Associated Papers
Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
Tao X et al.
Histopathology, 2026
Identify the origin of de novo variants in TSC patients by ddPCR.
Ni K et al.
Acta Epileptologica, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
Clinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Gao W et al.
Pathology, Research and Practice, 2025
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis.
Eser M et al.
Molecular Genetics and Genomics : Mgg, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
Tjota MY et al.
Human Pathology, 2023
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z et al.
Human Mutation, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Genetic analysis of 18 families with tuberous sclerosis complex.
Yin K et al.
Neurogenetics, 2022
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME et al.
Scientific Reports, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.
Zheng LY et al.
The Journal of Dermatology, 2018
The genomic landscape of tuberous sclerosis complex.
Martin KR et al.
Nature Communications, 2017
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C et al.
Plos One, 2017
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
Tyburczy ME et al.
Human Molecular Genetics, 2014
High-resolution melting analysis is a more effective approach for screening TSC genes mutations.
Tsai TS et al.
Genetic Testing and Molecular Biomarkers, 2011
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC et al.
Bmc Medical Genetics, 2006