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Journal Abstract Search

345 related items for PubMed ID: 21162720

  • 1. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.
    Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA.
    BMC Med Genomics; 2010 Dec 16; 3():59. PubMed ID: 21162720
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  • 2. 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 16; 106(3):315-23. PubMed ID: 25594584
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  • 3. 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 16; 23(3):204-10. PubMed ID: 26608100
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  • 4. 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 16; 63(4):103820. PubMed ID: 31778855
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  • 5. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
    Benhammou JN, Vocke CD, Santani A, Schmidt LS, Baba M, Seyama K, Wu X, Korolevich S, Nathanson KL, Stolle CA, Linehan WM.
    Genes Chromosomes Cancer; 2011 Jun 16; 50(6):466-77. PubMed ID: 21412933
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  • 6. Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
    Kayhan G, Yılmaz Demirci N, Turktas H, Ergun MA.
    Genet Test Mol Biomarkers; 2017 Oct 16; 21(10):632-634. PubMed ID: 28805452
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  • 7. Sporadic hybrid oncocytic/chromophobe tumor of the kidney: a clinicopathologic, histomorphologic, immunohistochemical, ultrastructural, and molecular cytogenetic study of 14 cases.
    Petersson F, Gatalica Z, Grossmann P, Perez Montiel MD, Alvarado Cabrero I, Bulimbasic S, Swatek A, Straka L, Tichy T, Hora M, Kuroda N, Legendre B, Michal M, Hes O.
    Virchows Arch; 2010 Apr 16; 456(4):355-65. PubMed ID: 20300772
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  • 8. 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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  • 10. Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.
    Kuroda N, Furuya M, Nagashima Y, Gotohda H, Moritani S, Kawakami F, Imamura Y, Bando Y, Takahashi M, Kanayama HO, Ota S, Michal M, Hes O, Nakatani Y.
    Ann Diagn Pathol; 2014 Jun 15; 18(3):171-6. PubMed ID: 24767893
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  • 11. 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 15; 79(4):345-54. PubMed ID: 20618353
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  • 13. Genome-Wide Uniparental Disomy and Copy Number Variations in Renal Cell Carcinomas Associated with Birt-Hogg-Dubé Syndrome.
    Iribe Y, Yao M, Tanaka R, Kuroda N, Nagashima Y, Nakatani Y, Furuya M.
    Am J Pathol; 2016 Feb 15; 186(2):337-46. PubMed ID: 26776076
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  • 14. 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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  • 15. 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 27; 98(2):125-132. PubMed ID: 31266032
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  • 17. 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 27; 97(3):343-351. PubMed ID: 27991910
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  • 18. Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.
    Benusiglio PR, Giraud S, Deveaux S, Méjean A, Correas JM, Joly D, Timsit MO, Ferlicot S, Verkarre V, Abadie C, Chauveau D, Leroux D, Avril MF, Cordier JF, Richard S, French National Cancer Institute Inherited Predisposition to Kidney Cancer Network.
    Orphanet J Rare Dis; 2014 Oct 29; 9():163. PubMed ID: 25519458
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  • 19. A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.
    Miao H, Zhou Y, Ge S, Gu Y, Qu L, Zhou W, He H.
    Mol Genet Genomic Med; 2024 Jul 29; 12(7):e2488. PubMed ID: 38963008
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  • 20. 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 29; 52():74-82. PubMed ID: 26980015
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