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Items: 1 to 20 of 112

1.

[Multiple familial trichoepithelioma: a new CYLD gene mutation].

Duparc A, Lasek-Duriez A, Wiart T, Duban-Bedu B, Gosset P, Modiano P.

Ann Dermatol Venereol. 2013 Apr;140(4):274-7. doi: 10.1016/j.annder.2013.01.441. Epub 2013 Mar 7. French.

PMID:
23567228
2.

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.

Huang TM, Chao SC, Lee JY.

Clin Exp Dermatol. 2009 Jan;34(1):77-80. doi: 10.1111/j.1365-2230.2008.02870.x. Review.

PMID:
19076795
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.

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N.

BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9.

5.

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
6.

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
7.

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.

8.

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
9.

A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma.

Ying ZX, Ma HQ, Liu Y, Xiao SX, Wang YX, Wang GX.

J Eur Acad Dermatol Venereol. 2012 Nov;26(11):1420-3. doi: 10.1111/j.1468-3083.2011.04309.x. Epub 2011 Nov 4.

PMID:
22049921
10.

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
11.

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
12.

A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke-Spiegler syndrome.

Nagy N, Farkas K, Kinyo A, Nemeth IB, Kis E, Varga J, Bata-Csorgo Z, Kemeny L, Szell M.

Exp Dermatol. 2012 Dec;21(12):967-9. doi: 10.1111/exd.12040.

PMID:
23171463
13.

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Wang FX, Yang LJ, Li M, Zhang SL, Zhu XH.

Arch Dermatol Res. 2010 Jan;302(1):67-70. doi: 10.1007/s00403-009-1003-1. Epub 2009 Nov 13.

PMID:
19911186
14.

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.

15.

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
16.

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
17.

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.

Kazakov DV.

Head Neck Pathol. 2016 Jun;10(2):125-30. doi: 10.1007/s12105-016-0705-x. Epub 2016 Mar 14. Review.

18.

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
19.

Trichoepithelioma.

Johnson H, Robles M, Kamino H, Walters RF, Lee A, Sanchez M.

Dermatol Online J. 2008 Oct 15;14(10):5.

PMID:
19061604
20.

Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas.

Li ZL, Guan HH, Xiao XM, Hui Y, Jia WX, Yu RX, Chen H, Li CR.

Genet Mol Res. 2014 Nov 14;13(4):9650-5. doi: 10.4238/2014.November.14.10.

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