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Journal Abstract Search

227 related items for PubMed ID: 27229674

  • 1. 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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  • 4. Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
    Ray A, Chattopadhyay E, Singh R, Ghosh S, Bera A, Sarma M, Munot M, Desai U, Rajan S, Prabhudesai P, Prakash AK, Roy Chowdhury S, Bhowmick N, Dhar R, Udwadia ZF, Dey A, Mitra S, Joshi JM, Maitra A, Roy B.
    Orphanet J Rare Dis; 2022 Apr 27; 17(1):176. PubMed ID: 35477461
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  • 9. 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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  • 10. 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 22; 47(4):281-7. PubMed ID: 20413710
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  • 14. 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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  • 15. Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.
    Liu Y, Xing H, Huang Y, Meng S, Wang J.
    Eur J Cardiothorac Surg; 2020 Jan 01; 57(1):39-45. PubMed ID: 31177286
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  • 16. A splicing mutation of the FLCN gene is associated with Birt-Hogg-Dubé syndrome characterized by familial and recurrent spontaneous pneumothorax: A case report.
    Xiao H, Chi F, Li S, Wang T, Bai B, Hou J, Ge X.
    Medicine (Baltimore); 2023 Jul 07; 102(27):e34241. PubMed ID: 37417625
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  • 17. Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
    Sattler EC, Steinlein OK.
    BMC Med Genet; 2018 Mar 16; 19(1):45. PubMed ID: 29548312
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  • 19. 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 16; 4(21):. PubMed ID: 27905298
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