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364 related items for PubMed ID: 31778855

  • 1. 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; 63(4):103820. PubMed ID: 31778855
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(3):204-10. PubMed ID: 26608100
    [Abstract] [Full Text] [Related]

  • 3. Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.
    Näf E, Laubscher D, Hopfer H, Streit M, Matyas G.
    Fam Cancer; 2016 Jan; 15(1):127-32. PubMed ID: 26342594
    [Abstract] [Full Text] [Related]

  • 4. Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.
    Li J, Liu F, Liu X, Hu Y, Liu Z, Shen Y, Wan J.
    J Cancer Res Clin Oncol; 2023 Jun; 149(6):2319-2325. PubMed ID: 36258004
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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; 106(3):315-23. PubMed ID: 25594584
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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 21; 90(5):403-412. PubMed ID: 27220747
    [Abstract] [Full Text] [Related]

  • 11. [DIAGNOSIS OF GENETIC VARIANT CARRIERS IN A PATIENT WITH ASYMPTOMATIC BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT].
    Watari S, Ichikawa T, Hirasawa A, Shiraishi H, Tokunaga M, Kubota R, Kusumi N, Tsushima T, Shinno Y, Furuya M.
    Nihon Hinyokika Gakkai Zasshi; 2023 Nov 21; 114(2):61-65. PubMed ID: 38644188
    [Abstract] [Full Text] [Related]

  • 12. [Birt-Hogg-Dubé syndrome: an update].
    López V, Jordá E, Monteagudo C.
    Actas Dermosifiliogr; 2012 Apr 21; 103(3):198-206. PubMed ID: 21937013
    [Abstract] [Full Text] [Related]

  • 13. A vestibular schwannoma in a patient with Birt-Hogg-Dube syndrome.
    De Keyzer L, De Leenheer EM, Claes K, Janssens S.
    Genet Couns; 2014 Apr 21; 25(2):203-8. PubMed ID: 25059020
    [Abstract] [Full Text] [Related]

  • 14. Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.
    Furuya M, Hasumi H, Baba M, Tanaka R, Iribe Y, Onishi T, Nagashima Y, Nakatani Y, Isono Y, Yao M.
    Lab Invest; 2017 Mar 21; 97(3):343-351. PubMed ID: 27991910
    [Abstract] [Full Text] [Related]

  • 15. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
    Bartram MP, Mishra T, Reintjes N, Fabretti F, Gharbi H, Adam AC, Göbel H, Franke M, Schermer B, Haneder S, Benzing T, Beck BB, Müller RU.
    BMC Med Genet; 2017 May 12; 18(1):53. PubMed ID: 28499369
    [Abstract] [Full Text] [Related]

  • 16. 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 12; 98(2):125-132. PubMed ID: 31266032
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. A novel missense mutation in the folliculin gene associated with the renal tumor-only phenotype of Birt-Hogg-Dubé syndrome.
    Sano T, Fukui T, Makita N, Shimizu K, Kono J, Masui K, Sato T, Goto T, Sawada A, Fujimoto M, Kojima F, Torishima M, Wada T, Furuya M, Ogawa O, Kobayashi T, Akamatsu S.
    Cancer Genet; 2022 Aug 15; 266-267():28-32. PubMed ID: 35691222
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 53(2):151-4. PubMed ID: 22571569
    [Abstract] [Full Text] [Related]

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