surg Pathol
, vol.34
, pp. 806-815
-
-
Montani, M.1
-
61
-
-
37549051213
-
Targeting the nuclear factor-kappaB rescue pathway has promising future in human renal cell carcinoma therapy
-
Sourbier C, et al: Targeting the nuclear factor-kappaB rescue pathway has promising future in human renal cell carcinoma therapy. Cancer Res 2007; 67: 11668-11676.
-
(2007)
Cancer Res
, vol.67
, pp. 11668-11676
-
-
Sourbier, C.1
-
62
-
-
80053357273
-
The emerging role of nuclear factor kappa B in renal cell carcinoma
-
Morais C, et al: The emerging role of nuclear factor kappa B in renal cell carcinoma. Int J Biochem Cell Biol 2011; 43: 1537-1549.
-
(2011)
Int J Biochem Cell Biol
, vol.43
, pp. 1537-1549
-
-
Morais, C.1
-
63
-
-
0037340392
-
Clinical review 155: Pheochromocytoma in von Hippel-Lindau disease
-
Hes FJ, Hoppener JW, Lips CJ: Clinical review 155: Pheochromocytoma in von Hippel-Lindau disease. J Clin Endocrinol Metab 2003; 88: 969-974.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 969-974
-
-
Hes, F.J.1
Hoppener, J.W.2
Lips, C.J.3
-
64
-
-
6544234532
-
Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: Comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
-
Walther MM, et al: Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma. J Urol 1999; 162: 659-664.
-
(1999)
J Urol
, vol.162
, pp. 659-664
-
-
Walther, M.M.1
-
65
-
-
84855940667
-
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
-
Welander J, Soderkvist P, Gimm O: Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 2011; 18:R253-R276.
-
(2011)
Endocr Relat Cancer
, vol.18
, pp. R253-R276
-
-
Welander, J.1
Soderkvist, P.2
Gimm, O.3
-
66
-
-
0035986364
-
Pheochromocytoma in von hippellindau disease: Distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2
-
Koch CA, et al: Pheochromocytoma in von hippellindau disease: distinct histopathologic phenotype compared to pheochromocytoma in multiple endocrine neoplasia type 2. Endocr Pathol 2002; 13: 17-27.
-
(2002)
Endocr Pathol
, vol.13
, pp. 17-27
-
-
Koch, C.A.1
-
67
-
-
64949107042
-
VHL type 2B gene mutation moderates HIF dosage in vitro and in vivo
-
Lee CM, et al: VHL type 2B gene mutation moderates HIF dosage in vitro and in vivo . Oncogene 2009; 28: 1694-1705.
-
(2009)
Oncogene
, vol.28
, pp. 1694-1705
-
-
Lee, C.M.1
-
68
-
-
9844261163
-
Pancreatic cystic manifestations in von Hippel-Lindau disease
-
Girelli R, et al: Pancreatic cystic manifestations in von Hippel-Lindau disease. Int J Pancreatol 1997; 22: 101-109.
-
(1997)
Int J Pancreatol
, vol.22
, pp. 101-109
-
-
Girelli, R.1
-
69
-
-
80052426716
-
Prevalence and clinical significance of pancreatic cysts associated with cysts in other organs
-
Agrawal D, et al: Prevalence and clinical significance of pancreatic cysts associated with cysts in other organs. Dig Liver Dis 2011; 43: 797-801.
-
(2011)
Dig Liver Dis
, vol.43
, pp. 797-801
-
-
Agrawal, D.1
-
70
-
-
79959291745
-
Serous cystic neoplasms of the whole pancreas in a patient with von Hippel-Lindau disease
-
Kanno A, et al: Serous cystic neoplasms of the whole pancreas in a patient with von Hippel-Lindau disease. Intern Med 2011; 50: 1293-1298.
-
(2011)
Intern Med
, vol.50
, pp. 1293-1298
-
-
Kanno, A.1
-
71
-
-
0035537966
-
Von Hippel-Lindau syndrome presenting as pancreatic cysts
-
Scolari F, et al: von Hippel-Lindau syndrome presenting as pancreatic cysts. Contrib Nephrol. Basel, Karger, 2001, vol 136, pp 325-330.
