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Journal Abstract Search

254 related items for PubMed ID: 36440963

  • 1. PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
    van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC.
    Hum Mol Genet; 2023 Mar 20; 32(7):1223-1235. PubMed ID: 36440963
    [Abstract] [Full Text] [Related]

  • 2. PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
    Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W.
    Urology; 2023 Sep 20; 179():58-70. PubMed ID: 37331486
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  • 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 20; 15(1):127-32. PubMed ID: 26342594
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  • 4. 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 20; 106(3):315-23. PubMed ID: 25594584
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  • 5. 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 20; 63(4):103820. PubMed ID: 31778855
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  • 6. 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 20; 97(3):343-351. PubMed ID: 27991910
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  • 7. Pathology of Birt-Hogg-Dubé syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review.
    Furuya M, Nakatani Y.
    Pathol Int; 2019 Jan 20; 69(1):1-12. PubMed ID: 30632664
    [Abstract] [Full Text] [Related]

  • 8. 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 20; 23(3):204-10. PubMed ID: 26608100
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  • 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 20; 90(5):403-412. PubMed ID: 27220747
    [Abstract] [Full Text] [Related]

  • 11. 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 20; 149(6):2319-2325. PubMed ID: 36258004
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  • 12. Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
    Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH.
    J Am Acad Dermatol; 2012 Feb 20; 66(2):259.e1-9. PubMed ID: 21794948
    [Abstract] [Full Text] [Related]

  • 13. 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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  • 15. A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient.
    Bandini E, Zampiga V, Cangini I, Ravegnani M, Arcangeli V, Rossi T, Mammi I, Schiavi F, Zovato S, Falcini F, Calistri D, Danesi R.
    Int J Mol Sci; 2023 Aug 04; 24(15):. PubMed ID: 37569793
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  • 16. FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.
    Hofstedter R, Sanabria-Salas MC, Di Jiang M, Ezzat S, Mete O, Kim RH.
    Endocr Pathol; 2023 Jun 04; 34(2):257-264. PubMed ID: 36701047
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  • 18. Fluorescent and chromogenic in situ hybridization of CEN17q as a potent useful diagnostic marker for Birt-Hogg-Dubé syndrome-associated chromophobe renal cell carcinomas.
    Kato I, Iribe Y, Nagashima Y, Kuroda N, Tanaka R, Nakatani Y, Hasumi H, Yao M, Furuya M.
    Hum Pathol; 2016 Jun 04; 52():74-82. PubMed ID: 26980015
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  • 19. A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
    Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM.
    Am J Med Genet A; 2023 Feb 04; 191(2):490-497. PubMed ID: 36513625
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