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One or more keywords matched the following items that are connected to Thiele, Elizabeth
Item TypeName
Academic Article Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Academic Article Tuberous sclerosis complex and the ketogenic diet.
Academic Article Managing epilepsy in tuberous sclerosis complex.
Academic Article Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.
Academic Article Efficacy of sirolimus in treating tuberous sclerosis and lymphangioleiomyomatosis.
Academic Article SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Academic Article Subependymal giant cell tumors in tuberous sclerosis complex.
Academic Article Intrafamilial phenotypic variability in tuberous sclerosis complex.
Academic Article Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet.
Academic Article Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients.
Academic Article Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.
Academic Article Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile.
Academic Article Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex.
Academic Article Multifocal micronodular pneumocyte hyperplasia: computed tomographic appearance and follow-up in tuberous sclerosis complex.
Academic Article The natural history of epilepsy in tuberous sclerosis complex.
Academic Article Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review.
Academic Article Case records of the Massachusetts General Hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney.
Academic Article Low glycemic index treatment for epilepsy in tuberous sclerosis complex.
Academic Article Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex.
Academic Article Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.
Academic Article Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors.
Academic Article Cognitive prognosis of patients with tuberous sclerosis complex.
Academic Article Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: Clinical and neuropathologic findings.
Academic Article Metaplastic bone in a cortical tuber of a young patient with tuberous sclerosis complex.
Academic Article Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex.
Academic Article Cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation.
Academic Article Psychological profile of adults with tuberous sclerosis complex.
Academic Article Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
Academic Article Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
Academic Article Prognostic significance of tuber count and location in tuberous sclerosis complex.
Academic Article Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions.
Academic Article Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex.
Academic Article Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.
Academic Article Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex.
Academic Article Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs.
Academic Article Anorexia nervosa in a child with tuberous sclerosis complex.
Academic Article Behavior problems in children with tuberous sclerosis complex and parental stress.
Academic Article Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Academic Article Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature.
Academic Article Tuberous sclerosis complex and myocardial fat-containing lesions: a report of four cases.
Academic Article Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
Academic Article Diffuse cerebral language representation in tuberous sclerosis complex.
Academic Article Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.
Academic Article Progressive calcified tuber in a young male with tuberous sclerosis complex.
Academic Article Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis.
Academic Article Role of mutational analysis in diagnosis of tuberous sclerosis complex.
Academic Article Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease.
Academic Article Managing and understanding epilepsy in tuberous sclerosis complex.
Academic Article TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.
Academic Article MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex.
Academic Article Vigabatrin-related magnetic resonance imaging abnormalities in an infant with tuberous sclerosis complex and infantile spasms.
Academic Article Decreased language laterality in tuberous sclerosis complex: a relationship between language dominance and tuber location as well as history of epilepsy.
Academic Article Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG.
Academic Article Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Academic Article Are cortical tubers epileptogenic? Evidence from electrocorticography.
Academic Article Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.
Academic Article Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Concept Tuberous Sclerosis
Concept Sclerosis
Academic Article The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines.
Academic Article Cardiac fat-containing lesions are common in tuberous sclerosis complex.
Academic Article Clobazam therapy of refractory epilepsy in tuberous sclerosis complex.
Academic Article Klüver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis.
Academic Article Erratum to: The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines.
Academic Article Epileptic spasms in tuberous sclerosis complex.
Academic Article Stressor-related disorders in tuberous sclerosis.
Academic Article Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Academic Article Lymphedema in tuberous sclerosis complex.
Academic Article Renal cell carcinoma in tuberous sclerosis complex.
Academic Article Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
Academic Article Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis.
Academic Article Arachnoid cysts in tuberous sclerosis complex.
Academic Article Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
Academic Article Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex.
Academic Article Intracranial arteriopathy in tuberous sclerosis complex.
Academic Article Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC).
Academic Article Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex.
Academic Article Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.
Academic Article Thyroid nodules on chest CT of patients with tuberous sclerosis complex.
Academic Article Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis.
Academic Article Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.
Academic Article Tuberous sclerosis complex.
Academic Article Sporadic versus Tuberous Sclerosis Complex-Associated Angiomyolipomas: Predictors for Long-Term Outcomes following Transcatheter Embolization.
Academic Article Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex.
Academic Article Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.
Academic Article Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study.
Academic Article Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study.
Academic Article Fibroma-like PEComa: A Tuberous Sclerosis Complex-related Lesion.
Academic Article Tuberous sclerosis complex: Five new things.
Academic Article Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.
Academic Article Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Academic Article TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling.
Academic Article A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex.
Academic Article Juvenile cataract in association with tuberous sclerosis complex.
Academic Article The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex.
Academic Article Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Academic Article Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Academic Article Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Academic Article Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin.
Academic Article TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?
Academic Article The long-term efficacy of cannabidiol in the treatment of refractory epilepsy.
Academic Article Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Academic Article Growth Curves of Subependymal Giant Cell Tumors in Tuberous Sclerosis Complex.
Academic Article Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
Search Criteria
  • Sclerosis
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.