-
(2001)
Contrib Nephrol. Basel, Karger
, vol.136
, pp. 325-330
-
-
Scolari, F.1
-
72
-
-
20244363474
-
Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease
-
Libutti SK, et al: Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. Surgery 2000; 128: 1022-102.
-
(2000)
Surgery
, vol.128
, pp. 1022-1102
-
-
Libutti, S.K.1
-
73
-
-
49649106968
-
Endocrine pancreatic tumors in von Hippel-Lindau disease: Clinical, histological, and genetic features
-
Corcos O, et al: Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features. Pancreas 2008; 37: 85-93.
-
(2008)
Pancreas
, vol.37
, pp. 85-93
-
-
Corcos, O.1
-
74
-
-
0035002787
-
Clear cell endocrine pancreatic tumor mimicking renal cell carcinoma: A distinctive neoplasm of von Hippel-Lindau disease
-
Hoang MP, Hruban RH, Albores-Saavedra J: Clear cell endocrine pancreatic tumor mimicking renal cell carcinoma: a distinctive neoplasm of von Hippel-Lindau disease. Am J Surg Pathol 2001; 25: 602-609.
-
(2001)
Am J Surg Pathol
, vol.25
, pp. 602-609
-
-
Hoang, M.P.1
Hruban, R.H.2
Albores-Saavedra, J.3
-
75
-
-
65449119534
-
Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: Characterization by VHL/HIF pathway proteins expression
-
Perigny M, et al: Pancreatic endocrine microadenomatosis in patients with von Hippel-Lindau disease: characterization by VHL/HIF pathway proteins expression. Am J Surg Pathol 2009; 33: 739-748.
-
(2009)
Am J Surg Pathol
, vol.33
, pp. 739-748
-
-
Perigny, M.1
-
76
-
-
0031872093
-
Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: Histopathological and molecular genetic analysis
-
Lubensky IA, et al: Multiple neuroendocrine tumors of the pancreas in von Hippel-Lindau disease patients: histopathological and molecular genetic analysis. Am J Pathol 1998; 153: 223-231.
-
(1998)
Am J Pathol
, vol.153
, pp. 223-231
-
-
Lubensky, I.A.1
-
77
-
-
33947411402
-
Three cases of pancreatic serous cystadenoma and endocrine tumour
-
Blandamura S, et al: Three cases of pancreatic serous cystadenoma and endocrine tumour. J Clin Pathol 2007; 60: 278-282.
-
(2007)
J Clin Pathol
, vol.60
, pp. 278-282
-
-
Blandamura, S.1
-
78
-
-
36549022020
-
Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs)
-
Blansfield JA, et al: Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery 2007; 142: 814-818.
-
(2007)
Surgery
, vol.142
, pp. 814-818
-
-
Blansfield, J.A.1
-
79
-
-
0030748590
-
A novel pancreatic endocrine tumor suppressor gene locus on chromosome 3p with clinical prognostic implications
-
Chung DC, et al: A novel pancreatic endocrine tumor suppressor gene locus on chromosome 3p with clinical prognostic implications. J Clin Invest 1997; 100: 404-410.
-
(1997)
J Clin Invest
, vol.100
, pp. 404-410
-
-
Chung, D.C.1
-
80
-
-
84861172989
-
Molecular profiling of pancreatic neuroendocrine tumors in sporadic and von Hippel-Lindau patients
-
Speisky D, et al: Molecular profiling of pancreatic neuroendocrine tumors in sporadic and von Hippel-Lindau patients. Clin Cancer Res 2012; 18: 2838-2849.
-
(2012)
Clin Cancer Res
, vol.18
, pp. 2838-2849
-
-
Speisky, D.1
-
81
-
-
0024458506
-
Low-grade adenocarcinoma of probable endolymphatic sac origin. A clinicopathologic study of 20 cases
-
Heffner DK: Low-grade adenocarcinoma of probable endolymphatic sac origin. A clinicopathologic study of 20 cases. Cancer 1989; 64: 2292-2302.
-
(1989)
Cancer
, vol.64
, pp. 2292-2302
-
-
Heffner, D.K.1
-
82
-
-
0036665042
-
Radiological considerations in the diagnosis of an endolymphatic sac tumour
-
Joy HM, et al: Radiological considerations in the diagnosis of an endolymphatic sac tumour. Clin Radiol 2002; 57: 652-654.
