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3. Cancer Surveys Zbar 25 219 1995 Von Hippel-Lindau disease and sporadic renal cell carcinoma 

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4. Annual Review of Pathology Kaelin 2 145 2007 10.1146/annurev.pathol.2.010506.092049 Von Hippel-Lindau disease 

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5. Clinical Cancer Research Kaelin 10 18 Pt 2 6290S 2004 10.1158/1078-0432.CCR-sup-040025 The von Hippel-Lindau tumor suppressor gene and kidney cancer 

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6. Nature Genetics. Ang 32 4 614 2002 10.1038/ng1019 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia 

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7. Lancet Lonser 361 9374 2059 2003 10.1016/S0140-6736(03)13643-4 von Hippel-Lindau disease 

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8. Human Molecular Genetics. Clifford 10 10 1029 2001 10.1093/hmg/10.10.1029 Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel- Lindau disease 

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9. Human Molecular Genetics. Hoffman 10 10 1019 2001 10.1093/hmg/10.10.1019 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF 

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10. Nature Reviews. Cancer Kaelin 2 9 673 2002 10.1038/nrc885 Molecular basis of the VHL hereditary cancer syndrome 

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11. Journal of Neurology, Neurosurgery, and Psychiatry Glasker 67 6 758 1999 10.1136/jnnp.67.6.758 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system 

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12. Journal of Neurosurgery Neumann 70 1 24 1989 10.3171/jns.1989.70.1.0024 Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome 

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14. Journal of Medical Genetics Maddock 33 2 120 1996 10.1136/jmg.33.2.120 A genetic register for von Hippel-Lindau disease 

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15. Ophthalmology Webster 106 3 623 1999 10.1016/S0161-6420(99)90127-6 A clinical and molecular genetic analysis of solitary ocular angioma 

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16. Ophthalmology Singh 108 10 1907 2001 10.1016/S0161-6420(01)00758-8 Retinal capillary hemangioma: a comparison of sporadic cases and cases associated with von Hippel-Lindau disease 

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17. Ophthalmology Singh 109 10 1799 2002 10.1016/S0161-6420(02)01177-6 Treatment of retinal capillary hemangioma 

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18. Ophthalmology McCabe 107 12 2240 2000 10.1016/S0161-6420(00)00422-X Juxtapapillary capillary hemangiomas. Clinical features and visual acuity outcomes 

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19. Current Opinion in Ophthalmology Wong 19 3 213 2008 10.1097/ICU.0b013e3282fb7c04 Ocular von Hippel-Lindau disease: clinical update and emerging treatments 

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20. Human Mutation Ong 28 2 143 2007 10.1002/humu.20385 Genotype-phenotype correlations in von Hippel-Lindau disease 

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21. The Journal of Urology Patard 171 6 Pt 1 2181 2004 10.1097/01.ju.0000124846.37299.5e Safety and efficacy of partial nephrectomy for all T1 tumors based on an international multicenter experience 

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22. Seminars in Oncology Choueiri 33 5 596 2006 10.1053/j.seminoncol.2006.06.003 The current role of angiogenesis inhibitors in the treatment of renal cell carcinoma 

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23. The Journal of Urology Bratslavsky 179 1 67 2008 10.1016/j.juro.2007.08.150 Salvage partial nephrectomy for hereditary renal cancer: feasibility and outcomes 

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24. The New England Journal of Medicine Yang 349 5 427 2003 10.1056/NEJMoa021491 A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer 

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25. Clinical Endocrinology Mukhopadhyay 57 5 603 2002 10.1046/j.1365-2265.2002.01637.x Pancreatic lesions in von Hippel-Lindau disease 

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26. Surgery Blansfield 142 6 814 2007 10.1016/j.surg.2007.09.012 Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs) 

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27. Endocrine Pathology Chetty 15 2 141 2004 10.1385/EP:15:2:141 Pancreatic endocrine pathology in von Hippel-Lindau disease: an expanding spectrum of lesions 

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28. Gastroenterology Hammel 119 4 1087 2000 10.1053/gast.2000.18143 Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d'Etude de la Maladie de von Hippel-Lindau 

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29. The New England Journal of Medicine Lonser 350 24 2481 2004 10.1056/NEJMoa040666 Tumors of the endolymphatic sac in von Hippel-Lindau disease 

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30. Journal of the American Medical Association Butman 298 1 41 2007 10.1001/jama.298.1.41 Mechanisms of morbid hearing loss associated with tumors of the endolymphatic sac in von Hippel-Lindau disease 

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31. Human Molecular Genetics. Maher 11 20 2347 2002 10.1093/hmg/11.20.2347 The pressure rises: update on the genetics of phaeochromocytoma 

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32. The New England Journal of Medicine Neumann 346 19 1459 2002 10.1056/NEJMoa020152 Germ-line mutations in nonsyndromic pheochromocytoma 

