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Tobias Krauss, Alfonso Massimiliano Ferrara, Thera P Links, Ulrich Wellner, Irina Bancos, Andrey Kvachenyuk, Karina Villar Gómez de las Heras, Marina Y Yukina, Roman Petrov, Garrett Bullivant, Laura von Duecker, Swati Jadhav, Ursula Ploeckinger, Staffan Welin, Camilla Schalin-Jäntti, Oliver Gimm, Marija Pfeifer, Joanne Ngeow, Kornelia Hasse-Lazar, Gabriela Sansó, Xiaoping Qi, M Umit Ugurlu, Rene E Diaz, Nelson Wohllk, Mariola Peczkowska, Jens Aberle, Delmar M Lourenço Jr, Maria A A Pereira, Maria C B V Fragoso, Ana O Hoff, Madson Q Almeida, Alice H D Violante, Ana R P Quidute, Zhewei Zhang, Mònica Recasens, Luis Robles Díaz, Tada Kunavisarut, Taweesak Wannachalee, Sirinart Sirinvaravong, Eric Jonasch, Simona Grozinsky-Glasberg, Merav Fraenkel, Dmitry Beltsevich, Viacheslav I Egorov, Dirk Bausch, Matthias Schott, Nikolaus Tiling, Gianmaria Pennelli, Stefan Zschiedrich, Roland Därr, Juri Ruf, Timm Denecke, Karl-Heinrich Link, Stefania Zovato, Ernst von Dobschuetz, Svetlana Yaremchuk, Holger Amthauer, Özer Makay, Attila Patocs, Martin K Walz, Tobias B Huber, Jochen Seufert, Per Hellman, Raymond H Kim, Ekaterina Kuchinskaya, Francesca Schiavi, Angelica Malinoc, Nicole Reisch, Barbara Jarzab, Marta Barontini, Andrzej Januszewicz, Nalini Shah, William F Young Jr, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann, and Birke Bausch

opportunities for early detection and prevention. Hereditary neoplasia syndromes such as von Hippel–Lindau disease (VHL) reflect a major challenge and major opportunity. VHL is characterized by specific tumors in different organs. Optimal surveillance and

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Emma R Woodward and Eamonn R Maher

. Figure 2 Model of phaeochromocytoma in von Hippel-Lindau disease ( Lee et al. 2005 ). (Top panel) In normal development as nerve growth factor (NGF) levels become limiting, sympathetic neuronal precursor cells proceed to

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Samuel M O’Toole, Anju Sahdev, Satya Bhattacharya, Roger Feakins, Evelien F Gevers, and William M Drake

Dear Editor, Pancreatic neuroendocrine tumours (pNETs) are an established feature of von Hippel–Lindau disease (VHL), occurring in up to 17% of mutation carriers ( Libutti et al. 2000 , Blansfield et al. 2007 , Erlic et al. 2010

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Elizabeth Grubbs, Daniel Halperin, Steven G Waguespack, and Robert F Gagel

B in 1966 ( Williams & Pollock 1966 ). The ophthalmologic manifestations of von Hippel-Lindau disease were first reported by Eugen von Hippel, and the syndrome was more completely described by Arvid Lindau ( Huntoon et al. 2015 ). Carney complex

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Zoran Erlic, Ursula Ploeckinger, Alberto Cascon, Michael M Hoffmann, Laura von Duecker, Aurelia Winter, Gerit Kammel, Janina Bacher, Maren Sullivan, Berend Isermann, Lars Fischer, Andreas Raffel, Wolfram Trudo Knoefel, Matthias Schott, Tobias Baumann, Oliver Schaefer, Tobias Keck, Richard P Baum, Ioana Milos, Mihaela Muresan, Mariola Peczkowska, Andrzej Januszewicz, Kenko Cupisti, Anke Tönjes, Mathias Fasshauer, Jan Langrehr, Peter von Wussow, Abbas Agaimy, Günter Schlimok, Regina Lamberts, Thorsten Wiech, Kurt Werner Schmid, Alexander Weber, Mercedes Nunez, Mercedes Robledo, Charis Eng, Hartmut P H Neumann, and for the VHL-ICT Consortium and the German NET Registry

. 1997 , Brandi et al . 2001 ); and 3) ICT in patients with von Hippel–Lindau disease (VHL; Doherty 2005 , Woodward & Maher 2006 , Blansfield et al . 2007 , Corcos et al . 2008 , Toumpanakis & Caplin 2008 ). MEN1 and VHL are autosomal dominant

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Aristides Lytras and George Tolis

s α) activation, provides an example of a phenotype associated with a post zygotic gene alteration that is present in multiple but not in all tissues/cells. Mosaicism has been also reported for other syndromes such as the von Hippel–Lindau disease

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Dewi Astuti, Christopher J Ricketts, Rasheduzzaman Chowdhury, Michael A McDonough, Dean Gentle, Gail Kirby, Susanne Schlisio, Rajappa S Kenchappa, Bruce D Carter, William G Kaelin Jr, Peter J Ratcliffe, Christopher J Schofield, Farida Latif, and Eamonn R Maher

DR Woodward ER Maxwell PH Ratcliffe PJ Maher ER 2001 Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel–Lindau disease . Human Molecular Genetics 10 1029

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Angelica Malinoc, Maren Sullivan, Thorsten Wiech, Kurt Werner Schmid, Cordula Jilg, Joern Straeter, Serdar Deger, Michael M Hoffmann, Alexander Bosse, Gerd Rasp, Charis Eng, and Hartmut P H Neumann

recognized to confer a risk of RCC. von Hippel–Lindau disease (VHL) is associated with clear cell RCC (ccRCC) in about 30% of the affected patients. The other, pheochromocytoma/paraganglioma syndrome (PGL), associated with germline succinate dehydrogenase

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Jenny Welander, Peter Söderkvist, and Oliver Gimm

historically about 10% of the tumors were associated with hereditary syndromes, mainly multiple endocrine neoplasia type 2 (MEN2), von Hippel–Lindau disease (VHL), and neurofibromatosis type 1 (NF1) ( Maher & Eng 2002 ). A small fraction is associated with

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Asterios Karagiannis, Dimitri P Mikhailidis, Vasilios G Athyros, and Faidon Harsoulis

1994 Bilateral phaeochromocytomas in von Hippel–Lindau disease: diagnosis by adrenal vein sampling and catecholamine assay . Quarterly Journal of Medicine 87 49 – 54 . Choyke PL Glenn GM Walther MM Patronas NJ Linehan WM Zbar B 1995 Von