685 related articles for article (PubMed ID: 23249834)
1. 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. PubMed ID: 23249834
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 25347032
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22588548
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 20502185
[TBL] [Abstract][Full Text] [Related]
5. A novel CYLD germline mutation in Brooke-Spiegler syndrome.
Guardoli D; Argenziano G; Ponti G; Nasti S; Zalaudek I; Moscarella E; Lallas A; Piana S; Specchio F; Martinuzzi C; Raucci M; Pellacani G; Longo C
J Eur Acad Dermatol Venereol; 2015 Mar; 29(3):457-62. PubMed ID: 25131725
[TBL] [Abstract][Full Text] [Related]
6. Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.
Kazakov DV
Head Neck Pathol; 2016 Jun; 10(2):125-30. PubMed ID: 26971504
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21389835
[TBL] [Abstract][Full Text] [Related]
8. Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.
Tantcheva-Poór I; Vanecek T; Lurati MC; Rychly B; Kempf W; Michal M; Kazakov DV
Dermatology; 2016; 232(1):30-7. PubMed ID: 26329847
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18234730
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 25782638
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 22077640
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 17083363
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 20132422
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15854031
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 14632188
[TBL] [Abstract][Full Text] [Related]
16. Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.
Parren LJMT; Giehl K; van Geel M; Frank J
Arch Dermatol Res; 2018 Sep; 310(7):599-606. PubMed ID: 29974194
[TBL] [Abstract][Full Text] [Related]
17. Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.
Ponti G; Ruini C; Girolomoni G; Pellacani G; Farnetani F; Pastorino L; Ghiorzo P; Witkowski AM; Bianchi-Scarrà G; Tomasi A; Loschi P; Nasti S
Future Oncol; 2014 Feb; 10(3):345-50. PubMed ID: 24559443
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 19668078
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16922728
[TBL] [Abstract][Full Text] [Related]
20. 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; 17():36. PubMed ID: 26861065
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]