-
(2002)
Clin Radiol
, vol.57
, pp. 652-654
-
-
Joy, H.M.1
-
83
-
-
41849151100
-
The vestibular aqueduct: Site of origin of endolymphatic sac tumors
-
Lonser RR, et al: The vestibular aqueduct: site of origin of endolymphatic sac tumors. J Neurosurg 2008; 108: 751-756.
-
(2008)
J Neurosurg
, vol.108
, pp. 751-756
-
-
Lonser, R.R.1
-
84
-
-
77957344327
-
Origin of endolymphatic sac tumor
-
Michaels L: Origin of endolymphatic sac tumor. Head Neck Pathol 2007; 1: 104-111.
-
(2007)
Head Neck Pathol
, vol.1
, pp. 104-111
-
-
Michaels, L.1
-
85
-
-
28244434856
-
Effects of VHL deficiency on endolymphatic duct and sac
-
Glasker S, et al: Effects of VHL deficiency on endolymphatic duct and sac. Cancer Res 2005; 65: 10847-10853.
-
(2005)
Cancer Res
, vol.65
, pp. 10847-10853
-
-
Glasker, S.1
-
86
-
-
79952707965
-
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): Sine qua non radiology-pathology and the University of Texas MD Anderson Cancer Center experience
-
Bell D, et al: Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): sine qua non radiology-pathology and the University of Texas MD Anderson Cancer Center experience. Ann Diagn Pathol 2011; 15: 117-123.
-
(2011)
Ann Diagn Pathol
, vol.15
, pp. 117-123
-
-
Bell, D.1
-
87
-
-
0033551534
-
VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease
-
Kawahara N, et al: VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease. Neurology 1999; 53: 208-210.
-
(1999)
Neurology
, vol.53
, pp. 208-210
-
-
Kawahara, N.1
-
88
-
-
1442282495
-
Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: The role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression
-
Jensen RL, et al: Endolymphatic sac tumors in patients with and without von Hippel-Lindau disease: the role of genetic mutation, von Hippel-Lindau protein, and hypoxia inducible factor-1alpha expression. J Neurosurg 2004; 100: 488-497.
-
(2004)
J Neurosurg
, vol.100
, pp. 488-497
-
-
Jensen, R.L.1
-
89
-
-
0034326798
-
Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors
-
Vortmeyer AO, et al: Somatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors. Cancer Res 2000; 60: 5963-5965.
-
(2000)
Cancer Res
, vol.60
, pp. 5963-5965
-
-
Vortmeyer, A.O.1
-
90
-
-
84859006564
-
An analysis of five clear cell papillary cystadenomas of mesosalpinx and broad ligament: Four associated with von Hippel-Lindau disease and one aggressive sporadic type
-
Nogales FF, et al: An analysis of five clear cell papillary cystadenomas of mesosalpinx and broad ligament: four associated with von Hippel-Lindau disease and one aggressive sporadic type. Histopathology 2012; 60: 748-757.
-
(2012)
Histopathology
, vol.60
, pp. 748-757
-
-
Nogales, F.F.1
-
91
-
-
33747876465
-
Epididymal cystadenomas and epithelial tumourlets: Effects of VHL deficiency on the human epididymis
-
Glasker S, et al: Epididymal cystadenomas and epithelial tumourlets: effects of VHL deficiency on the human epididymis. J Pathol 2006; 210: 32-41.
-
(2006)
J Pathol
, vol.210
, pp. 32-41
-
-
Glasker, S.1
-
92
-
-
15744395388
-
Clear cell papillary cyst adenoma of the epididymis and mesosalpinx: Immunohistochemical differentiation from metastatic clear cell renal cell carcinoma
-
Aydin H, et al: Clear cell papillary cyst adenoma of the epididymis and mesosalpinx: immunohistochemical differentiation from metastatic clear cell renal cell carcinoma. Am J Surg Pathol 2005; 29: 520-523.
-
(2005)
Am J Surg Pathol
, vol.29
, pp. 520-523
-
-
Aydin, H.1
-
94
-
-
43049107248
-
Bilateral adrenal haemangioblastoma in a patient with von Hippel-Lindau disease
-
Browning L, Parker A: Bilateral adrenal haemangioblastoma in a patient with von Hippel-Lindau disease. Pathology 2008; 40: 429-431.