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33. Annals of the New York Academy of Sciences Bausch 1073 122 2006 10.1196/annals.1353.013 Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort 

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34. The American Surgeon Reddy 66 12 1085 2000 10.1177/000313480006601201 Twenty-five-year surgical experience with pheochromocytoma in children 

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35. Annals of the New York Academy of Sciences Barontini 1073 30 2006 10.1196/annals.1353.003 Characteristics of pheochromocytoma in a 4- to 20-year-old population 

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36. The Journal of Clinical Endocrinology and Metabolism Gaal 94 11 4367 2009 10.1210/jc.2009-1479 Parasympathetic Paragangliomas Are Part of the Von Hippel-Lindau Syndrome 

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37. The Journal of Clinical Endocrinology and Metabolism Eisenhofer 86 5 1999 2001 10.1210/jc.86.5.1999 Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes 

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38. Clinical Endocrinology Havekes 2009 New imaging approaches to phaeochromocytomas and paragangliomas 

39. Journal of Endourology Al-Sobhi 16 3 171 2002 10.1089/089277902753716142 Laparoscopic partial adrenalectomy for recurrent pheochromocytoma after open partial adrenalectomy in von Hippel-Lindau disease 

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40. Clinical Genetics Hes 72 2 122 2007 10.1111/j.1399-0004.2007.00827.x Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification 

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41. Journal of Cellular and Molecular Medicine Santarpia 11 6 1408 2007 10.1111/j.1582-4934.2007.00122.x Mosaicism in von Hippel-Lindau disease: an event important to recognize 

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42. Journal of Pediatric Surgery Ein 25 10 1063 1990 10.1016/0022-3468(90)90219-Y Recurrent pheochromocytomas in children 

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43. Genes Chromosomes Cancer Hering 45 6 602 2006 10.1002/gcc.20323 Characteristic genomic imbalances in pediatric pheochromocytoma 

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44. Japanese Journal of Clinical Oncology Shuin 36 6 337 2006 10.1093/jjco/hyl052 Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment 

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45. American Journal of Kidney Diseases Assadi 41 1 E3 2003 10.1053/ajkd.2003.50021 Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene 

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46. Journal of Pediatric Hematology/Oncology Reichardt 24 2 145 2002 10.1097/00043426-200202000-00018 Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene 

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47. Journal of Pediatric Endocrinology & Metabolism Ferragut 12 4 579 1999 10.1515/JPEM.1999.12.4.579 Pheochromocytoma and clear-cell renal carcinoma in a child with von Hippel-Lindau disease: a patient report 

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48. Hormone Research. Priesemann 66 1 1 2006 10.1159/000093008 Benefits of screening in von Hippel-Lindau disease-comparison of morbidity associated with initial tumours in affected parents and children 

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49. Journal of Pediatric Surgery Langrehr 42 7 1291 2007 10.1016/j.jpedsurg.2007.02.029 Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood 

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50. World Journal of Urology Walther 17 1 35 1999 10.1007/s003450050102 Pheochromocytoma: evaluation, diagnosis, and treatment 

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51. American Journal of Hypertension Sanso 17 12 Pt 1 1107 2004 10.1016/j.amjhyper.2004.06.013 Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene 

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52. Hormone Research. Johnston 55 Suppl. 1 31 2001 10.1159/000063460 Investigating familial endocrine neoplasia syndromes in children 

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53. Pediatric and Developmental Pathology Gaal 1 2009 Neuroendocrine tumors and tumor syndromes in childhood 

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55. Journal of Internal Medicine Kaelin 243 6 535 1998 10.1046/j.1365-2796.1998.00335.x Functions of the von Hippel-Lindau tumour suppressor protein 

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56. Science Ivan 292 5516 464 2001 10.1126/science.1059817 HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing 

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57. Cell. Epstein 107 1 43 2001 10.1016/S0092-8674(01)00507-4 C. elegans EGL-9 and mammalian homologs define a family of dioxygenases that regulate HIF by prolyl hydroxylation 

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58. Seminars in Cell & Developmental Biology. Maxwell 13 1 29 2002 10.1006/scdb.2001.0287 Oxygen sensors and angiogenesis 

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59. Cancer Cell. Gordan 14 6 435 2008 10.1016/j.ccr.2008.10.016 HIF-alpha effects on c-Myc distinguish two subtypes of sporadic VHL-deficient clear cell renal carcinoma 

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60. PLoS Genetics. Dahia 1 1 72 2005 10.1371/journal.pgen.0010008 A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas 

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61. Endocrine-Related Cancer Eisenhofer 11 4 897 2004 10.1677/erc.1.00838 Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome 

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62. Nature Reviews. Cancer Dang 8 1 51 2008 10.1038/nrc2274 The interplay between MYC and HIF in cancer 

