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Journal Abstract Search

452 related items for PubMed ID: 29720200

  • 1. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
    Furuya M, Kobayashi H, Baba M, Ito T, Tanaka R, Nakatani Y.
    BMC Med Genomics; 2018 May 02; 11(1):42. PubMed ID: 29720200
    [Abstract] [Full Text] [Related]

  • 2. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
    Liu Y, Xu Z, Feng R, Zhan Y, Wang J, Li G, Li X, Zhang W, Hu X, Tian X, Xu KF, Zhang X.
    Orphanet J Rare Dis; 2017 May 30; 12(1):104. PubMed ID: 28558743
    [Abstract] [Full Text] [Related]

  • 3. Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.
    Gunji-Niitsu Y, Kumasaka T, Kitamura S, Hoshika Y, Hayashi T, Tokuda H, Morita R, Kobayashi E, Mitani K, Kikkawa M, Takahashi K, Seyama K.
    BMC Med Genet; 2016 Nov 21; 17(1):85. PubMed ID: 27871249
    [Abstract] [Full Text] [Related]

  • 4. A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.
    Yukawa T, Fukazawa T, Yoshida M, Morita I, Kato K, Monobe Y, Furuya M, Naomoto Y.
    Am J Case Rep; 2016 Oct 26; 17():788-792. PubMed ID: 27780965
    [Abstract] [Full Text] [Related]

  • 5. Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
    Furuya M, Hong SB, Tanaka R, Kuroda N, Nagashima Y, Nagahama K, Suyama T, Yao M, Nakatani Y.
    Cancer Sci; 2015 Mar 26; 106(3):315-23. PubMed ID: 25594584
    [Abstract] [Full Text] [Related]

  • 6. Birt-Hogg-Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation.
    Hao S, Long F, Sun F, Liu T, Li D, Jiang S.
    BMC Pulm Med; 2017 Feb 21; 17(1):43. PubMed ID: 28222720
    [Abstract] [Full Text] [Related]

  • 7. Unique mutation, accelerated mTOR signaling and angiogenesis in the pulmonary cysts of Birt-Hogg-Dubé syndrome.
    Nishii T, Tanabe M, Tanaka R, Matsuzawa T, Okudela K, Nozawa A, Nakatani Y, Furuya M.
    Pathol Int; 2013 Jan 21; 63(1):45-55. PubMed ID: 23356225
    [Abstract] [Full Text] [Related]

  • 8. Novel germline mutations in FLCN gene identified in two Chinese patients with Birt-Hogg-Dubé syndrome.
    Li T, Ning X, He Q, Gong K.
    Chin J Cancer; 2017 Jan 09; 36(1):4. PubMed ID: 28069055
    [Abstract] [Full Text] [Related]

  • 9. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
    Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.
    BMC Med Genet; 2017 May 12; 18(1):53. PubMed ID: 28499369
    [Abstract] [Full Text] [Related]

  • 10. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
    Liu L, Yang K, Wang X, Shi Z, Yang Y, Yuan Y, Guo T, Xiao X, Luo H.
    Biomed Res Int; 2017 May 12; 2017():8751384. PubMed ID: 28785590
    [Abstract] [Full Text] [Related]

  • 11. Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
    Näf E, Laubscher D, Hopfer H, Streit M, Matyas G.
    Fam Cancer; 2016 Jan 12; 15(1):127-32. PubMed ID: 26342594
    [Abstract] [Full Text] [Related]

  • 12. Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
    Hou X, Zhou Y, Peng Y, Qiu R, Xia K, Tang B, Zhuang W, Jiang H.
    BMC Med Genet; 2018 Jan 22; 19(1):14. PubMed ID: 29357828
    [Abstract] [Full Text] [Related]

  • 13. Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
    Furuya M, Yao M, Tanaka R, Nagashima Y, Kuroda N, Hasumi H, Baba M, Matsushima J, Nomura F, Nakatani Y.
    Clin Genet; 2016 Nov 22; 90(5):403-412. PubMed ID: 27220747
    [Abstract] [Full Text] [Related]

  • 14. A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic.
    Enomoto Y, Namba Y, Hoshika Y, Komemushi Y, Mitani K, Kume H, Kobayashi E, Miyama Y, Homma Y, Ushiku T, Seyama K.
    Eur J Med Genet; 2020 Apr 22; 63(4):103820. PubMed ID: 31778855
    [Abstract] [Full Text] [Related]

  • 15. Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review.
    Furuya M, Nakatani Y.
    Pathol Int; 2019 Jan 22; 69(1):1-12. PubMed ID: 30632664
    [Abstract] [Full Text] [Related]

  • 16. Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
    Liu K, Xu W, Tian X, Xiao M, Zhao X, Zhang Q, Qu T, Song J, Liu Y, Xu KF, Zhang X.
    Orphanet J Rare Dis; 2019 Oct 15; 14(1):223. PubMed ID: 31615547
    [Abstract] [Full Text] [Related]

  • 17. Partial pleural covering for intractable pneumothorax in patients with Birt-Hogg-Dubé Syndrome.
    Okada A, Hirono T, Watanabe T, Hasegawa G, Tanaka R, Furuya M.
    Clin Respir J; 2017 Mar 15; 11(2):224-229. PubMed ID: 26073198
    [Abstract] [Full Text] [Related]

  • 18. Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.
    Marziali V, Geropoulos G, Frasca L, Longo F, Patrini D, Panagiotopoulos N, Crucitti P.
    Respir Med; 2020 Jul 15; 168():105995. PubMed ID: 32469710
    [Abstract] [Full Text] [Related]

  • 19. Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.
    Furuya M, Hasumi H, Baba M, Tanaka R, Iribe Y, Onishi T, Nagashima Y, Nakatani Y, Isono Y, Yao M.
    Lab Invest; 2017 Mar 15; 97(3):343-351. PubMed ID: 27991910
    [Abstract] [Full Text] [Related]

  • 20. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.
    Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K.
    J Med Genet; 2007 Sep 15; 44(9):588-93. PubMed ID: 17496196
    [Abstract] [Full Text] [Related]

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