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Journal Abstract Search

597 related items for PubMed ID: 26342594

  • 21.
    ; . PubMed ID:
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  • 22. Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.
    Sattler EC, Steinlein OK.
    BMC Med Genet; 2018 Mar 16; 19(1):45. PubMed ID: 29548312
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  • 23.
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  • 24. Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
    Liu L, Yang K, Wang X, Shi Z, Yang Y, Yuan Y, Guo T, Xiao X, Luo H.
    Biomed Res Int; 2017 Mar 16; 2017():8751384. PubMed ID: 28785590
    [Abstract] [Full Text] [Related]

  • 25. Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
    Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM, Genetic Susceptibility Working Group I-CONFIRM.
    J Med Genet; 2023 Apr 16; 60(4):317-326. PubMed ID: 36849229
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé syndrome.
    Iribe Y, Kuroda N, Nagashima Y, Yao M, Tanaka R, Gotoda H, Kawakami F, Imamura Y, Nakamura Y, Ando M, Araki A, Matsushima J, Nakatani Y, Furuya M.
    Pathol Int; 2015 Mar 12; 65(3):126-32. PubMed ID: 25597876
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  • 28.
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  • 29. Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin.
    Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, Pause A.
    J Med Genet; 2010 Mar 12; 47(3):182-9. PubMed ID: 19843504
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  • 30.
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  • 31. [Multiple spontaneous pneumothoraces revealing Birt-Hogg-Dube syndrome].
    Van Denhove A, Guillot-Pouget I, Giraud S, Isaac S, Freymond N, Calender A, Pacheco Y, Devouassoux G.
    Rev Mal Respir; 2011 Mar 12; 28(3):355-9. PubMed ID: 21482341
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  • 32.
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  • 33. 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 12; 34(2):257-264. PubMed ID: 36701047
    [Abstract] [Full Text] [Related]

  • 34. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
    Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV.
    J Hum Genet; 2017 Feb 12; 62(2):151-157. PubMed ID: 27734835
    [Abstract] [Full Text] [Related]

  • 35. Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report.
    Furuya M, Kobayashi H, Baba M, Ito T, Tanaka R, Nakatani Y.
    BMC Med Genomics; 2018 May 02; 11(1):42. PubMed ID: 29720200
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.
    Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR.
    Am J Clin Dermatol; 2018 Feb 20; 19(1):87-101. PubMed ID: 28695430
    [Abstract] [Full Text] [Related]

  • 38. Birt-Hogg-Dubé Syndrome.
    Gupta N, Sunwoo BY, Kotloff RM.
    Clin Chest Med; 2016 Sep 20; 37(3):475-86. PubMed ID: 27514594
    [Abstract] [Full Text] [Related]

  • 39. [Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].
    Expert Consensus Group of the Expert Consensus on the Diagnosis and Management of Birt-Hogg-Dubé Syndrome, China Alliance for the Rare Lung Disease, Chinese Thoracic Society, Chinese Medical Association, Southern China Rare Lung Disease Committee of China Primary Health Care Foundation.
    Zhonghua Jie He He Hu Xi Za Zhi; 2023 Sep 12; 46(9):897-908. PubMed ID: 37670643
    [Abstract] [Full Text] [Related]

  • 40. Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dubé syndrome.
    Yang CY, Wang HC, Chen JS, Yu CJ.
    J Postgrad Med; 2013 Sep 12; 59(4):321-3. PubMed ID: 24346394
    [Abstract] [Full Text] [Related]

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