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
"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".
Spanou M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.
Praticò AD et al.
Scientific Reports, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Foetal cardiac rhabdomyoma due to paternal TSC1 Mutation: a case report and literature review.
Nardi E et al.
Pathologica, 2025
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.
Chengyan L et al.
Clinical Genetics, 2024
Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations.
Aksoylu IS et al.
Molecular Autism, 2023
Translatome analysis of Tuberous Sclerosis Complex-1 patient-derived neural progenitor cells reveal rapamycin-dependent and independent alterations.
Aksoylu IS et al.
Research Square, 2023
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY et al.
The American Journal of Surgical Pathology, 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
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C et al.
Orphanet Journal of Rare Diseases, 2022
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Independent temporal lobe epilepsy in patients with tuberous sclerosis complex.
Liu T et al.
Pediatric Investigation, 2022
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia.
Jha R et al.
Brain & Development, 2022
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.
Sudarshan S et al.
Journal of Pediatric Genetics, 2021
Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.
Adib E et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.
Rahman MM et al.
Journal of Epilepsy Research, 2021
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
Barakeh DH et al.
Oncotarget, 2021
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 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
TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.
Martin P et al.
Molecular Autism, 2020
Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study.
Liu YD et al.
Frontiers in Neurology, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.
Glushkova M et al.
Journal of Genetics, 2018
Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.
Gu X et al.
Medicine, 2018
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.
Bongaarts A et al.
Oncotarget, 2017
TSC1/2 mutations define a molecular subset of HCC with aggressive behaviour and treatment implication.
Ho DWH et al.
Gut, 2017
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
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
Yang J et al.
Human Molecular Genetics, 2016
[Detection of TSC1/TSC2 gene mutation for rapid diagnosis of tuberous sclerosis complex by high-throughput sequencing technology].
Huang C
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 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
TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.
Zhang Y et al.
Neuromolecular Medicine, 2015
Genome sequencing identifies a basis for everolimus sensitivity.
Iyer G et al.
Science (new York, N.y.), 2012
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
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND et al.
Human Mutation, 2005
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.
Jeganathan D et al.
Human Genetics, 2002