-
(2008)
Pathology
, vol.40
, pp. 429-431
-
-
Browning, L.1
Parker, A.2
-
95
-
-
0026023764
-
Hepatic hemangioblastoma. An unusual presentation in a patient with von Hippel-Lindau disease
-
Rojiani AM, et al: Hepatic hemangioblastoma. An unusual presentation in a patient with von Hippel-Lindau disease. Am J Surg Pathol 1991; 15: 81-86.
-
(1991)
Am J Surg Pathol
, vol.15
, pp. 81-86
-
-
Rojiani, A.M.1
-
96
-
-
0034809132
-
Clear cell carcinoid tumor of the gallbladder: Another distinctive manifestation of von Hippel-Lindau disease
-
Sinkre PA, et al: Clear cell carcinoid tumor of the gallbladder: another distinctive manifestation of von Hippel-Lindau disease. Am J Surg Pathol 2001; 25: 1334-1339.
-
(2001)
Am J Surg Pathol
, vol.25
, pp. 1334-1339
-
-
Sinkre, P.A.1
-
97
-
-
0035219053
-
Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A
-
Karasawa Y, et al: Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A. Intern Med 2001; 40: 38-43.
-
(2001)
Intern Med
, vol.40
, pp. 38-43
-
-
Karasawa, Y.1
-
98
-
-
77955165210
-
Lipid cell tumors in two women with von Hippel-Lindau syndrome
-
Wagner M, et al: Lipid cell tumors in two women with von Hippel-Lindau syndrome. Obstet Gynecol 2010; 116(suppl 2):535-539.
-
(2010)
Obstet Gynecol
, vol.116
, pp. 535-539
-
-
Wagner, M.1
-
99
-
-
80053626650
-
A von Hippel-Lindau disease-associated microcystic adenoma of the ethmoid sinus: Case report
-
discussion E1021-E1022
-
Xu DS, et al: A von Hippel-Lindau disease-associated microcystic adenoma of the ethmoid sinus: case report. Neurosurgery 2011; 69:E1017-E1021; discussion E1021-E1022.
-
(2011)
Neurosurgery
, vol.69
, pp. E1017-E1021
-
-
Xu, D.S.1
-
100
-
-
34547613134
-
Multifocal microcysts and papillary cystadenoma of the lung in von Hippel-Lindau disease
-
Klein J, et al: Multifocal microcysts and papillary cystadenoma of the lung in von Hippel-Lindau disease. Am J Surg Pathol 2007; 31: 1292-1296.
-
(2007)
Am J Surg Pathol
, vol.31
, pp. 1292-1296
-
-
Klein, J.1
-
101
-
-
0032852843
-
Cerebellar astrocytoma associated with von Hippel-Lindau disease: Case report with molecular findings
-
Ng HK, Tse JY, Poon WS: Cerebellar astrocytoma associated with von Hippel-Lindau disease: case report with molecular findings. Br J Neurosurg 1999; 13: 504-507.
-
(1999)
Br J Neurosurg
, vol.13
, pp. 504-507
-
-
Ng, H.K.1
Tse, J.Y.2
Poon, W.S.3
-
102
-
-
38549096064
-
Chondrosarcoma of the iliac wing in von Hippel-Lindau disease
-
Marinozzi A, et al: Chondrosarcoma of the iliac wing in von Hippel-Lindau disease. J Exp Clin Cancer Res 2007; 26: 599-601.
-
(2007)
J Exp Clin Cancer Res
, vol.26
, pp. 599-601
-
-
Marinozzi, A.1
-
103
-
-
0037709883
-
Von Hippel-Lindau disease
-
Lonser RR, et al: von Hippel-Lindau disease. Lancet 2003; 361(9374):2059-2067.
-
(2003)
Lancet
, vol.361
, Issue.9374
, pp. 2059-2067
-
-
Lonser, R.R.1
-
104
-
-
9744268261
-
Von Hippel-Lindau disease
-
Maher ER: von Hippel-Lindau disease. Curr Mol Med 2004; 4: 833-842.
