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.

Petr Grossmann; Tomas Vanecek; Petr Steiner; Denisa Kacerovska; Dominic V Spagnolo; Bernard Cribier; Christian Rose; Marina Vazmitel; J Andrew Carlson; Michael Emberger; Petr Martinek; Robert L Pearce; John Pearn; Michal Michal; Dmitry V Kazakov

doi:10.1097/DAD.0b013e31824e7658

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.

Petr Grossmann, Tomas Vanecek, Petr Steiner, Denisa Kacerovska, Dominic V Spagnolo, Bernard Cribier, Christian Rose, Marina Vazmitel, J Andrew Carlson, Michael Emberger, Petr Martinek, Robert L Pearce, John Pearn, Michal Michal, Dmitry V Kazakov

Department of Dermatology and Allergology

Research output: Contribution to journal › Original Article › peer-review

33 Citations (Web of Science)

Original language	English
Pages (from-to)	34-44
Journal	AMERICAN JOURNAL OF DERMATOPATHOLOGY
Volume	35
Issue number	1
DOIs	https://doi.org/10.1097/DAD.0b013e31824e7658
Publication status	Published - 2013

Keywords

BASAL-CELL CARCINOMA
CYLD GENE
CHINESE FAMILY
CYLINDROMATOSIS
TUMORS
SKIN
DIFFERENTIATION
HETEROZYGOSITY
IDENTIFICATION
ASSOCIATION

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10.1097/DAD.0b013e31824e7658

Cite this

Grossmann, P., Vanecek, T., Steiner, P., Kacerovska, D., Spagnolo, D. V., Cribier, B., Rose, C., Vazmitel, M., Carlson, J. A., Emberger, M., Martinek, P., Pearce, R. L., Pearn, J., Michal, M., & Kazakov, D. V. (2013). 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. AMERICAN JOURNAL OF DERMATOPATHOLOGY , 35(1), 34-44. https://doi.org/10.1097/DAD.0b013e31824e7658

Grossmann, Petr ; Vanecek, Tomas ; Steiner, Petr et al. / 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. In: AMERICAN JOURNAL OF DERMATOPATHOLOGY 2013 ; Vol. 35, No. 1. pp. 34-44.

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title = "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.",

keywords = "BASAL-CELL CARCINOMA, CYLD GENE, CHINESE FAMILY, CYLINDROMATOSIS, TUMORS, SKIN, DIFFERENTIATION, HETEROZYGOSITY, IDENTIFICATION, ASSOCIATION",

author = "Petr Grossmann and Tomas Vanecek and Petr Steiner and Denisa Kacerovska and Spagnolo, {Dominic V} and Bernard Cribier and Christian Rose and Marina Vazmitel and Carlson, {J Andrew} and Michael Emberger and Petr Martinek and Pearce, {Robert L} and John Pearn and Michal Michal and Kazakov, {Dmitry V}",

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doi = "10.1097/DAD.0b013e31824e7658",

language = "English",

volume = "35",

pages = "34--44",

journal = "AMERICAN JOURNAL OF DERMATOPATHOLOGY ",

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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 2013, '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.', AMERICAN JOURNAL OF DERMATOPATHOLOGY , vol. 35, no. 1, pp. 34-44. https://doi.org/10.1097/DAD.0b013e31824e7658

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, Petr; Vanecek, Tomas; Steiner, Petr et al.
In: AMERICAN JOURNAL OF DERMATOPATHOLOGY , Vol. 35, No. 1, 2013, p. 34-44.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - 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.

AU - Grossmann, Petr

AU - Vanecek, Tomas

AU - Steiner, Petr

AU - Kacerovska, Denisa

AU - Spagnolo, Dominic V

AU - Cribier, Bernard

AU - Rose, Christian

AU - Vazmitel, Marina

AU - Carlson, J Andrew

AU - Emberger, Michael

AU - Martinek, Petr

AU - Pearce, Robert L

AU - Pearn, John

AU - Michal, Michal

AU - Kazakov, Dmitry V

PY - 2013

Y1 - 2013

KW - BASAL-CELL CARCINOMA

KW - CYLD GENE

KW - CHINESE FAMILY

KW - CYLINDROMATOSIS

KW - TUMORS

KW - SKIN

KW - DIFFERENTIATION

KW - HETEROZYGOSITY

KW - IDENTIFICATION

KW - ASSOCIATION

U2 - 10.1097/DAD.0b013e31824e7658

DO - 10.1097/DAD.0b013e31824e7658

M3 - Original Article

C2 - 23249834

SN - 0193-1091

VL - 35

SP - 34

EP - 44

JO - AMERICAN JOURNAL OF DERMATOPATHOLOGY

JF - AMERICAN JOURNAL OF DERMATOPATHOLOGY

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Grossmann P, Vanecek T, Steiner P, Kacerovska D, Spagnolo DV, Cribier B et al. 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. AMERICAN JOURNAL OF DERMATOPATHOLOGY . 2013;35(1):34-44. doi: 10.1097/DAD.0b013e31824e7658