Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.
George SL et al.
Cancer Discovery, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 2024
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis : For the China Epilepsy Gene 1.0 Project.
Shen N et al.
Acta Epileptologica, 2024
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
mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
Caliò A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Genomics driven precision oncology in advanced biliary tract cancer improves survival.
Kumar-Sinha C et al.
Neoplasia (new York, N.y.), 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity.
Williamson SR et al.
Histopathology, 2023
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
Independent temporal lobe epilepsy in patients with tuberous sclerosis complex.
Liu T et al.
Pediatric Investigation, 2022
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.
Sudarshan S et al.
Journal of Pediatric Genetics, 2021
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2021
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex.
Lu Q et al.
Orphanet Journal of Rare Diseases, 2020
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME 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
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS et al.
Acta Neuropathologica, 2019
Concurrent Eosinophilic Solid and Cystic Renal Cell Carcinoma and Angiomyolipoma With Epithelial Cysts in the Setting of Tuberous Sclerosis Complex: A Rare Synchronous Occurrence of 2 Distinct Entities.
Cho WC et al.
International Journal of Surgical Pathology, 2019
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.
Georgescu MM et al.
Oncotarget, 2019
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
Eyal O et al.
Molecular Genetics & Genomic Medicine, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
The genomic landscape of tuberous sclerosis complex.
Martin KR et al.
Nature Communications, 2017
Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice.
Robens BK et al.
Neurobiology of Disease, 2016
Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.
Pompili G et al.
European Journal of Radiology, 2009
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
Lugnier C et al.
Journal of Neuropathology and Experimental Neurology, 2009
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC et al.
Bmc Medical Genetics, 2006
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.
Jeganathan D et al.
Human Genetics, 2002
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC et al.
American Journal of Human Genetics, 1999
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
van Slegtenhorst M et al.
Journal of Medical Genetics, 1999
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y et al.
Human Mutation, 1999
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
Ali JB et al.
Journal of Medical Genetics, 1998
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL et al.
Annals of Human Genetics, 1998
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J et al.
Annals of Human Genetics, 1998