Results 31 to 40 of about 29,392 (272)
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
doaj +1 more source
Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]
Clin Case RepABSTRACT Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by multisystem hamartomas caused by pathogenic variants in TSC1 or TSC2. It is typically diagnosed in childhood, most often because of neurological or dermatological manifestations.
Fekih A +6 more
europepmc +2 more sources
Clinical case of manifestation of tuberous sclerosis in a child
Zdorovʹe Rebenka, 2021 We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi +4 more
doaj +1 more source
The paradox of autophagy in Tuberous Sclerosis Complex [PDF]
Genetics and Molecular Biology, 2021 Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by germline mutations in TSC1 or TSC2 genes, which leads to the hyperactivation of the mTORC1 pathway, an important negative regulator of autophagy. This leads to the development of hamartomas in multiple organs.
Larissa Brussa Reis +4 more
openaire +6 more sources
Early autism symptoms in infants with tuberous sclerosis complex [PDF]
, 2017 Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age.
Shafali S. Jeste +20 more
core +1 more source
Tuberous sclerosis: A novel approach to diagnosis
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar +3 more
doaj +1 more source
Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus
Pharmacological Research, 2023 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali +6 more
doaj +1 more source
Atypical Face Processing in Children With Tuberous Sclerosis Complex [PDF]
, 2013 There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex ...
Jeste, Shafali Spurling +8 more
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Therapeutics for Tuberous Sclerosis
, 2023 Tuberous Sclerosis Complex (TSC) is a disease characterized by abnormal hamartomas and benign neoplasms in multiple organs. The diagnosis is made by the presence of 2 major features, or 1 major feature accompanied by 2 minor features.
Daniel Lovasz; Amanda Henderson, MD
core
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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