Works matching Hereditary leiomyomatosis and renal cell cancer (HLRCC)

Results: 83
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    Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report.

    Published in:
    Familial Cancer, 2021, v. 20, n. 1, p. 75, doi. 10.1007/s10689-020-00195-0
    By:
    • Iribe, Yasuhiro;
    • Furuya, Mitsuko;
    • Shibata, Yousuke;
    • Yasui, Masato;
    • Funahashi, Makoto;
    • Ota, Junichi;
    • Iwashita, Hiromichi;
    • Nagashima, Yoji;
    • Hasumi, Hisashi;
    • Hayashi, Narihiko;
    • Makiyama, Kazuhide;
    • Kondo, Keiichi;
    • Tanaka, Reiko;
    • Yao, Masahiro;
    • Nakaigawa, Noboru
    Publication type:
    Article
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    Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

    Published in:
    Cancers, 2020, v. 12, n. 11, p. 3277, doi. 10.3390/cancers12113277
    By:
    • Sánchez-Heras, A. Beatriz;
    • Castillejo, Adela;
    • García-Díaz, Juan D.;
    • Robledo, Mercedes;
    • Teulé, Alexandre;
    • Sánchez, Rosario;
    • Zúñiga, Ángel;
    • Lastra, Enrique;
    • Durán, Mercedes;
    • Llort, Gemma;
    • Yagüe, Carmen;
    • Ramon y Cajal, Teresa;
    • López San Martin, Consol;
    • López-Fernández, Adrià;
    • Balmaña, Judith;
    • Robles, Luis;
    • Mesa-Latorre, José M.;
    • Chirivella, Isabel;
    • Fonfria, María;
    • Perea Ibañez, Raquel
    Publication type:
    Article
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    Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase–deficient renal cancer.

    Published in:
    Science Signaling, 2021, v. 14, n. 664, p. 1, doi. 10.1126/scisignal.abc4436
    By:
    • Crooks, Daniel R.;
    • Maio, Nunziata;
    • Lang, Martin;
    • Ricketts, Christopher J.;
    • Vocke, Cathy D.;
    • Gurram, Sandeep;
    • Turan, Sevilay;
    • Kim, Yun-Young;
    • Cawthon, G. Mariah;
    • Sohelian, Ferri;
    • De Val, Natalia;
    • Pfeiffer, Ruth M.;
    • Jailwala, Parthav;
    • Tandon, Mayank;
    • Tran, Bao;
    • Fan, Teresa W.-M.;
    • Lane, Andrew N.;
    • Ried, Thomas;
    • Wangsa, Darawalee;
    • Malayeri, Ashkan A.
    Publication type:
    Article
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    Papules on the arms and renal cell carcinoma.

    Published in:
    Clinical & Experimental Dermatology, 2017, v. 42, n. 7, p. 806, doi. 10.1111/ced.13194
    By:
    • Romero ‐ Pérez, D.;
    • Encabo ‐ Durán, B.;
    • Blanes ‐ Martínez, M.;
    • Niverio ‐ de Jaime, M.
    Publication type:
    Article
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    MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

    Published in:
    2016
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    • Kämpjärvi, Kati;
    • Mäkinen, Netta;
    • Mehine, Miika;
    • Välipakka, Salla;
    • Uimari, Outi;
    • Pitkänen, Esa;
    • Heinonen, Hanna-Riikka;
    • Heikkinen, Tuomas;
    • Tolvanen, Jaana;
    • Ahtikoski, Anne;
    • Frizzell, Norma;
    • Sarvilinna, Nanna;
    • Sjöberg, Jari;
    • Bützow, Ralf;
    • Aaltonen, Lauri A;
    • Vahteristo, Pia;
    • Kämpjärvi, Kati;
    • Mäkinen, Netta;
    • Välipakka, Salla;
    • Pitkänen, Esa
    Publication type:
    journal article
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    Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 7, p. 880, doi. 10.1038/sj.ejhg.5201630
    By:
    • Ylisaukko-oja, Sanna K.;
    • Cybulski, Cezary;
    • Lehtonen, Rainer;
    • Kiuru, Maija;
    • Matyjasik, Joanna;
    • Szymañska, Anna;
    • Szymañska-Pasternak, Jolanta;
    • Dyrskjot, Lars;
    • Butzow, Ralf;
    • Orntoft, Torben F;
    • Launonen, Virpi;
    • Lubiñski, Jan;
    • Aaltonen, Lauri A
    Publication type:
    Article
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    No germline FH mutations in familial breast cancer patients.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 4, p. 506, doi. 10.1038/sj.ejhg.5201326
    By:
    • Kiuru, Maija;
    • Lehtonen, Rainer;
    • Eerola, Hannaleena;
    • Aittomäki, Kristiina;
    • Blomqvist, Carl;
    • Nevanlinna, Heli;
    • Aaltonen, Lauri A.;
    • Launonen, Virpi
    Publication type:
    Article
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    Reed syndrome: A varied presentation.

    Published in:
    Indian Dermatology Online Journal, 2021, v. 12, n. 4, p. 628, doi. 10.4103/idoj.IDOJ_501_20
    By:
    • Rani, Seema;
    • Saxena, Singdha;
    • Singh, Sweta;
    • Malhotra, Purnima
    Publication type:
    Article
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    Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.

    Published in:
    Clinical Genetics, 2011, v. 79, n. 1, p. 49, doi. 10.1111/j.1399-0004.2010.01486.x
    By:
    • Smit, D. L.;
    • Mensenkamp, A. R.;
    • Badeloe, S.;
    • Breuning, M. H.;
    • Simon, M. E. H.;
    • Van Spaendonck, K. Y.;
    • Aalfs, C. M.;
    • Post, J. G.;
    • Shanley, S.;
    • Krapels, I. P. C.;
    • Hoefsloot, L. H.;
    • Van Moorselaar, R. J. A.;
    • Starink, T. M.;
    • Bayley, J.-P.;
    • Frank, J.;
    • Van Steensel, M. A. M.;
    • Menko, F. H.
    Publication type:
    Article