4.5 Article

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Pathology

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

Krinio Giannikou et al.

Summary: SEGAs are slow-growing brain tumors commonly found in patients with Tuberous Sclerosis Complex, characterized by biallelic loss of TSC1 or TSC2. These tumors have an extremely low somatic mutation rate, and highly expressed SEGA-specific transcription factors may contribute to their origin as neuroepithelial cells.

MODERN PATHOLOGY (2021)

Article Clinical Neurology

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Hope Northrup et al.

Summary: The diagnostic criteria and management recommendations for tuberous sclerosis complex (TSC) were revised in 2018 based on advancements in knowledge and new therapies since 2013. Changes were made mainly to clinical and genetic diagnostic criteria, as well as surveillance and management standards. These updates aim to provide an improved care framework for individuals with TSC and their families.

PEDIATRIC NEUROLOGY (2021)

Article Genetics & Heredity

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

Catherine L. Salussolia et al.

Annual Review of Genomics and Human Genetics (2019)

Article Genetics & Heredity

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Alison M. Treichel et al.

GENETICS IN MEDICINE (2019)

Review Urology & Nephrology

Update on the Diagnosis and Management of Renal Angiomyolipoma

Andrew S. Flum et al.

JOURNAL OF UROLOGY (2016)

Article Medicine, General & Internal

Tuberous sclerosis complex

Elizabeth P. Henske et al.

NATURE REVIEWS DISEASE PRIMERS (2016)

Article Biochemistry & Molecular Biology

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

Magdalena E. Tyburczy et al.

HUMAN MOLECULAR GENETICS (2014)

Article Genetics & Heredity

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen-Westerveld et al.

HUMAN MUTATION (2013)

Article Genetics & Heredity

LOVD v.2.0: The Next Generation in Gene Variant Databases

Ivo F. A. C. Fokkema et al.

HUMAN MUTATION (2011)

Letter Biotechnology & Applied Microbiology

Integrative genomics viewer

James T. Robinson et al.

NATURE BIOTECHNOLOGY (2011)