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Journal Abstract Search

248 related items for PubMed ID: 19802896

  • 1. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
    Lim DH, Rehal PK, Nahorski MS, Macdonald F, Claessens T, Van Geel M, Gijezen L, Gille JJ, Giraud S, Richard S, van Steensel M, Menko FH, Maher ER.
    Hum Mutat; 2010 Jan; 31(1):E1043-51. PubMed ID: 19802896
    [Abstract] [Full Text] [Related]

  • 2. Birt-Hogg-Dubé (BHD) syndrome: report of two novel germline mutations in the folliculin (FLCN) gene.
    Palmirotta R, Donati P, Savonarola A, Cota C, Ferroni P, Guadagni F.
    Eur J Dermatol; 2008 Jan; 18(4):382-6. PubMed ID: 18573707
    [Abstract] [Full Text] [Related]

  • 3. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
    Nahorski MS, Lim DH, Martin L, Gille JJ, McKay K, Rehal PK, Ploeger HM, van Steensel M, Tomlinson IP, Latif F, Menko FH, Maher ER.
    J Med Genet; 2010 Jun; 47(6):385-90. PubMed ID: 20522427
    [Abstract] [Full Text] [Related]

  • 4. Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms.
    Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G.
    Hum Pathol; 2009 Dec; 40(12):1813-9. PubMed ID: 19733897
    [Abstract] [Full Text] [Related]

  • 5. [Birt-Hogg-Dubé syndrome].
    Rehfeld A, van Steensel MA, Friis-Hansen L.
    Ugeskr Laeger; 2010 Jul 19; 172(29):2085-90. PubMed ID: 20633341
    [Abstract] [Full Text] [Related]

  • 6. 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 19; 44(9):588-93. PubMed ID: 17496196
    [Abstract] [Full Text] [Related]

  • 7. [Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk].
    Johannesma PC, Lammers JW, van Moorselaar RJ, Starink TM, Postmus PE, Menko FH.
    Ned Tijdschr Geneeskd; 2009 Sep 19; 153():A581. PubMed ID: 19857281
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.
    Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L.
    Clin Genet; 2008 Aug 19; 74(2):178-83. PubMed ID: 18505456
    [Abstract] [Full Text] [Related]

  • 9. Familial spontaneous pneumothorax.
    Chiu HT, Garcia CK.
    Curr Opin Pulm Med; 2006 Jul 19; 12(4):268-72. PubMed ID: 16825879
    [Abstract] [Full Text] [Related]

  • 10. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
    Wei MH, Blake PW, Shevchenko J, Toro JR.
    Hum Mutat; 2009 Sep 19; 30(9):E880-90. PubMed ID: 19562744
    [Abstract] [Full Text] [Related]

  • 11. 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 19; 66(2):259.e1-9. PubMed ID: 21794948
    [Abstract] [Full Text] [Related]

  • 12. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
    Kluger N, Giraud S, Coupier I, Avril MF, Dereure O, Guillot B, Richard S, Bessis D.
    Br J Dermatol; 2010 Mar 19; 162(3):527-37. PubMed ID: 19785621
    [Abstract] [Full Text] [Related]

  • 13. [Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy].
    Steff M, Bourillon A, Frebourg T, Balderi X, Descamps V, Joly P, Piette F, Crestani B, Grandchamp B, Soufir N.
    Ann Dermatol Venereol; 2010 Mar 19; 137(3):203-7. PubMed ID: 20227563
    [Abstract] [Full Text] [Related]

  • 14. Association between Birt Hogg Dube syndrome and cancer predisposition.
    Palmirotta R, Savonarola A, Ludovici G, Donati P, Cavaliere F, DE Marchis ML, Ferroni P, Guadagni F.
    Anticancer Res; 2010 Mar 19; 30(3):751-7. PubMed ID: 20392993
    [Abstract] [Full Text] [Related]

  • 15. Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein.
    Takagi Y, Kobayashi T, Shiono M, Wang L, Piao X, Sun G, Zhang D, Abe M, Hagiwara Y, Takahashi K, Hino O.
    Oncogene; 2008 Sep 11; 27(40):5339-47. PubMed ID: 18663353
    [Abstract] [Full Text] [Related]

  • 16. Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.
    Graham RB, Nolasco M, Peterlin B, Garcia CK.
    Am J Respir Crit Care Med; 2005 Jul 01; 172(1):39-44. PubMed ID: 15805188
    [Abstract] [Full Text] [Related]

  • 17. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia.
    Chen J, Futami K, Petillo D, Peng J, Wang P, Knol J, Li Y, Khoo SK, Huang D, Qian CN, Zhao P, Dykema K, Zhang R, Cao B, Yang XJ, Furge K, Williams BO, Teh BT.
    PLoS One; 2008 Jul 01; 3(10):e3581. PubMed ID: 18974783
    [Abstract] [Full Text] [Related]

  • 18. Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
    Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.
    Hum Mutat; 2011 Aug 01; 32(8):921-9. PubMed ID: 21538689
    [Abstract] [Full Text] [Related]

  • 19. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
    Houweling AC, Gijezen LM, Jonker MA, van Doorn MB, Oldenburg RA, van Spaendonck-Zwarts KY, Leter EM, van Os TA, van Grieken NC, Jaspars EH, de Jong MM, Bongers EM, Johannesma PC, Postmus PE, van Moorselaar RJ, van Waesberghe JH, Starink TM, van Steensel MA, Gille JJ, Menko FH.
    Br J Cancer; 2011 Dec 06; 105(12):1912-9. PubMed ID: 22146830
    [Abstract] [Full Text] [Related]

  • 20. Familial spontaneous pneumothorax and lung cysts due to a Folliculin exon 10 mutation.
    Sundaram S, Tasker AD, Morrell NW.
    Eur Respir J; 2009 Jun 06; 33(6):1510-2. PubMed ID: 19483054
    [Abstract] [Full Text] [Related]

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