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multiple familial trichoepitheliomas
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publication
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma
2011 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss
2017 |
Lékařská fakulta v Plzni
publication
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma
2014 |
Lékařská fakulta v Plzni
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
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
2009 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
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
2016 |
Lékařská fakulta v Plzni
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 case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib
2018 |
Lékařská fakulta v Plzni
publication
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
2009 |
Ústřední knihovna
publication
Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation
2016 |
Lékařská fakulta v Plzni
publication
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
2009 |
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
Brooke-Spiegler Syndrome and Phenotypic Variants: An Update
2016 |
Lékařská fakulta v Plzni