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Results: 1 to 20 of 194

1.

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
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
15854031
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
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.

J Invest Dermatol. 2003 Oct;121(4):732-4.

PMID:
14632188
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
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.

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

PMID:
23249834
[PubMed - indexed for MEDLINE]
8.

Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity.

Almeida S, Maillard C, Itin P, Hohl D, Huber M.

J Invest Dermatol. 2008 Mar;128(3):587-93. Epub 2007 Sep 13.

PMID:
17851586
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
12190880
[PubMed - indexed for MEDLINE]
Free Article
10.

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;30(7):1025-36. doi: 10.1002/humu.21024. Review.

PMID:
19462465
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.

Oiso N, Mizuno N, Fukai K, Nakagawa K, Ishii M.

Br J Dermatol. 2004 Nov;151(5):1084-6.

PMID:
15541090
[PubMed - indexed for MEDLINE]
13.

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

Amaro C, Freitas I, Lamarão P, Afonso A, Skrzypczak M, Heinritz W.

J Eur Acad Dermatol Venereol. 2010 Jul;24(7):844-6. doi: 10.1111/j.1468-3083.2009.03497.x. Epub 2009 Nov 19.

PMID:
19929939
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.

Zheng G, Hu L, Huang W, Chen K, Zhang X, Yang S, Sun J, Jiang Y, Luo G, Kong X.

Hum Mutat. 2004 Apr;23(4):400.

PMID:
15024746
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
18718192
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

A clinicopathologic and molecular biologic study of patients presenting with few adnexal tumors (two to four) from the morphological spectrum of Brooke-Spiegler syndrome.

Kacerovska D, Vanecek T, Spagnolo DV, Bisceglia M, Zelger B, Michal M, Kazakov DV.

Am J Dermatopathol. 2013 Feb;35(1):19-24. doi: 10.1097/DAD.0b013e318255dd37.

PMID:
22588548
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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