Associated Papers
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.
Liu C et al.
Bmc Medical Genomics, 2024
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations.
Wang W et al.
Genetics and Molecular Biology, 2022
Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous Reports.
Mowrey K et al.
Frontiers in Neurology, 2021
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.
Kondo T et al.
Legal Medicine (tokyo, Japan), 2019
Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.
Tong L et al.
Theranostics, 2019
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2016
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Tyburczy ME et al.
Plos Genetics, 2015
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND et al.
Human Mutation, 2005
Transmantle dysplasia in tuberous sclerosis: clinical features and surgical outcome in four children.
Vigliano P et al.
Journal of Child Neurology, 2002
Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM).
Goncharova EA et al.
The Journal of Biological Chemistry, 2002