Works matching Von Hippel-Lindau (VHL) disease

Results: 456
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    Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting.

    Published in:
    Egyptian Journal of Medical Human Genetics, 2022, n. 1, p. 1, doi. 10.1186/s43042-022-00338-1
    By:
    • Dwivedi, Aradhana;
    • Moirangthem, Amita;
    • Pandey, Himani;
    • Sharma, Pankaj;
    • Srivastava, Priyanka;
    • Yadav, Prabhaker;
    • Saxena, Deepti;
    • Phadke, Shubha;
    • Dabadghao, Preeti;
    • Gupta, Neerja;
    • Kabra, Madhulika;
    • Goyal, Rekha;
    • Biswas, Rituparna;
    • Mangaraj, Swayamsidha;
    • Bhar, Debarati;
    • Chowdhury, Subhankar;
    • Agarwal, Amit;
    • Mandal, Kausik
    Publication type:
    Article
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    Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

    Published in:
    Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951
    By:
    • Lammens, C. R. M.;
    • Bleiker, E. M. A.;
    • Verhoef, S.;
    • Ausems, M. G. E. M.;
    • Majoor‐Krakauer, D.;
    • Sijmons, R. H.;
    • Hes, F. J.;
    • Gómez‐García, E. B.;
    • Van Os, T. A. M.;
    • Spruijt, L.;
    • van der Luijt, R. B.;
    • van den Ouweland, A. M. W.;
    • Ruijs, M. W. G.;
    • Gundy, C.;
    • Nagtegaal, T.;
    • Aaronson, N. K.
    Publication type:
    Article
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    Germline mutations in the Von Hippel-Lindau disease ( VHL) gene in families from North America, Europe, and Japan.

    Published in:
    Human Mutation, 1996, v. 8, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3
    By:
    • Zbar, Berton;
    • Kishida, Takeshi;
    • Chen, Fan;
    • Schmidt, Laura;
    • Maher, Eamonn R.;
    • Richards, Frances M.;
    • Crossey, Paul A.;
    • Webster, Andrew R.;
    • Affara, Nabeel A.;
    • Ferguson-Smith, Malcolm A.;
    • Brauch, Hiltrud;
    • Glavac, Damjan;
    • Neumann, Hartmut P.H.;
    • Tisherman, Sam;
    • Mulvihill, John J.;
    • Gross, David J.;
    • Shuin, Taro;
    • Whaley, Jean;
    • Seizinger, Berndt;
    • Kley, Nickolai
    Publication type:
    Article
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    Mutation in Chek2 triggers von Hippel-Lindau hemangioblastoma growth.

    Published in:
    Acta Neurochirurgica, 2023, v. 165, n. 12, p. 4241, doi. 10.1007/s00701-023-05825-x
    By:
    • Cabrera-Montes, Jorge;
    • Aguirre, Daniel T.;
    • Viñas-López, Jesús;
    • Lorente-Herraiz, Laura;
    • Recio-Poveda, Lucía;
    • Albiñana, Virginia;
    • Pérez-Pérez, Julián;
    • Botella, Luisa M.;
    • Cuesta, Angel M.
    Publication type:
    Article
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    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.

    Published in:
    Clinical Genetics, 2007, v. 72, n. 2, p. 122, doi. 10.1111/j.1399-0004.2007.00827.x
    By:
    • Hes, F. J.;
    • van der Luijt, R. B.;
    • Janssen, A. L. W.;
    • Zewald, R. A.;
    • de Jong, G. J.;
    • Lenders, J. W.;
    • Links, T. P.;
    • Luyten, G. P. M.;
    • Sijmons, R. H.;
    • Eussen, H. J.;
    • Halley, D. J. J.;
    • Lips, C. J. M.;
    • Pearson, P. L.;
    • van den Ouweland, A. M. W.;
    • Majoor-Krakauer, D. F.
    Publication type:
    Article
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    Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.

    Published in:
    Clinical Pediatric Endocrinology, 2024, v. 33, n. 4, p. 229, doi. 10.1297/cpe.2024-0020
    By:
    • Yuri Suzuki;
    • Ryosei Iemura;
    • Akito Sutani;
    • Yuki Mizuno;
    • Eriko Adachi;
    • Mineko Ushiama;
    • Teruhiko Yoshida;
    • Makoto Hirata;
    • Akihiro Hoshino;
    • Kurara Yamomoto;
    • Takumi Akashi;
    • Yoshiko Nakano;
    • Takeshi Isoda;
    • Kei Takasawa;
    • Motohiro Kato;
    • Masatoshi Takagi;
    • Kentaro Okamoto;
    • Tomohiro Morio;
    • Kenichi Kashimada
    Publication type:
    Article
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