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Items: 1 to 20 of 105

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.

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
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
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.

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.

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
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
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.

J Cancer Res Clin Oncol. 2016 Apr;142(4):845-8. doi: 10.1007/s00432-015-2079-y. Epub 2015 Dec 11.

PMID:
26660106
9.

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
10.

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
11.

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

Nagy N, Farkas K, Kemény L, Széll M.

Eur J Med Genet. 2015 May;58(5):271-8. doi: 10.1016/j.ejmg.2015.02.010. Epub 2015 Mar 14. Review.

PMID:
25782638
12.

Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome.

Aguilera CA, De la Varga Martínez R, García LO, Jiménez-Gallo D, Planelles CA, Barrios ML.

Indian J Dermatol. 2016 Sep-Oct;61(5):580. doi: 10.4103/0019-5154.190127.

13.

<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.

Dubois A, Wilson V, Bourn D, Rajan N.

PLoS Curr. 2015 Feb 19;7. pii: ecurrents.eogt.45c4e63dd43d62e12228cc5264d6a0db. doi: 10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db.

14.

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.

15.

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.

16.

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
17.

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
18.

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.

19.

A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.

Wu JW, Xiao SX, Huo J, An JG, Ren JW.

Arch Dermatol Res. 2014 Nov;306(9):857-60. doi: 10.1007/s00403-014-1499-x. Epub 2014 Sep 19.

PMID:
25234269
20.

Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.

Vanecek T, Halbhuber Z, Kacerovska D, Martinek P, Sedivcova M, Carr RA, Slouka D, Michal M, Kazakov DV.

Am J Dermatopathol. 2014 Nov;36(11):868-74. doi: 10.1097/DAD.0000000000000068.

PMID:
25347032

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