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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. Farkas K, et al. Among authors: vanecek t. BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9. BMC Genet. 2016. PMID: 26861065 Free PMC article.
Mucinous carcinoma of the skin, primary, and secondary: a clinicopathologic study of 63 cases with emphasis on the morphologic spectrum of primary cutaneous forms: homologies with mucinous lesions in the breast.
Kazakov DV, Suster S, LeBoit PE, Calonje E, Bisceglia M, Kutzner H, Rütten A, Mentzel T, Schaller J, Zelger B, Baltaci M, Leivo I, Rose C, Fukunaga M, Simpson RH, Yang Y, Carlson JA, Cavazza A, Hes O, Mukensnabl P, Vanecek T, Fidalgo A, Pizinger K, Michal M. Kazakov DV, et al. Among authors: vanecek t. Am J Surg Pathol. 2005 Jun;29(6):764-82. doi: 10.1097/01.pas.0000159104.02985.6b. Am J Surg Pathol. 2005. PMID: 15897743
Unusual hyperplasia of anogenital mammary-like glands.
Kazakov DV, Hügel H, Vanecek T, Michal M. Kazakov DV, et al. Among authors: vanecek t. Am J Dermatopathol. 2006 Apr;28(2):134-7. doi: 10.1097/01.dad.0000183890.09480.d9. Am J Dermatopathol. 2006. PMID: 16625075
Primary cutaneous lymphoproliferative disorders with dual lineage rearrangement.
Kazakov DV, Kutzner H, Palmedo G, Boudova L, Michaelis S, Michal M, Vanecek T, Magro CM, Mukensnabl P, Dummer R, Burg G, Kempf W. Kazakov DV, et al. Among authors: vanecek t. Am J Dermatopathol. 2006 Oct;28(5):399-409. doi: 10.1097/01.dad.0000211514.98230.ba. Am J Dermatopathol. 2006. PMID: 17012914
169 results