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Journal Abstract Search

228 related items for PubMed ID: 21412933

  • 1. 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; 50(6):466-77. PubMed ID: 21412933
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [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 12; 63(4):103820. PubMed ID: 31778855
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.
    Miao H, Zhou Y, Ge S, Gu Y, Qu L, Zhou W, He H.
    Mol Genet Genomic Med; 2024 Jul 27; 12(7):e2488. PubMed ID: 38963008
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.
    Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA.
    BMC Med Genomics; 2010 Dec 16; 3():59. PubMed ID: 21162720
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 27; 50(8):968-71. PubMed ID: 21781069
    [Abstract] [Full Text] [Related]

  • 12. 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 27; 21(10):632-634. PubMed ID: 28805452
    [Abstract] [Full Text] [Related]

  • 13. 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 27; 79(4):345-54. PubMed ID: 20618353
    [Abstract] [Full Text] [Related]

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  • 15. 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]

  • 16. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.
    Byrne M, Mallipeddi R, Pichert G, Whittaker S.
    Australas J Dermatol; 2012 May 22; 53(2):151-4. PubMed ID: 22571569
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  • 18. 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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  • 20. 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 22; 106(3):315-23. PubMed ID: 25594584
    [Abstract] [Full Text] [Related]

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