Associated Papers
Identify the origin of de novo variants in TSC patients by ddPCR.
Ni K et al.
Acta Epileptologica, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Recurrent Tuberous Sclerosis Complex/Mammalian Target of Rapamycin Mutations Define Primary Renal Hemangioblastoma as a Unique Entity Distinct From Its Central Nervous System Counterpart.
Wang XT et al.
The American Journal of Surgical Pathology, 2024
Malignant tumors in tuberous sclerosis complex: a case report and review of the literature.
Liu C et al.
Bmc Medical Genomics, 2024
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.
He J et al.
Genetic Testing and Molecular Biomarkers, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Pancreatic Neuroendocrine Tumor in a Young Child With Tuberous Sclerosis Complex 1.
Mehta S et al.
Journal of the Endocrine Society, 2019
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C et al.
Plos One, 2017
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
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
Dunet V et al.
Bmj Case Reports, 2013
Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.
Craiu DC et al.
Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 0