Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
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
Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
Huang J et al.
Bmc Pulmonary Medicine, 2022
36117164 (PubMed )
Supplement: 12890_2022_2154_MOESM4_ESM.xlsx › sheet1
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
35358092 (PubMed )
Supplement: jci-132-155858-s185.xlsx › Supplemental_Table_2.1.
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X et al.
Annals of the American Thoracic Society, 2021
33171065 (PubMed )
Supplement: tian_data_supplement.pdf
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
32555378 (PubMed )
Supplement: 41598_2020_66588_MOESM1_ESM.pdf
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
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
25782670 (PubMed )
Supplement: ejhg201547x1.xls › details
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