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271 related items for PubMed ID: 20413710

  • 1. Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
    Kunogi M, Kurihara M, Ikegami TS, Kobayashi T, Shindo N, Kumasaka T, Gunji Y, Kikkawa M, Iwakami S, Hino O, Takahashi K, Seyama K.
    J Med Genet; 2010 Apr; 47(4):281-7. PubMed ID: 20413710
    [Abstract] [Full Text] [Related]

  • 2. Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome.
    Hoshika Y, Takahashi F, Togo S, Hashimoto M, Nara T, Kobayashi T, Nurwidya F, Kataoka H, Kurihara M, Kobayashi E, Ebana H, Kikkawa M, Ando K, Nishino K, Hino O, Takahashi K, Seyama K.
    Physiol Rep; 2016 Nov; 4(21):. PubMed ID: 27905298
    [Abstract] [Full Text] [Related]

  • 3. 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; 44(9):588-93. PubMed ID: 17496196
    [Abstract] [Full Text] [Related]

  • 4. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
    Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D.
    Br J Dermatol; 2010 Mar; 162(3):527-37. PubMed ID: 19785621
    [Abstract] [Full Text] [Related]

  • 5. Birt-Hogg-Dubé syndrome: diagnosis and management.
    Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, European BHD Consortium.
    Lancet Oncol; 2009 Dec; 10(12):1199-206. PubMed ID: 19959076
    [Abstract] [Full Text] [Related]

  • 6. Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.
    Iwabuchi C, Ebana H, Ishiko A, Negishi A, Mizobuchi T, Kumasaka T, Kurihara M, Seyama K.
    J Dermatol Sci; 2018 Jan; 89(1):77-84. PubMed ID: 29157599
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax.
    Zhang X, Ma D, Zou W, Ding Y, Zhu C, Min H, Zhang B, Wang W, Chen B, Ye M, Cai M, Pan Y, Cao L, Wan Y, Jin Y, Gao Q, Yi L.
    Respir Res; 2016 May 27; 17(1):64. PubMed ID: 27229674
    [Abstract] [Full Text] [Related]

  • 9. The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
    Torricelli E, Occhipinti M, Cavigli E, Tancredi G, Rosi E, Rossi C, Bonaguro M, Candita L, Papi L, Novelli L, Bezzi M, Bargagli E, Voltolini L, Pistolesi M.
    Respiration; 2019 May 27; 98(2):125-132. PubMed ID: 31266032
    [Abstract] [Full Text] [Related]

  • 10. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
    Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA, Linehan WM.
    Genes Chromosomes Cancer; 2011 Jun 27; 50(6):466-77. PubMed ID: 21412933
    [Abstract] [Full Text] [Related]

  • 11. Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.
    Zhang G, Liu J, Wang Y, Wang Y, Jiang X, Peng Y, Xiao J, Wei W, Shen B, Yi L, Ryu JH, Hu X.
    Orphanet J Rare Dis; 2022 May 16; 17(1):203. PubMed ID: 35578266
    [Abstract] [Full Text] [Related]

  • 12. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
    Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM.
    Am J Respir Crit Care Med; 2007 May 15; 175(10):1044-53. PubMed ID: 17322109
    [Abstract] [Full Text] [Related]

  • 13. Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.
    Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW.
    Korean J Intern Med; 2019 Jul 15; 34(4):830-840. PubMed ID: 30360018
    [Abstract] [Full Text] [Related]

  • 14. [Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].
    Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G.
    Rev Mal Respir; 2011 Mar 15; 28(3):355-9. PubMed ID: 21482341
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 63(1):45-55. PubMed ID: 23356225
    [Abstract] [Full Text] [Related]

  • 16. Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
    Furuya M, Nakatani Y.
    J Clin Pathol; 2013 Mar 15; 66(3):178-86. PubMed ID: 23223565
    [Abstract] [Full Text] [Related]

  • 17. Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.
    Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo A, Carloni A, Poletti V, Tomassetti S, Ginardi C, Ungari S, Genuardi M.
    Clin Genet; 2011 Apr 15; 79(4):345-54. PubMed ID: 20618353
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A Japanese family with multiple lung cysts and recurrent pneumothorax: a possibility of Birt-Hogg-Dubé syndrome.
    Ishii H, Oka H, Amemiya Y, Iwata A, Otani S, Kishi K, Shirai R, Tokimatsu I, Kawahara K, Kadota J.
    Intern Med; 2009 Nov 21; 48(16):1413-7. PubMed ID: 19687589
    [Abstract] [Full Text] [Related]

  • 20. Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.
    Alonso-González J, Rodríguez-Pazos L, Fernández-Redondo V, Vega-Gliemmo A, Toribio J.
    Int J Dermatol; 2011 Aug 21; 50(8):968-71. PubMed ID: 21781069
    [Abstract] [Full Text] [Related]

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