Associated Papers
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z et al.
Human Mutation, 2022
TSC2-mutant uterine sarcomas with JAZF1-SUZ12 fusions demonstrate hybrid features of endometrial stromal sarcoma and PEComa and are responsive to mTOR inhibition.
Chiang S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.
Wang X et al.
Frontiers in Medicine, 2022
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Manzanilla-Romero HH et al.
American Journal of Medical Genetics. Part A, 2021
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
Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.
Ismail NF et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K et al.
Plos Genetics, 2016
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