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Results: 1 to 20 of 152

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.

J Invest Dermatol. 2002 Aug;119(2):527-31.

PMID:
12190880
[PubMed - indexed for MEDLINE]
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.

Exp Dermatol. 2006 Dec;15(12):966-70.

PMID:
17083363
[PubMed - indexed for MEDLINE]
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.

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]
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.

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
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.

Clin Genet. 2006 Sep;70(3):246-9.

PMID:
16922728
[PubMed - indexed for MEDLINE]
7.

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]
8.

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]
9.

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]
10.

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
11.

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]
12.

Carcinosarcoma arising in a patient with multiple cylindromas.

De Francesco V, Frattasio A, Pillon B, Stinco G, Scott CA, Trotter D, Patrone P.

Am J Dermatopathol. 2005 Feb;27(1):21-6.

PMID:
15677972
[PubMed - indexed for MEDLINE]
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.

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

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.

van den Ouweland AM, Elfferich P, Lamping R, van de Graaf R, van Veghel-Plandsoen MM, Franken SM, Houweling AC.

Fam Cancer. 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y.

PMID:
20972631
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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]
17.

[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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Rajan N, Langtry JA, Ashworth A, Roberts C, Chapman P, Burn J, Trainer AH.

Arch Dermatol. 2009 Nov;145(11):1277-84. doi: 10.1001/archdermatol.2009.262.

PMID:
19917957
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.

Salhi A, Bornholdt D, Oeffner F, Malik S, Heid E, Happle R, Grzeschik KH.

Cancer Res. 2004 Aug 1;64(15):5113-7.

PMID:
15289313
[PubMed - indexed for MEDLINE]
Free Article
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