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Journal Abstract Search

220 related items for PubMed ID: 34229741

  • 1. Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.
    Radzikowska E, Lechowicz U, Winek J, Opoka L.
    Orphanet J Rare Dis; 2021 Jul 06; 16(1):302. PubMed ID: 34229741
    [Abstract] [Full Text] [Related]

  • 2. 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 06; 53(2):151-4. PubMed ID: 22571569
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  • 3. 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
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  • 4. 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 15; 34(4):830-840. PubMed ID: 30360018
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  • 5. Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.
    Zhang G, Liu J, Wang Y, Wang Y, Jiang X, Peng Y, Xiao J, Wei W, Shen B, Yi L, Ryu JH, Hu X.
    Orphanet J Rare Dis; 2022 May 16; 17(1):203. PubMed ID: 35578266
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  • 7. 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 16; 63(4):103820. PubMed ID: 31778855
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  • 8. 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 16; 98(2):125-132. PubMed ID: 31266032
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  • 9. 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 16; 50(6):466-77. PubMed ID: 21412933
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  • 10. 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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  • 12. Birt-Hogg-Dubé syndrome in a patient with melanoma and a novel mutation in the FCLN gene.
    Mota-Burgos A, Acosta EH, Márquez FV, Mendiola M, Herrera-Ceballos E.
    Int J Dermatol; 2013 Mar 16; 52(3):323-6. PubMed ID: 23414156
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  • 15. Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.
    Balsamo F, Cardoso PAS, do Amaral Junior SA, Theodoro TR, de Sousa Gehrke F, da Silva Pinhal MA, Bianco B, Waisberg J.
    BMC Med Genet; 2020 Mar 14; 21(1):52. PubMed ID: 32171268
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  • 16. 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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  • 18. 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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  • 20. 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
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