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VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.
Retina. 2019 Dec;39(12):2243-2253. doi: 10.1097/IAE.0000000000002555.
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Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene.
Pathol Res Pract. 2018 Aug;214(8):1156-1165. doi: 10.1016/j.prp.2018.05.007. Epub 2018 May 29.
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Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease.
Br J Ophthalmol. 2018 Jul;102(7):942-947. doi: 10.1136/bjophthalmol-2017-310884. Epub 2017 Sep 28.
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De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.
J Neurosurg. 2014 Aug;121(2):384-386. doi: 10.3171/2014.2.JNS131190. Epub 2014 Mar 28.
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A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?
Mol Genet Genomics. 2022 Nov;297(6):1615-1626. doi: 10.1007/s00438-022-01940-z. Epub 2022 Aug 25.
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Variable response of CNS hemangioblastomas to Pazopanib in a single patient with von Hippel-Lindau disease: Case report.
J Clin Neurosci. 2018 Apr;50:154-156. doi: 10.1016/j.jocn.2018.01.040. Epub 2018 Feb 1.

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Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
J Korean Neurosurg Soc. 2025 May;68(3):338-349. doi: 10.3340/jkns.2025.0018. Epub 2025 Mar 20.
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Belzutifan: a novel therapeutic for the management of von Hippel-Lindau disease and beyond.
Future Oncol. 2024;20(18):1251-1266. doi: 10.2217/fon-2023-0679. Epub 2024 Apr 19.

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Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
N Engl J Med. 2021 Nov 25;385(22):2059-2065. doi: 10.1056/NEJMoa2110051.
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Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
N Engl J Med. 2021 Nov 25;385(22):2036-2046. doi: 10.1056/NEJMoa2103425.
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MK-6482 as a potential treatment for von Hippel-Lindau disease-associated clear cell renal cell carcinoma.
Expert Opin Investig Drugs. 2021 May;30(5):495-504. doi: 10.1080/13543784.2021.1925248. Epub 2021 May 20.
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Inhibition of hypoxia-inducible factor-2α in renal cell carcinoma with belzutifan: a phase 1 trial and biomarker analysis.
Nat Med. 2021 May;27(5):802-805. doi: 10.1038/s41591-021-01324-7. Epub 2021 Apr 22.
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The von Hippel-Lindau Tumor Suppressor Gene: Implications and Therapeutic Opportunities.
Cancer J. 2020 Sep/Oct;26(5):390-398. doi: 10.1097/PPO.0000000000000480.
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Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease.
World J Urol. 2021 Jul;39(7):2409-2415. doi: 10.1007/s00345-020-03441-3. Epub 2020 Sep 16.
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HIF-independent synthetic lethality between CDK4/6 inhibition and VHL loss across species.
Sci Signal. 2019 Oct 1;12(601):eaay0482. doi: 10.1126/scisignal.aay0482.
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Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial.
Lancet Oncol. 2018 Oct;19(10):1351-1359. doi: 10.1016/S1470-2045(18)30487-X. Epub 2018 Sep 17.

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