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296 related items for PubMed ID: 17083363

  • 1. Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
    Zhang G, Huang Y, Yan K, Li W, Fan X, Liang Y, Sun L, Li H, Zhang S, Gao M, Du W, Yang S, Liu J, Zhang X.
    Exp Dermatol; 2006 Dec; 15(12):966-70. PubMed ID: 17083363
    [Abstract] [Full Text] [Related]

  • 2. Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.
    Oiso N, Mizuno N, Fukai K, Nakagawa K, Ishii M.
    Br J Dermatol; 2004 Nov; 151(5):1084-6. PubMed ID: 15541090
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  • 3. CYLD mutations in familial skin appendage tumours.
    Saggar S, Chernoff KA, Lodha S, Horev L, Kohl S, Honjo RS, Brandt HR, Hartmann K, Celebi JT.
    J Med Genet; 2008 May; 45(5):298-302. PubMed ID: 18234730
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  • 4. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
    Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT.
    Clin Genet; 2006 Sep; 70(3):246-9. PubMed ID: 16922728
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  • 5. Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.
    Grossmann P, Vanecek T, Steiner P, Kacerovska D, Spagnolo DV, Cribier B, Rose C, Vazmitel M, Carlson JA, Emberger M, Martinek P, Pearce RL, Pearn J, Michal M, Kazakov DV.
    Am J Dermatopathol; 2013 Feb; 35(1):34-44. PubMed ID: 23249834
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  • 6. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
    Bowen S, Gill M, Lee DA, Fisher G, Geronemus RG, Vazquez ME, Celebi JT.
    J Invest Dermatol; 2005 May; 124(5):919-20. PubMed ID: 15854031
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  • 7. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.
    Hu G, Onder M, Gill M, Aksakal B, Oztas M, Gürer MA, Celebi JT.
    J Invest Dermatol; 2003 Oct; 121(4):732-4. PubMed ID: 14632188
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  • 10. Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors.
    Kazakov DV, Schaller J, Vanecek T, Kacerovska D, Michal M.
    J Cutan Pathol; 2010 Aug; 37(8):886-90. PubMed ID: 20132422
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  • 11. Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families.
    Rajan N, Trainer AH, Burn J, Langtry JA.
    Dermatol Surg; 2009 May; 35(5):845-52. PubMed ID: 19397670
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  • 12. A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.
    Kazakov DV, Thoma-Uszynski S, Vanecek T, Kacerovska D, Grossmann P, Michal M.
    Am J Dermatopathol; 2009 Oct; 31(7):664-73. PubMed ID: 19668078
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  • 13. [Brooke-Spiegler syndrome].
    Garat H, Loche F, Gorguet B, Rumeau H, Lamant L, Bazex J.
    Ann Dermatol Venereol; 1999 Oct; 126(6-7):513-7. PubMed ID: 10495861
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  • 14. Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.
    Kazakov DV, Zelger B, Rütten A, Vazmitel M, Spagnolo DV, Kacerovska D, Vanecek T, Grossmann P, Sima R, Grayson W, Calonje E, Koren J, Mukensnabl P, Danis D, Michal M.
    Am J Surg Pathol; 2009 May; 33(5):705-19. PubMed ID: 19194280
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  • 15. The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
    Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N.
    BMC Genet; 2016 Feb 09; 17():36. PubMed ID: 26861065
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  • 16. Brooke-Spiegler syndrome.
    Szepietowski JC, Wasik F, Szybejko-Machaj G, Bieniek A, Schwartz RA.
    J Eur Acad Dermatol Venereol; 2001 Jul 09; 15(4):346-9. PubMed ID: 11730050
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  • 17. Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome.
    Scheinfeld N, Hu G, Gill M, Austin C, Celebi JT.
    Clin Exp Dermatol; 2003 Sep 09; 28(5):539-41. PubMed ID: 12950348
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