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
Clinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Gao W et al.
Pathology, Research and Practice, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
39669605 (PubMed )
Supplement: mmc1.pdf
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
37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf
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
A contemporary guide to chromosomal copy number profiling in the diagnosis of renal cell carcinoma.
Gupta S et al.
Urologic Oncology, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z et al.
Human Mutation, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
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
34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf
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
33679864 (PubMed )
Supplement: Table_1.XLSX › Sheet1
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C et al.
Plos One, 2017
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