Works matching Birt-Hogg-Dubé syndrome (BHDS)

Results: 165
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    Clinical and genetic features of 334 Asian patients with Birt–Hogg–Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.

    Published in:
    PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0289175
    By:
    • Namba, Yukiko;
    • Ebana, Hiroki;
    • Okamoto, Shouichi;
    • Kobayashi, Etsuko;
    • Kurihara, Masatoshi;
    • Sekimoto, Yasuhito;
    • Tsuboshima, Kenji;
    • Okura, Makiko Kunogi;
    • Mitsuishi, Yoichiro;
    • Takahashi, Kazuhisa;
    • Seyama, Kuniaki
    Publication type:
    Article
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    Renal oncocytosis.

    Published in:
    Pathology International, 2005, v. 55, n. 4, p. 210, doi. 10.1111/j.1440-1827.2005.01813.x
    By:
    • Nagashima, Yoji;
    • Mitsuya, Toshiyuki;
    • Shioi, Ko-ich;
    • Noguchi, Sumio;
    • Kishida, Takeshi;
    • Hamano, Atsushi;
    • Ohgo, Yoshiharu;
    • Tsuura, Yukio;
    • Ogawa, Toru;
    • Aoki, Ichiro;
    • Yao, Masahiro
    Publication type:
    Article
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    Multiple white facial papules.

    Published in:
    Clinical & Experimental Dermatology, 2009, v. 34, n. 7, p. 841, doi. 10.1111/j.1365-2230.2008.03023.x
    By:
    • Seelhammer, T.;
    • Cham, P. M. H.;
    • Suwattee, P.
    Publication type:
    Article
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    Folliculin Regulates Ampk-Dependent Autophagy and Metabolic Stress Survival.

    Published in:
    PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004273
    By:
    • Possik, Elite;
    • Jalali, Zahra;
    • Nouët, Yann;
    • Yan, Ming;
    • Gingras, Marie-Claude;
    • Schmeisser, Kathrin;
    • Panaite, Lorena;
    • Dupuy, Fanny;
    • Kharitidi, Dmitri;
    • Chotard, Laëtitia;
    • Jones, Russell G.;
    • Hall, David H.;
    • Pause, Arnim
    Publication type:
    Article
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    The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2640, doi. 10.1172/JCI71749
    By:
    • Ming Yan;
    • Gingras, Marie-Claude;
    • Dunlop, Elaine A.;
    • Nouët, Yann;
    • Dupuy, Fanny;
    • Jalali, Zahra;
    • Possik, Elite;
    • Coull, Barry J.;
    • Kharitidi, Dmitri;
    • Bondo Dydensborg, Anders;
    • Faubert, Brandon;
    • Kamps, Miriam;
    • Sabourin, Sylvie;
    • Preston, Rachael S.;
    • Davies, David Mark;
    • Roughead, Taren;
    • Chotard, Laëtitia;
    • van Steensel, Maurice A. M.;
    • Jones, Russell;
    • Tee, Andrew R.
    Publication type:
    Article
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    PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288
    By:
    • van de Beek, Irma;
    • Glykofridis, Iris E;
    • Oosterwijk, Jan C;
    • Akker, Peter C van den;
    • Diercks, Gilles F H;
    • Bolling, Maria C;
    • Waisfisz, Quinten;
    • Mensenkamp, Arjen R;
    • Balk, Jesper A;
    • Zwart, Rob;
    • Postma, Alex V;
    • Meijers-Heijboer, Hanne E J;
    • Moorselaar, R Jeroen A van;
    • Wolthuis, Rob M F;
    • Houweling, Arjan C
    Publication type:
    Article
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