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Items: 1 to 20 of 162

1.

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. doi: 10.1111/j.1600-0560.2010.01511.x. Epub 2010 Feb 4.

PMID:
20132422
2.

Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.

Kazakov DV, Zelger B, Rütten A, Vazmitel M, Spagnolo DV, Kacerovska D, Vanecek T, Grossmann P, Sima R, Grayson W, Calonje E, Koren J, Mukensnabl P, Danis D, Michal M.

Am J Surg Pathol. 2009 May;33(5):705-19. doi: 10.1097/PAS.0b013e3181966762.

PMID:
19194280
3.

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. doi: 10.1097/DAD.0b013e31824e7658.

PMID:
23249834
4.

A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology.

Kazakov DV, Thoma-Uszynski S, Vanecek T, Kacerovska D, Grossmann P, Michal M.

Am J Dermatopathol. 2009 Oct;31(7):664-73. doi: 10.1097/DAD.0b013e3181a05dad.

PMID:
19668078
5.

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.

PMID:
17083363
6.

New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome.

Scholz IM, Nümann A, Froster UG, Helmbold P, Enk AH, Näher H.

J Dtsch Dermatol Ges. 2010 Feb;8(2):99-101. doi: 10.1111/j.1610-0387.2009.07156_supp.x. English, German.

PMID:
20151946
7.

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.

Am J Dermatopathol. 2011 May;33(3):251-65. doi: 10.1097/DAD.0b013e3181f7d373. Erratum in: Am J Dermatopathol. 2011 Dec;33(8):874. Fernandez-Figueraz, Maria Tereza [corrected to Fernandez-Figueras, Maria Tereza].

PMID:
21389835
8.

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;28(5):539-41.

PMID:
12950348
9.

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.

Diagn Mol Pathol. 2010 Jun;19(2):83-91. doi: 10.1097/PDM.0b013e3181ba2d96.

PMID:
20502185
10.

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.

PMID:
16922728
11.

A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene.

Heinritz W, Grunewald S, Strenge S, Schütz A, Froster UG, Glander HJ, Paasch U, Simon JC.

Br J Dermatol. 2006 May;154(5):992-4. No abstract available.

PMID:
16634909
12.

Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma, spiradenoma, and syringoma.

Uede K, Yamamoto Y, Furukawa F.

J Dermatol. 2004 Jan;31(1):32-8.

PMID:
14739501
13.

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.

14.

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.

15.

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.

J Invest Dermatol. 2005 May;124(5):919-20.

16.

[Brooke-Spiegler syndrome].

Garat H, Loche F, Gorguet B, Rumeau H, Lamant L, Bazex J.

Ann Dermatol Venereol. 1999 Jun-Jul;126(6-7):513-7. French.

PMID:
10495861
17.

Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome.

Kazakov DV, Grossmann P, Spagnolo DV, Vanecek T, Vazmitel M, Kacerovska D, Zelger B, Calonje E, Michal M.

Am J Dermatopathol. 2010 May;32(3):215-21. doi: 10.1097/DAD.0b013e3181b9678c.

PMID:
20075707
18.

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarrà G, Seidenari S.

J Cutan Pathol. 2012 Mar;39(3):366-71. doi: 10.1111/j.1600-0560.2011.01813.x. Epub 2011 Nov 12.

PMID:
22077640
19.

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.

J Med Genet. 2008 May;45(5):298-302. doi: 10.1136/jmg.2007.056127. Epub 2008 Jan 30.

PMID:
18234730
20.

[Brooke-Spiegler syndrome: an heterogeneous entity].

Mataix J, Bañuls J, Botella R, Laredo C, Lucas A.

Actas Dermosifiliogr. 2006 Dec;97(10):669-72. Review. Spanish.

PMID:
17173833
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