Works matching Birt-Hogg-Dubé syndrome (BHDS)

Results: 162
    1

    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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    Birt-Hogg-Dub renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.

    Published in:
    BMC Medical Genomics, 2010, v. 3, p. 59, doi. 10.1186/1755-8794-3-59
    By:
    • Klomp, Jeff A.;
    • Petillo, David;
    • Niemi, Natalie M.;
    • Dykema, Karl J.;
    • Jindong Chen;
    • Yang, Ximing J.;
    • Sääf, Annika;
    • Zickert, Peter;
    • Aly, Markus;
    • Bergerheim, Ulf;
    • Nordenskjöld, Magnus;
    • Gad, Sophie;
    • Giraud, Sophie;
    • Denoux, Yves;
    • Yonneau, Laurent;
    • Méjean, Arnaud;
    • Vasiliu, Viorel;
    • Richard, Stéphane;
    • MacKeigan, Jeffrey P.;
    • Teh, Bin T.
    Publication type:
    Article
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    Birt-Hogg-Dubé syndrome.

    Published in:
    European Respiratory Review, 2020, v. 29, n. 157, p. 1, doi. 10.1183/16000617.0042-2020
    By:
    • Daccord, Cécile;
    • Good, Jean-Marc;
    • Morren, Marie-Anne;
    • Bonny, Olivier;
    • Hohl, Daniel;
    • Lazor, Romain
    Publication type:
    Article
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    Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2012, v. 104, n. 22, p. 1750, doi. 10.1093/jnci/djs418
    By:
    • Hasumi, Hisashi;
    • Baba, Masaya;
    • Hasumi, Yukiko;
    • Huang, Ying;
    • Oh, Hyoungbin;
    • Hughes, Robert M.;
    • Klein, Mara E.;
    • Takikita, Shoichi;
    • Nagashima, Kunio;
    • Schmidt, Laura S.;
    • Linehan, W. Marston
    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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    H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 2, p. 354, doi. 10.1093/hmg/ddw392
    By:
    • Hisashi Hasumi;
    • Yukiko Hasumi;
    • Baba, Masaya;
    • Hafumi Nishi;
    • Mitsuko Furuya;
    • Vocke, Cathy D.;
    • Lang, Martin;
    • Irie, Nobuko;
    • Chiharu Esumi;
    • Merino, Maria J.;
    • Takashi Kawahara;
    • Yasuhiro Isono;
    • Kazuhide Makiyama;
    • Warner, Andrew C.;
    • Haines, Diana C.;
    • Ming-Hui Wei;
    • Zbar, Berton;
    • Hagenau, Herbert;
    • Feigenbaum, Lionel;
    • Keiichi Kondo
    Publication type:
    Article