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63. Journal of Biological Chemistry Toschi 283 50 34495 2008 10.1074/jbc.C800170200 Differential Dependence of Hypoxia-inducible Factors 1α and 2α on mTORC1 and mTORC2 

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64. Cancer Research Esteban 66 7 3567 2006 10.1158/0008-5472.CAN-05-2670 Regulation of E-cadherin expression by VHL and hypoxia-inducible factor 

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65. Nature Reviews. Cancer Kaelin 8 11 865 2008 10.1038/nrc2502 The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer 

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67. Cell Cycle Russell 6 1 56 2007 10.4161/cc.6.1.3668 The role of VHL in the regulation of E-cadherin: a new connection in an old pathway 

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68. Molecular Biology of the Cell. Harten 20 3 1089 2009 10.1091/mbc.E08-06-0566 Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin 

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69. Cell Metabolism Kaelin 1 6 357 2005 10.1016/j.cmet.2005.05.006 ROS: really involved in oxygen sensing 

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70. Cell Metabolism Brunelle 1 6 409 2005 10.1016/j.cmet.2005.05.002 Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation 

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71. Cell Metabolism Guzy 1 6 401 2005 10.1016/j.cmet.2005.05.001 Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing 

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72. Cell Metabolism Mansfield 1 6 393 2005 10.1016/j.cmet.2005.05.003 Mitochondrial dysfunction resulting from loss of cytochrome c impairs cellular oxygen sensing and hypoxic HIF-alpha activation 

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73. The Journal of Biological Chemistry. Block 282 11 8019 2007 10.1074/jbc.M611569200 NAD(P)H oxidases regulate HIF-2alpha protein expression 

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74. Cancer Cell. Maranchie 1 3 247 2002 10.1016/S1535-6108(02)00044-2 The contribution of VHL substrate binding and HIF1- to the phenotype of VHL loss in renal cell carcinoma 

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75. Cancer Cell. Acker 8 2 131 2005 10.1016/j.ccr.2005.07.003 Genetic evidence for a tumor suppressor role of HIF-2alpha 

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76. Nature Cell Biology. Thoma 9 5 588 2007 10.1038/ncb1579 pVHL and GSK3beta are components of a primary cilium-maintenance signalling network 

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77. Cell Cycle Thoma 6 15 1809 2007 10.4161/cc.6.15.4518 The VHL tumor suppressor: riding tandem with GSK3beta in primary cilium maintenance 

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78. Molecular Cell. Ohh 1 7 959 1998 10.1016/S1097-2765(00)80096-9 The von Hippel-Lindau tumor suppressor protein is required for proper assembly of an extracellular fibronectin matrix 

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79. Molecular and Cellular Biology. Stickle 24 8 3251 2004 10.1128/MCB.24.8.3251-3261.2004 pVHL modification by NEDD8 is required for fibronectin matrix assembly and suppression of tumor development 

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80. Current Opinion in Oncology Dahia 18 1 1 2006 10.1097/01.cco.0000198017.45982.06 Evolving concepts in pheochromocytoma and paraganglioma 

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81. The Journal of Biological Chemistry. Lipscomb 276 7 5085 2001 10.1074/jbc.M008407200 SM-20 is a novel mitochondrial protein that causes caspase-dependent cell death in nerve growth factor-dependent neurons 

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82. Cancer Cell. Lee 8 2 155 2005 10.1016/j.ccr.2005.06.015 Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer 

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83. Hormone and Metabolic Research Qin 41 9 664 2009 10.1055/s-0029-1215590 Pheochromocytomas: from Genetic Diversity to New Paradigms 

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84. Molecular and Cellular Biology. Bishop 28 10 3386 2008 10.1128/MCB.02041-07 Abnormal sympathoadrenal development and systemic hypotension in PHD3-/- mice 

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85. Genes & Development. Schlisio 22 7 884 2008 10.1101/gad.1648608 The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor 

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86. Human Genetics Yeh 124 3 279 2008 10.1007/s00439-008-0553-1 A germline mutation of the KIF1Bbeta gene on 1p36 in a family with neural and nonneural tumors 

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87. Nature Cell Biology Young 10 3 361 2008 10.1038/ncb1699 VHL loss actuates a HIF-independent senescence programme mediated by Rb and p400 

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88. Nature Cell Biology. Thoma 11 8 994 2009 10.1038/ncb1912 VHL loss causes spindle misorientation and chromosome instability 

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89. Cancer Kaelin 115 10 Suppl 2262 2009 10.1002/cncr.24232 Treatment of kidney cancer: insights provided by the VHL tumor-suppressor protein 

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90. Current Cancer Drug Targets Konings 9 3 439 2009 10.2174/156800909788166556 The applicability of mTOR inhibition in solid tumors 

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