메뉴 건너뛰기




Volumn 29, Issue 1, 2013, Pages

A new cylindromatosis (CYLD) gene mutation in a case of brooke-spiegler syndrome masquerading as basal cell carcinoma of the eyelids

Author keywords

[No Author keywords available]

Indexed keywords

ADENOID CYSTIC CARCINOMA; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASAL CELL CARCINOMA; BLOOD; BROOKE SYNDROME; CASE REPORT; CHEEK; EYELID BIOPSY; EYELID CARCINOMA; FACE INJURY; FEMALE; GENE MUTATION; HIDRADENOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LOWER EYELID; MEDICAL HISTORY; PAPULE; PRIORITY JOURNAL; SCALP; TRICHOEPITHELIOMA; UPPER EYELID;

EID: 84872933542     PISSN: 07409303     EISSN: 15372677     Source Type: Journal    
DOI: 10.1097/IOP.0b013e3182565c41     Document Type: Article
Times cited : (6)

References (6)
  • 1
    • 67649672157 scopus 로고    scopus 로고
    • Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: Novel insights into the role of deubiquitination in cell signaling
    • Blake PW, Toro Jr. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: Novel insights into the role of deubiquitination in cell signaling. Hum Mutat 2009;30:1025-36
    • (2009) Hum Mutat , vol.30 , pp. 1025-1036
    • Blake, P.W.1    Toro, J.R.2
  • 2
    • 70349739595 scopus 로고    scopus 로고
    • 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, et al. 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. Am J Dermatopathol 2009;31:664-73
    • (2009) Am J Dermatopathol , vol.31 , pp. 664-673
    • Kazakov, D.V.1    Thoma-Uszynski, S.2    Vanecek, T.3
  • 3
    • 65449156802 scopus 로고    scopus 로고
    • Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome
    • Kazakov DV, Zelger B, Rütten A, et al. Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol 2009;33:705-19
    • (2009) Am J Surg Pathol , vol.33 , pp. 705-719
    • Kazakov, D.V.1    Zelger, B.2    Rütten, A.3
  • 4
    • 74349108784 scopus 로고    scopus 로고
    • Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: A clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes
    • Kazakov DV, Vanecek T, Nemcova J, et al. Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: A clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes. Am J Dermatopathol 2009;31:819-27
    • (2009) Am J Dermatopathol , vol.31 , pp. 819-827
    • Kazakov, D.V.1    Vanecek, T.2    Nemcova, J.3
  • 5
    • 50849118849 scopus 로고    scopus 로고
    • Basal cell carcinomas arising within multiple trichoepitheliomas
    • Pincus LB, McCalmont TH, Neuhaus IM, et al. Basal cell carcinomas arising within multiple trichoepitheliomas. J Cutan Pathol 2008;35 SUPPL1:59-64
    • (2008) J Cutan Pathol , vol.35 , Issue.SUPPL.1 , pp. 59-64
    • Pincus, L.B.1    McCalmont, T.H.2    Neuhaus, I.M.3
  • 6
    • 77953166790 scopus 로고    scopus 로고
    • 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, et al. 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. Diagn Mol Pathol 2010;19:83-91
    • (2010) Diagn Mol Pathol , vol.19 , pp. 83-91
    • Sima, R.1    Vanecek, T.2    Kacerovska, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.