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Journal Abstract Search

256 related items for PubMed ID: 16922728

  • 1. 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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  • 4. 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
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  • 5. 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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  • 6. 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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  • 8. 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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  • 10. Brooke-Spiegler syndrome: report of a case of multiple cylindromas and trichoepitheliomas.
    Doherty SD, Barrett TL, Joseph AK.
    Dermatol Online J; 2008 Jul 15; 14(7):8. PubMed ID: 18718192
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  • 13. 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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  • 18. 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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