Articles with "vhl mutation" as a keyword



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Pancreas and Biliary Tree

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Published in 2017 at "Modern Pathology"

DOI: 10.1038/modpathol.2016.259

Abstract: 1765 Hemangioblastoma: A Targeted Next Generation Sequencing Study Esther C Yoon, Jian Zhuge, George Kleinman, John T Fallon, Minghao Zhong. New York Medical College at Westchester Medical Center, Valhalla, NY. Background: Hemangioblastomas (HB) are rare… read more here.

Keywords: vhl; vhl mutation; study; pancreas biliary ... See more keywords
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Somatic VHL Mutation in a Patient With MEN1-Associated Metastatic Pancreatic Neuroendocrine Tumor Responding to Sunitinib Treatment: A Case Report

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Published in 2017 at "Journal of the Endocrine Society"

DOI: 10.1210/js.2017-00156

Abstract: Multiple endocrine neoplasia type 1 (MEN1) and von Hippel-Lindau (VHL) are autosomal-dominant diseases caused by germline mutations in tumor-suppressor genes. A patient with a germline MEN1 mutation and a somatic VHL mutation in the tumor… read more here.

Keywords: tumor; vhl mutation; men1; somatic vhl ... See more keywords
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Whole-Exome Sequencing Identifies the VHL Mutation (c.262T > C, p.Try88Arg) in Non-Obstructive Azoospermia-Associated Cystic Renal Cell Carcinoma

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Published in 2022 at "Current Oncology"

DOI: 10.3390/curroncol29040192

Abstract: Von Hippel-Lindau (VHL) genes are intimately involved in renal cell carcinoma (RCC), including clear cell RCC (ccRCC) pathogenesis. However, the contribution of pathogenic VHL mutations to ccRCC remains poorly understood. We report a xanthoderm with… read more here.

Keywords: mutation 262t; 262t try88arg; renal cell; vhl mutation ... See more keywords