-
(2004)
Curr Mol Med
, vol.4
, pp. 833-842
-
-
Maher, E.R.1
-
105
-
-
83655196994
-
Role of VHL gene mutation in human renal cell carcinoma
-
Arjumand W, Sultana S: Role of VHL gene mutation in human renal cell carcinoma. Tumour Biol 2012; 33: 9-16.
-
(2012)
Tumour Biol
, vol.33
, pp. 9-16
-
-
Arjumand, W.1
Sultana, S.2
-
106
-
-
35148857486
-
Sunitinib efficacy against advanced renal cell carcinoma
-
Motzer RJ, et al: Sunitinib efficacy against advanced renal cell carcinoma. J Urol 2007; 178: 1883-1887.
-
(2007)
J Urol
, vol.178
, pp. 1883-1887
-
-
Motzer, R.J.1
-
107
-
-
70249097380
-
Sorafenib for treatment of renal cell carcinoma: Final efficacy and safety results of the phase III treatment approaches in renal cancer global evaluation trial
-
Escudier B, et al: Sorafenib for treatment of renal cell carcinoma: final efficacy and safety results of the phase III treatment approaches in renal cancer global evaluation trial. J Clin Oncol 2009; 27: 3312-3318.
-
(2009)
J Clin Oncol
, vol.27
, pp. 3312-3318
-
-
Escudier, B.1
-
108
-
-
77949429364
-
Sunitinib for the management of advanced renal cell carcinoma
-
Escudier B: Sunitinib for the management of advanced renal cell carcinoma. Expert Rev Anticancer Ther 2010; 10: 305-317.
-
(2010)
Expert Rev Anticancer Ther
, vol.10
, pp. 305-317
-
-
Escudier, B.1
-
109
-
-
34249779568
-
Temsirolimus, interferon alfa, or both for advanced renal-cell carcinoma
-
Hudes G, et al: Temsirolimus, interferon alfa, or both for advanced renal-cell carcinoma. N Engl J Med 2007; 356: 2271-2281.
-
(2007)
N Engl J Med
, vol.356
, pp. 2271-2281
-
-
Hudes, G.1
-
110
-
-
58249091533
-
Activity of sunitinib in patients with advanced neuroendocrine tumors
-
author reply 320
-
Bajetta E, Guadalupi V, Procopio G: Activity of sunitinib in patients with advanced neuroendocrine tumors. J Clin Oncol 2009; 27: 319-320; author reply 320.
-
(2009)
J Clin Oncol
, vol.27
, pp. 319-320
-
-
Bajetta, E.1
Guadalupi, V.2
Procopio, G.3
-
111
-
-
49149114782
-
Activity of sunitinib in patients with advanced neuroendocrine tumors
-
Kulke MH, et al: Activity of sunitinib in patients with advanced neuroendocrine tumors. J Clin Oncol 2008; 26: 3403-3410.
-
(2008)
J Clin Oncol
, vol.26
, pp. 3403-3410
-
-
Kulke, M.H.1
-
112
-
-
84859046378
-
Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with von Hippel-Lindau syndrome (VHL)
-
Ali T, Kandil D, Piperdi B: Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with von Hippel-Lindau syndrome (VHL). Pancreas 2012; 41: 492-493.
-
(2012)
Pancreas
, vol.41
, pp. 492-493
-
-
Ali, T.1
Kandil, D.2
Piperdi, B.3
-
113
-
-
59749100013
-
Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: Targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors
-
Jimenez C, et al: Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. J Clin Endocrinol Metab 2009; 94: 386-391.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 386-391
-
-
Jimenez, C.1
-
114
-
-
84865726638
-
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: Case report
-
Kim BY, Jonasch E, McCutcheon IE: Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: Case report. Target Oncol 2012.
-
(2012)
Target Oncol
-
-
Kim, B.Y.1
Jonasch, E.2
McCutcheon, I.E.3
-
115
-
-
84860226814
-
Small-molecule inhibitors of the HIF pathway and synthetic lethal interactions
-
Jones DT, Harris AL: Small-molecule inhibitors of the HIF pathway and synthetic lethal interactions. Expert Opin Ther Targets 2012.
-
(2012)
Expert Opin Ther Targets
-
-
Jones, D.T.1
Harris, A.L.2
|