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Brooke–Spiegler syndrome
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RNDr. Mgr. Tomáš Vaněček Ph.D.
Akademický pracovník na Lékařská fakulta v Plzni
111 publikací
Publikace
publication
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
2013 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids
2013 |
Lékařská fakulta v Plzni
publication
A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke-Spiegler Syndrome
2013 |
Lékařská fakulta v Plzni
publication
A novel germline mutation in the CYLD gene in a slovak patient with Brooke-Spiegler syndrome
2013 |
Publikace bez příslušnosti k fakultě
publication
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients
2011 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome
2010 |
Ústřední knihovna
publication
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
2010 |
Ústřední knihovna
publication
Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations
2010 |
Ústřední knihovna
publication
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
2009 |
Ústřední knihovna
publication
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
2009 |
Ústřední knihovna
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