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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. Grossmann P, et al. Among authors: pearce rl. Am J Dermatopathol. 2013 Feb;35(1):34-44. doi: 10.1097/DAD.0b013e31824e7658. Am J Dermatopathol. 2013. PMID: 23249834
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.
Sima R, Vanecek T, Kacerovska D, Trubac P, Cribier B, Rutten A, Vazmitel M, Spagnolo DV, Litvik R, Vantuchova Y, Weyers W, Pearce RL, Pearn J, Michal M, Kazakov DV. Sima R, et al. Among authors: pearce rl. Diagn Mol Pathol. 2010 Jun;19(2):83-91. doi: 10.1097/PDM.0b013e3181ba2d96. Diagn Mol Pathol. 2010. PMID: 20502185
A diagnostic autoantibody signature for primary cutaneous melanoma.
Zaenker P, Lo J, Pearce R, Cantwell P, Cowell L, Lee M, Quirk C, Law H, Gray E, Ziman M. Zaenker P, et al. Oncotarget. 2018 Jul 17;9(55):30539-30551. doi: 10.18632/oncotarget.25669. eCollection 2018 Jul 17. Oncotarget. 2018. PMID: 30093967 Free PMC article.
28 results