TY - JOUR AU - Latif, F. AU - Tory, K. AU - Gnarra, J. AU - Yao, M. AU - Duh, F. M. AU - Orcutt, M. L. PY - 1993 DA - 1993// TI - Identification of the von Hippel-Lindau disease tumor suppressor gene JO - Science VL - 260 UR - https://doi.org/10.1126/science.8493574 DO - 10.1126/science.8493574 ID - Latif1993 ER - TY - JOUR AU - Wait, S. D. AU - Vortmeyer, A. O. AU - Lonser, R. R. AU - Chang, D. T. AU - Finn, M. A. AU - Bhowmick, D. A. PY - 2004 DA - 2004// TI - Somatic mutations in VHL germline deletion kindred correlate with mild phenotype JO - Ann Neurol VL - 55 UR - https://doi.org/10.1002/ana.10807 DO - 10.1002/ana.10807 ID - Wait2004 ER - TY - JOUR AU - Chan, C. C. AU - Collins, A. B. AU - Chew, E. Y. PY - 2007 DA - 2007// TI - Molecular pathology of eyes with von Hippel-Lindau (VHL) disease: a review JO - Retina VL - 27 UR - https://doi.org/10.1097/01.iae.0000244659.62202.ee DO - 10.1097/01.iae.0000244659.62202.ee ID - Chan2007 ER - TY - JOUR AU - Singh, A. D. AU - Shields, C. L. AU - Shields, J. A. PY - 2001 DA - 2001// TI - Hippel-Lindau disease JO - Surv Ophthalmol VL - 46 UR - https://doi.org/10.1016/S0039-6257(01)00245-4 DO - 10.1016/S0039-6257(01)00245-4 ID - Singh2001 ER - TY - JOUR AU - Chew, E. Y. PY - 2005 DA - 2005// TI - Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations JO - Trans Am Ophthalmol Soc VL - 103 ID - Chew2005 ER - TY - JOUR AU - Dollfus, H. AU - Massin, P. AU - Taupin, P. AU - Nemeth, C. AU - Amara, S. AU - Giraud, S. PY - 2002 DA - 2002// TI - Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study JO - Invest Ophthalmol Vis Sci VL - 43 ID - Dollfus2002 ER - TY - JOUR AU - Huang, X. F. AU - Xiang, P. AU - Chen, J. AU - Xing, D. J. AU - Huang, N. AU - Min, Q. PY - 2013 DA - 2013// TI - Targeted exome sequencing identified novel USH2A mutations in usher syndrome families JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0063832 DO - 10.1371/journal.pone.0063832 ID - Huang2013 ER - TY - JOUR AU - Clifford, S. C. AU - Maher, E. R. PY - 2001 DA - 2001// TI - Von Hippel-Lindau disease: clinical and molecular perspectives JO - Adv Cancer Res VL - 82 UR - https://doi.org/10.1016/S0065-230X(01)82003-0 DO - 10.1016/S0065-230X(01)82003-0 ID - Clifford2001 ER - TY - JOUR AU - Wu, P. AU - Zhang, N. AU - Wang, X. AU - Ning, X. AU - Li, T. AU - Bu, D. PY - 2012 DA - 2012// TI - 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 JO - J Hum Genet VL - 57 UR - https://doi.org/10.1038/jhg.2012.10 DO - 10.1038/jhg.2012.10 ID - Wu2012 ER - TY - JOUR AU - Sriphrapradang, C. AU - Choopun, K. AU - Tunteeratum, A. AU - Sura, T. PY - 2017 DA - 2017// TI - Genotype-phenotype correlation in patients with germline mutations of VHL, RET, SDHB, and SDHD genes: Thai experience JO - Clin Med Insights Endocrinol Diabetes VL - 10 UR - https://doi.org/10.1177/1179551417705122 DO - 10.1177/1179551417705122 ID - Sriphrapradang2017 ER - TY - JOUR AU - Kaelin, W. G. PY - 2002 DA - 2002// TI - Molecular basis of the VHL hereditary cancer syndrome JO - Nat Rev Cancer VL - 2 UR - https://doi.org/10.1038/nrc885 DO - 10.1038/nrc885 ID - Kaelin2002 ER - TY - JOUR AU - Schultz, K. AU - Fanburg, B. L. AU - Beasley, D. PY - 2006 DA - 2006// TI - Hypoxia and hypoxia-inducible factor-1alpha promote growth factor-induced proliferation of human vascular smooth muscle cells JO - Am J Physiol Heart Circ Physiol VL - 290 UR - https://doi.org/10.1152/ajpheart.01077.2005 DO - 10.1152/ajpheart.01077.2005 ID - Schultz2006 ER - TY - JOUR AU - Aiello, L. P. AU - George, D. J. AU - Cahill, M. T. AU - Wong, J. S. AU - Cavallerano, J. AU - Hannah, A. L. PY - 2002 DA - 2002// TI - 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 JO - Ophthalmology VL - 109 UR - https://doi.org/10.1016/S0161-6420(02)01159-4 DO - 10.1016/S0161-6420(02)01159-4 ID - Aiello2002 ER - TY - JOUR AU - Girmens, J. F. AU - Erginay, A. AU - Massin, P. AU - Scigalla, P. AU - Gaudric, A. AU - Richard, S. PY - 2003 DA - 2003// TI - 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 JO - Am J Ophthalmol VL - 136 UR - https://doi.org/10.1016/S0002-9394(03)00101-6 DO - 10.1016/S0002-9394(03)00101-6 ID - Girmens2003 ER - TY - JOUR AU - Hrisomalos, F. N. AU - Maturi, R. K. AU - Pata, V. PY - 2010 DA - 2010// TI - Long-term use of intravitreal bevacizumab (avastin) for the treatment of von hippel-Lindau associated retinal hemangioblastomas JO - Open Ophthalmol J VL - 4 UR - https://doi.org/10.2174/1874364101004010066 DO - 10.2174/1874364101004010066 ID - Hrisomalos2010 ER - TY - JOUR AU - Min, J. H. AU - Yang, H. AU - Ivan, M. AU - Gertler, F. AU - Kaelin, W. G. AU - Pavletich, N. P. PY - 2002 DA - 2002// TI - Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling JO - Science VL - 296 UR - https://doi.org/10.1126/science.1073440 DO - 10.1126/science.1073440 ID - Min2002 ER - TY - JOUR AU - Ohh, M. AU - Park, C. W. AU - Ivan, M. AU - Hoffman, M. A. AU - Kim, T. Y. AU - Huang, L. E. PY - 2000 DA - 2000// TI - Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein JO - Nat Cell Biol VL - 2 UR - https://doi.org/10.1038/35017054 DO - 10.1038/35017054 ID - Ohh2000 ER -