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Journal Abstract Search

206 related items for PubMed ID: 21389835

  • 21. Phenotype-genotype correlations for clinical variants caused by CYLD mutations.
    Nagy N, Farkas K, Kemény L, Széll M.
    Eur J Med Genet; 2015 May; 58(5):271-8. PubMed ID: 25782638
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  • 23. Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
    Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J.
    J Invest Dermatol; 2002 Aug; 119(2):527-31. PubMed ID: 12190880
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  • 27. Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.
    Huang Y, Cai C, Ren L, Cui C, Zhang X, Liu W.
    J Dermatol; 2019 May; 46(5):413-417. PubMed ID: 30809827
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  • 29. A novel germline mutation in the CYLD gene in a Slovak patient with Brooke-Spiegler syndrome.
    Kacerovská D, Szép Z, Kolláriková L, Vaneček T, Michal M, Daniš D, Kazakov D.
    Cesk Patol; 2013 Apr; 49(2):89-92. PubMed ID: 23641715
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  • 30. 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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  • 31. A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
    Zhu R, Xu J, Shen J, Li W, Tan F, Li C, Wei Z, Liu Y, Bai Y.
    Mol Genet Genomic Med; 2020 Oct 09; 8(10):e1441. PubMed ID: 32783365
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  • 34. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.
    Blake PW, Toro JR.
    Hum Mutat; 2009 Jul 09; 30(7):1025-36. PubMed ID: 19462465
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