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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
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  • 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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  • 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 15; 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 15; 98(2):125-132. PubMed ID: 31266032
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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 15; 4(21):. PubMed ID: 27905298
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  • 13. 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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  • 14. 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
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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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