Results 21 to 30 of about 34,220 (292)
Neural Plasticity, 2012 Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1)
Tanjala T. Gipson, Michael V. Johnston
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Review of Tuberous Sclerosis Complex: A Single Center Experience
, 2021 Aim:The aim of this study is to review the clinical features and treatment of tuberous sclerosis complex patients followed up in our hospital and to compare our findings with the literature.Materials and Methods:The clinical-laboratory findings and ...
Ayşe Tosun +5 more
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European Journal of Human Genetics, 2006 Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein ...
openaire +2 more sources
Indian Heart Journal, 2013 A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain +3 more
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Frontiers in Oncology, 2021 Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney.
Tetsuya Yamamoto +14 more
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A rare case of tuberous sclerosis complex-associated renal cell carcinoma
South African Journal of Radiology, 2022 Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga +5 more
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Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options [PDF]
, 2014 Shelly Wang,1 Aria Fallah2,3 1Department of Neurosurgery, University of Toronto, Toronto, ON, Canada; 2Department of Neurosurgery, Miami Children’s Hospital, Miami, FL, USA; 3Department of Clinical Epidemiology and Biostatistics, McMaster ...
Wang, Shelly +3 more
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Journal of Patient-Reported Outcomes, 2018 Background Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, including non-cancerous kidney lesions known as renal angiomyolipomas.
Anne M. Rentz +8 more
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Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Journal of Nepal Medical Association, 2023 Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C. +5 more
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