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483 related items for PubMed ID: 30632664

  • 21. Birt-Hogg-Dubé syndrome in an overall view: Focus on the clinicopathological prospects in renal tumors.
    Wu J, Lu J, Wu CL, Lu M.
    Semin Diagn Pathol; 2024 May; 41(3):119-124. PubMed ID: 38242750
    [Abstract] [Full Text] [Related]

  • 22. A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.
    Yukawa T, Fukazawa T, Yoshida M, Morita I, Kato K, Monobe Y, Furuya M, Naomoto Y.
    Am J Case Rep; 2016 Oct 26; 17():788-792. PubMed ID: 27780965
    [Abstract] [Full Text] [Related]

  • 23. 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 26; 19(1):87-101. PubMed ID: 28695430
    [Abstract] [Full Text] [Related]

  • 24. Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.
    Dong L, Gao M, Hao WJ, Zheng XQ, Li YG, Li XL, Yu Y.
    Medicine (Baltimore); 2016 May 26; 95(22):e3695. PubMed ID: 27258496
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. 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 21; 66(2):259.e1-9. PubMed ID: 21794948
    [Abstract] [Full Text] [Related]

  • 28. 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 21; 52():74-82. PubMed ID: 26980015
    [Abstract] [Full Text] [Related]

  • 29. 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 21; 4(21):. PubMed ID: 27905298
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. 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 02; 34(4):830-840. PubMed ID: 30360018
    [Abstract] [Full Text] [Related]

  • 32. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
    Liu Y, Xu Z, Feng R, Zhan Y, Wang J, Li G, Li X, Zhang W, Hu X, Tian X, Xu KF, Zhang X.
    Orphanet J Rare Dis; 2017 May 30; 12(1):104. PubMed ID: 28558743
    [Abstract] [Full Text] [Related]

  • 33. [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 May 30; 114(2):61-65. PubMed ID: 38644188
    [Abstract] [Full Text] [Related]

  • 34. 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 30; 63(4):103820. PubMed ID: 31778855
    [Abstract] [Full Text] [Related]

  • 35. Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome.
    Chu L, Luo Y, Chen H, Miao Q, Wang L, Moats R, Wang T, Kennedy JC, Henske EP, Shi W.
    Thorax; 2020 Jun 30; 75(6):486-493. PubMed ID: 32238524
    [Abstract] [Full Text] [Related]

  • 36. [Birt-Hogg-Dubé syndrome: an update].
    López V, Jordá E, Monteagudo C.
    Actas Dermosifiliogr; 2012 Apr 30; 103(3):198-206. PubMed ID: 21937013
    [Abstract] [Full Text] [Related]

  • 37. Distinguishing the histological and radiological features of cystic lung disease in Birt-Hogg-Dubé syndrome from those of tobacco-related spontaneous pneumothorax.
    Fabre A, Borie R, Debray MP, Crestani B, Danel C.
    Histopathology; 2014 Apr 30; 64(5):741-9. PubMed ID: 24168179
    [Abstract] [Full Text] [Related]

  • 38. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax.
    Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, Seyama K.
    J Med Genet; 2007 Sep 30; 44(9):588-93. PubMed ID: 17496196
    [Abstract] [Full Text] [Related]

  • 39. Birt-Hogg-Dubé syndrome with multiple cysts and recurrent pneumothorax: pathological findings.
    Hayashi M, Takayanagi N, Ishiguro T, Sugita Y, Kawabata Y, Fukuda Y.
    Intern Med; 2010 Sep 30; 49(19):2137-42. PubMed ID: 20930443
    [Abstract] [Full Text] [Related]

  • 40. 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]

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