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Journal Abstract Search

263 related items for PubMed ID: 31615547

  • 1. 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]

  • 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
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  • 3. 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 30; 50(6):466-77. PubMed ID: 21412933
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  • 5. 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
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  • 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 22; 89(1):77-84. PubMed ID: 29157599
    [Abstract] [Full Text] [Related]

  • 7. 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
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  • 8. 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 09; 4(21):. PubMed ID: 27905298
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  • 11. 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 09; 79(4):345-54. PubMed ID: 20618353
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  • 12. 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 Apr 09; 98(2):125-132. PubMed ID: 31266032
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  • 13. Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
    Kayhan G, Yılmaz Demirci N, Turktas H, Ergun MA.
    Genet Test Mol Biomarkers; 2017 Oct 09; 21(10):632-634. PubMed ID: 28805452
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  • 14. Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.
    Zhu JF, Shen XQ, Zhu F, Tian L.
    QJM; 2017 Jan 09; 110(1):23-26. PubMed ID: 27486260
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  • 16. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
    Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH.
    Br J Cancer; 2011 Dec 06; 105(12):1912-9. PubMed ID: 22146830
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  • 17. Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.
    Hu D, Wang R, Liu J, Chen X, Jiang X, Xiao J, Ryu JH, Hu X.
    Orphanet J Rare Dis; 2024 Sep 19; 19(1):348. PubMed ID: 39300538
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  • 18. 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 19; 162(3):527-37. PubMed ID: 19785621
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  • 19. Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.
    Wang Y, Cai M, Jiang X, Lv G, Hu D, Zhang G, Liu J, Wei W, Xiao J, Shen B, Ryu JH, Hu X.
    Orphanet J Rare Dis; 2023 May 12; 18(1):115. PubMed ID: 37170274
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  • 20. 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
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