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Journal Abstract Search

165 related items for PubMed ID: 19116017

  • 1. Folliculin mutations are not associated with severe COPD.
    Cho MH, Klanderman BJ, Litonjua AA, Sparrow D, Silverman EK, Raby BA.
    BMC Med Genet; 2008 Dec 30; 9():120. PubMed ID: 19116017
    [Abstract] [Full Text] [Related]

  • 2. Familial spontaneous pneumothorax.
    Chiu HT, Garcia CK.
    Curr Opin Pulm Med; 2006 Jul 30; 12(4):268-72. PubMed ID: 16825879
    [Abstract] [Full Text] [Related]

  • 3. Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.
    Zhu JF, Shen XQ, Zhu F, Tian L.
    QJM; 2017 Jan 30; 110(1):23-26. PubMed ID: 27486260
    [Abstract] [Full Text] [Related]

  • 4. 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 30; 63(4):103820. PubMed ID: 31778855
    [Abstract] [Full Text] [Related]

  • 5. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
    Wei MH, Blake PW, Shevchenko J, Toro JR.
    Hum Mutat; 2009 Sep 30; 30(9):E880-90. PubMed ID: 19562744
    [Abstract] [Full Text] [Related]

  • 6. 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 Sep 30; 98(2):125-132. PubMed ID: 31266032
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
    Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER.
    Hum Mutat; 2010 Jan 21; 31(1):E1043-51. PubMed ID: 19802896
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 02; 34(4):830-840. PubMed ID: 30360018
    [Abstract] [Full Text] [Related]

  • 11. Birt-Hogg-Dubé syndrome: a large single family cohort.
    Skolnik K, Tsai WH, Dornan K, Perrier R, Burrowes PW, Davidson WJ.
    Respir Res; 2016 Feb 29; 17():22. PubMed ID: 26928018
    [Abstract] [Full Text] [Related]

  • 12. Birt-Hogg-Dubé Syndrome.
    Gupta N, Sunwoo BY, Kotloff RM.
    Clin Chest Med; 2016 Sep 29; 37(3):475-86. PubMed ID: 27514594
    [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 29; 90(5):403-412. PubMed ID: 27220747
    [Abstract] [Full Text] [Related]

  • 14. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
    Hasumi H, Baba M, Hasumi Y, Furuya M, Yao M.
    Int J Urol; 2016 Mar 29; 23(3):204-10. PubMed ID: 26608100
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
    Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.
    Hum Mutat; 2011 Aug 26; 32(8):921-9. PubMed ID: 21538689
    [Abstract] [Full Text] [Related]

  • 17. [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 26; 28(3):355-9. PubMed ID: 21482341
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 4(21):. PubMed ID: 27905298
    [Abstract] [Full Text] [Related]

  • 19. 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 26; 168():105995. PubMed ID: 32469710
    [Abstract] [Full Text] [Related]

  • 20. 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 26; 89(1):77-84. PubMed ID: 29157599
    [Abstract] [Full Text] [Related]

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