Associated Papers
Fibroma-Like PEComa as an Early Indicator of Tuberous Sclerosis Complex: Confirmed With Strong GPNMB Expression and TSC2 Germline Mutation.
Yin X et al.
International Journal of Surgical Pathology, 2026
Direct measurement of the male germline mutation rate in individuals using sequential sperm samples.
Shoag JE et al.
Nature Communications, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.
Unknown Author
Familial Cancer, 2020
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A et al.
Oncotarget, 2017
Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE et al.
European Journal of Human Genetics : Ejhg, 2016
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
Biallelic TSC gene inactivation in tuberous sclerosis complex.
Crino PB et al.
Neurology, 2010
[Analysis of gene mutations in two patients with tuberous sclerosis complex].
Yuan CD et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Au KS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC et al.
Bmc Medical Genetics, 2006
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N et al.
European Journal of Pediatrics, 2002
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL et al.
American Journal of Human Genetics, 2001
Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy YS et al.
Annals of Human Genetics, 1999