Found: 33
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O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 6, p. e68, doi. 10.1093/bjd/ljae105.002
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- Publication type:
- Article
O09 Microsatellite-unstable sporadic sebaceous and duodenal tumours are associated with loss of mismatch protein expression.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 6, p. e72, doi. 10.1093/bjd/ljae105.009
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- Publication type:
- Article
P24 Folliculin silencing in human hair follicles ex vivo upregulates intrafollicular mechanistic target of rapamycin complex 1 activity: a new model for studying Birt–Hogg–Dubé syndrome.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 6, p. e90, doi. 10.1093/bjd/ljae105.046
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- Publication type:
- Article
Squamous cell carcinoma and MYH9-associated elastin aggregation (MALTA) syndrome.
- Published in:
- Clinical & Experimental Dermatology, 2024, v. 49, n. 1, p. 105, doi. 10.1093/ced/llad263
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- Publication type:
- Article
Leveraging large language models in dermatology.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 3, p. 253, doi. 10.1093/bjd/ljad230
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- Publication type:
- Article
O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 1, p. e12, doi. 10.1093/bjd/ljad174.019
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- Publication type:
- Article
P14 Whole-genome sequencing of malignant cylindroma in CYLD cutaneous syndrome reveals a clinically targetable somatic driver mutation.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 1, p. e19, doi. 10.1093/bjd/ljad174.035
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- Publication type:
- Article
P30 Microsatellite instability in cutaneous squamous cell carcinoma.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 1, p. e26, doi. 10.1093/bjd/ljad174.051
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- Publication type:
- Article
Epidemiology of porocarcinoma in England 2013–2018: a population-based registry study.
- Published in:
- Clinical & Experimental Dermatology, 2023, v. 48, n. 7, p. 770, doi. 10.1093/ced/llad122
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- Publication type:
- Article
'Get Data Out' Skin: national cancer registry incidence and survival rates for all registered skin tumour groups for 2013–2019 in England.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 6, p. 777, doi. 10.1093/bjd/ljad033
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- Publication type:
- Article
Folliculin inactivation and cutaneous leiomyosarcoma in Birt-Hogg-Dubé syndrome.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 4, p. 571, doi. 10.1093/bjd/ljac138
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- Publication type:
- Article
Immune-related adverse events in checkpoint blockade: Observations from human tissue and therapeutic considerations.
- Published in:
- Frontiers in Immunology, 2023, v. 13, p. 1, doi. 10.3389/fimmu.2023.1122430
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- Publication type:
- Article
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1752, doi. 10.1002/ajmg.a.62703
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- Publication type:
- Article
Porocarcinoma: a review.
- Published in:
- Clinical & Experimental Dermatology, 2022, v. 47, n. 6, p. 1030, doi. 10.1111/ced.15126
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- Publication type:
- Article
Response to 'Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours'.
- Published in:
- British Journal of Dermatology, 2022, v. 186, n. 5, p. 913, doi. 10.1111/bjd.20970
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- Publication type:
- Article
TRAF3 and NBR1 both influence the effect of the disease‐causing CYLD(Arg936X) mutation on NF‐κB activity.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 11, p. 1705, doi. 10.1111/exd.14365
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- Publication type:
- Article
Genetic Testing in CYLD Cutaneous Syndrome: An Update.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 427, doi. 10.2147/TACG.S288274
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- Publication type:
- Article
Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 10, p. 1017, doi. 10.1111/exd.14161
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- Publication type:
- Article
Reply: CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort.
- Published in:
- 2020
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- Publication type:
- letter
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12746-w
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- Publication type:
- Article
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association.
- Published in:
- 2018
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- Publication type:
- Case Study
p63 and smooth muscle actin expression in low‐grade spiradenocarcinomas in a case of CYLD cutaneous syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib: The TRAC Randomized Clinical Trial.
- Published in:
- 2018
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- Publication type:
- journal article
Inherited skin tumour syndromes.
- Published in:
- Clinical Medicine, 2017, v. 17, n. 6, p. 562, doi. 10.7861/clinmedicine.17-6-562
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- Publication type:
- Article
Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Tropomyosin Receptor Antagonism in Cylindromatosis (TRAC), an early phase trial of a topical tropomyosin kinase inhibitor as a treatment for inherited CYLD defective skin tumours: study protocol for a randomised controlled trial.
- Published in:
- Trials, 2017, v. 18, p. 1, doi. 10.1186/s13063-017-1812-z
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- Publication type:
- Article
Overexpression of MYB drives proliferation of CYLD-defective cylindroma cells.
- Published in:
- Journal of Pathology, 2016, v. 239, n. 2, p. 197, doi. 10.1002/path.4717
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- Publication type:
- Article
<i>CYLD</i> Genetic Testing for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas.
- Published in:
- PLoS Currents, 2015, p. 16, doi. 10.1371/currents.eogt.45c4e63dd43d62e12228cc5264d6a0db
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- Publication type:
- Article
A Mutational Hotspot in CYLD Causing Cylindromas: A Comparison of Phenotypes Arising in Different Genetic Backgrounds.
- Published in:
- Acta Dermato-Venereologica, 2013, v. 93, n. 6, p. 743, doi. 10.2340/00015555-1590
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- Publication type:
- Article
Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke- Spiegler syndrome with a novel genetic mutation in CYLD.
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- Journal of Cutaneous Pathology, 2012, v. 39, n. 10, p. 977, doi. 10.1111/j.1600-0560.2012.01952.x
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- Publication type:
- Article
Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression.
- Published in:
- Journal of Pathology, 2011, v. 224, n. 3, p. 309, doi. 10.1002/path.2896
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- Publication type:
- Article
Idiopathic Infantile Pyoderma Gangrenosum with Stridor Responsive to Infliximab.
- Published in:
- Pediatric Dermatology, 2009, v. 26, n. 1, p. 65, doi. 10.1111/j.1525-1470.2008.00825.x
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- Publication type:
- Article
Painful Eye Caused by Basal Cell Carcinoma of the Eyelid: Tumour Enlargement Resulting in Trichiasis.
- Published in:
- 2008
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- Publication type:
- Letter