Cargando…

Nipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex

Detalles Bibliográficos
Autores principales:	Nathan, Neera, Tyburczy, Magdalena E., Hamieh, Lana, Wang, Ji-an, Brown, G. Thomas, Lee, Chyi-Chia Richard, Kwiatkowski, David J., Moss, Joel, Darling, Thomas N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733881/ https://www.ncbi.nlm.nih.gov/pubmed/26824744 http://dx.doi.org/10.1016/j.jid.2015.11.015

Ejemplares similares

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
por: Treichel, Alison M, et al.
Publicado: (2019)

TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?
por: Darling, Thomas N., et al.
Publicado: (2021)

Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings
por: Treichel, Alison M., et al.
Publicado: (2023)

Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up
por: Ebrahimi-Fakhari, Daniel, et al.
Publicado: (2017)

Facial Angiofibromas and Periungual Fibromas in Tuberous Sclerosis
por: Tsujimoto, Hiraku, et al.
Publicado: (2017)

Topical rapamycin for facial angiofibromas in tuberous sclerosis complex
por: Safa, Gilles
Publicado: (2017)

Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex
por: Amin, S., et al.
Publicado: (2017)

Isolated Unilateral Facial Angiofibroma or Segmental Tuberous Sclerosis Complex?
por: Supekar, Bhagyashree B., et al.
Publicado: (2021)

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
por: Feliciano, David M.
Publicado: (2020)

Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
por: Rosengren, Thomas, et al.
Publicado: (2020)

Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
por: Mühlebner, Angelika, et al.
Publicado: (2020)

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex
por: Pithadia, Deeti J., et al.
Publicado: (2019)

Therapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC)
por: Auricchio, Neil, et al.
Publicado: (2012)

Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex
por: Okanishi, Tohru, et al.
Publicado: (2020)

Facial Angiofibromas of Tuberous Sclerosis Treated with Topical Sirolimus in an Indian Patient
por: Vasani, Resham J
Publicado: (2015)

Atypical cutaneous presentation of tuberous sclerosis complex: Giant angiofibroma on the scalp
por: Freitas, Leonardo Furtado, et al.
Publicado: (2021)

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
por: Li, Yi, et al.
Publicado: (2018)

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
por: Tyburczy, Magdalena E., et al.
Publicado: (2015)

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments
por: Monaghan, Marie, et al.
Publicado: (2022)

Bronchial angiofibroma in tuberous sclerosis complex: A case report and literature review
por: Teng, Peikun, et al.
Publicado: (2021)

tsc2 mutant zebrafish model of tuberous sclerosis complex
Publicado: (2011)

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis
por: Bykhovskaya, Yelena, et al.
Publicado: (2017)

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
por: Mozaffari, Melika, et al.
Publicado: (2009)

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse
por: Way, Sharon W., et al.
Publicado: (2009)

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece
por: Avgeris, Socratis, et al.
Publicado: (2017)

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
por: Rosset, Clévia, et al.
Publicado: (2017)

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
por: Rosset, Clévia, et al.
Publicado: (2017)

Managing Different Spectrums of Tuberous Sclerosis Facial Angiofibroma: A Report of Two Cases
por: Mustaqim, Khairul, et al.
Publicado: (2023)

Efficacy and Safety of Topical Timolol for the Treatment of Facial Angiofibroma in Children with Tuberous Sclerosis Complex
por: Ghazavi, Mohammadreza, et al.
Publicado: (2023)

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care
por: Annear, Nicholas M. P., et al.
Publicado: (2019)

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases
por: Dedushi, Kreshnike, et al.
Publicado: (2021)

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
por: Müller, Annelieke R., et al.
Publicado: (2023)

Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations
por: Bongaarts, Anika, et al.
Publicado: (2017)

Dermoscopy of facial angiofibromas in Fitzpatrick II‐III phototype subjects affected by tuberous sclerosis complex
por: Lacarrubba, Francesco, et al.
Publicado: (2023)

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
por: Giannikou, Krinio, et al.
Publicado: (2016)

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex
por: Nellist, Mark, et al.
Publicado: (2008)

Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation
por: Huang, Yu-Jing, et al.
Publicado: (2019)

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
por: Ahmad, Saba, et al.
Publicado: (2020)

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
por: Zöllner, Johann Philipp, et al.
Publicado: (2020)

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
por: Müller, Annelieke R., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2j2ekpneiothrtgqv2tnesahtr