Works matching Hereditary leiomyomatosis and renal cell cancer (HLRCC)

Results: 81
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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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    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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    Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 3071, doi. 10.1210/jc.2006-0183
    By:
    • Carvajal-Carmona, Luis G.;
    • Alam, N. Afrina;
    • Pollard, Patrick J.;
    • Jones, Angela M.;
    • Barclay, Ella;
    • Wortham, Noel;
    • Pignatelli, Massimo;
    • Freeman, Alex;
    • Pomplun, Sabine;
    • Ellis, Ian;
    • Poulsom, Richard;
    • El-Bahrawy, Mona A.;
    • Berney, Daniel M.;
    • Tomlinson, Ian P. M.
    Publication type:
    Article
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    Hereditary Leiomyomatosis Associated with Bilateral, Massive, Macronodular Adrenocortical Disease and Atypical Cushing Syndrome: A Clinical and Molecular Genetic Investigation.

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    Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 3773, doi. 10.1210/jc.2004-2377
    By:
    • Matyakhina, Ludmila;
    • Freedman, Reneé J.;
    • Bourdeau, Isabelle;
    • Ming-Hui Wei;
    • Stergiopoulos, Sotirios G.;
    • Chidakel, Aaron;
    • Walther, McClellan;
    • Abu-Asab, Mones;
    • Tsokos, Maria;
    • Keil, Meg;
    • Toro, Jorge;
    • Linehan, W. Marston;
    • Stratakis, Constantine A.
    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
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    Fumarate Hydratase Deficiency in Renal Cancer Induces Glycolytic Addiction and Hypoxia-Inducible Transcription Factor 1α Stabilization by Glucose-Dependent Generation of Reactive Oxygen Species.

    Published in:
    Molecular & Cellular Biology, 2009, v. 29, n. 15, p. 4080, doi. 10.1128/MCB.00483-09
    By:
    • Sudarshan, Sunil;
    • Sourbier, Carole;
    • Hye-Sik Kong;
    • Block, Karen;
    • Romero, Vladimir A. Valera;
    • Youfeng Yang;
    • Galindo, Cynthia;
    • Mollapour, Mehdi;
    • Scroggins, Bradley;
    • Goode, Norman;
    • Min-Jung Lee;
    • Gourlay, Campbell W.;
    • Trepel, Jane;
    • Linehan, W. Marston;
    • Neckers, Len
    Publication type:
    Article
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    Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88585-x
    By:
    • Bateman, Nicholas W.;
    • Tarney, Christopher M.;
    • Abulez, Tamara;
    • Soltis, Anthony R.;
    • Zhou, Ming;
    • Conrads, Kelly;
    • Litzi, Tracy;
    • Oliver, Julie;
    • Hood, Brian;
    • Driggers, Paul;
    • Viollet, Coralie;
    • Dalgard, Clifton;
    • Wilkerson, Matthew;
    • Catherino, William;
    • Hamilton, Chad A.;
    • Darcy, Kathleen M.;
    • Casablanca, Yovanni;
    • Al-Hendy, Ayman;
    • Segars, James;
    • Conrads, Thomas P.
    Publication type:
    Article
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    Synthetically Lethal Interactions of Heme Oxygenase-1 and Fumarate Hydratase Genes.

    Published in:
    Biomolecules (2218-273X), 2020, v. 10, n. 1, p. 1, doi. 10.3390/biom10010143
    By:
    • Podkalicka, Paulina;
    • Mucha, Olga;
    • Kruczek, Szczepan;
    • Biela, Anna;
    • Andrysiak, Kalina;
    • Stȩpniewski, Jacek;
    • Mikulski, Maciej;
    • Gałȩzowski, Michał;
    • Sitarz, Kamil;
    • Brzózka, Krzysztof;
    • Józkowicz, Alicja;
    • Dulak, Józef;
    • Łoboda, Agnieszka
    Publication type:
    Article
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