Similar articles for PMID: 12190880

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1

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. Poblete Gutiérrez P, et al. J Invest Dermatol. 2002 Aug;119(2):527-31. doi: 10.1046/j.1523-1747.2002.01839.x. J Invest Dermatol. 2002. PMID: 12190880 Free article.

2

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. Zhang G, et al. Exp Dermatol. 2006 Dec;15(12):966-70. doi: 10.1111/j.1600-0625.2006.00501.x. Exp Dermatol. 2006. PMID: 17083363

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. Saggar S, et al. J Med Genet. 2008 May;45(5):298-302. doi: 10.1136/jmg.2007.056127. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234730

4

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. Hu G, et al. J Invest Dermatol. 2003 Oct;121(4):732-4. doi: 10.1046/j.1523-1747.2003.12514.x. J Invest Dermatol. 2003. PMID: 14632188 Free article.

5

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. Bowen S, et al. J Invest Dermatol. 2005 May;124(5):919-20. doi: 10.1111/j.0022-202X.2005.23688.x. J Invest Dermatol. 2005. PMID: 15854031 Free article.

6

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.

Young AL, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi JT. Young AL, et al. Clin Genet. 2006 Sep;70(3):246-9. doi: 10.1111/j.1399-0004.2006.00667.x. Clin Genet. 2006. PMID: 16922728

7

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. Am J Dermatopathol. 2013 Feb;35(1):34-44. doi: 10.1097/DAD.0b013e31824e7658. Am J Dermatopathol. 2013. PMID: 23249834

8

A case of Brooke-Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin's lymphoma.

Hunstig F, Schulz S, Nieten I, Froster U, Boltze C, Schliemann S, Hochhaus A, La Rosée P. Hunstig F, et al. J Cancer Res Clin Oncol. 2016 Apr;142(4):845-8. doi: 10.1007/s00432-015-2079-y. Epub 2015 Dec 11. J Cancer Res Clin Oncol. 2016. PMID: 26660106

9

Phenotype-genotype correlations for clinical variants caused by CYLD mutations.

Nagy N, Farkas K, Kemény L, Széll M. Nagy N, et al. Eur J Med Genet. 2015 May;58(5):271-8. doi: 10.1016/j.ejmg.2015.02.010. Epub 2015 Mar 14. Eur J Med Genet. 2015. PMID: 25782638 Review.

10

Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.

Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangüeza M, Emberger M, Belousova I, Fernandez-Figueras MT, Kempf W, Meyer DR, Rütten A, Baltaci M, Michal M. Kazakov DV, et al. Am J Dermatopathol. 2011 May;33(3):251-65. doi: 10.1097/DAD.0b013e3181f7d373. Am J Dermatopathol. 2011. PMID: 21389835

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