Associated Papers
Identify the origin of de novo variants in TSC patients by ddPCR.
Ni K et al.
Acta Epileptologica, 2025
Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases.
Thai HBD et al.
Clinical and Experimental Pediatrics, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial.
Farach LS et al.
Pediatric Neurology, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
Chung CWT et al.
Molecular Genetics & Genomic Medicine, 2024
Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.
Pal D et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Correction: Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
Demidova EV et al.
Bmc Genomics, 2023
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
Demidova EV et al.
Bmc Genomics, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y et al.
Neuropathology and Applied Neurobiology, 2023
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
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Cornthwaite M et al.
Prenatal Diagnosis, 2022
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S et al.
International Journal of Molecular Sciences, 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
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Yang XY et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic analysis of 18 families with tuberous sclerosis complex.
Yin K et al.
Neurogenetics, 2022
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
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
Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex.
Vargiami E et al.
European Journal of Pediatrics, 2022
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.
Farcaş M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.
Sudarshan S et al.
Journal of Pediatric Genetics, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Eosinophilic Renal Cell Tumors With a TSC and MTOR Gene Mutations Are Morphologically and Immunohistochemically Heterogenous: Clinicopathologic and Molecular Study.
Tjota M et al.
The American Journal of Surgical Pathology, 2020
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.
Di Nardo A et al.
Cell Reports, 2020
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
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.
Ni J et al.
Scientific Reports, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella A et al.
Journal of Medical Genetics, 2019
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
Suspitsin EN et al.
Journal of Human Genetics, 2018
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
Papadopoulou A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.
Yang G et al.
Clinical Genetics, 2017
Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
Cai Y et al.
Urology, 2017
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
Yu T et al.
Clinical Neurology and Neurosurgery, 2017
Institutional implementation of clinical tumor profiling on an unselected cancer population.
Sholl LM et al.
Jci Insight, 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