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Cortical Tubers' Transformation in Pediatric Patients Diagnosed with Tuberous Sclerosis Complex: A Retrospective Longitudinal MRI Analysis. [PDF]
Russo C +14 more
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Transmantle sign-like calcified radial lesion on CT serves as a potential imaging feature for epileptogenic foci in tuberous sclerosis complex: a Case Report. [PDF]
Wang Z +6 more
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Giant Facial Angiofibroma as an Unusual Manifestation of Tuberous Sclerosis Complex. [PDF]
Moore Z +3 more
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Diagnosis of Tuberous Sclerosis Complex
Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous sclerosis complex can be difficult in the young or in individuals with subtle findings. Recently revised consensus diagnostic criteria for tuberous sclerosis complex reflect an improved understanding ...
E Steve, Roach, Steven P, Sparagana
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BackgroundTuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual.
Steven L Roberds +2 more
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Nature Reviews Disease Primers, 2016
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P, Henske +4 more
openaire +4 more sources
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P, Henske +4 more
openaire +4 more sources
Current Opinion in Neurology, 2000
Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly
S P, Sparagana, E S, Roach
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Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical research on tuberous sclerosis complex have flourished in recent years, improving our understanding of its molecular genetics and pathophysiology. Two tuberous sclerosis complex genes cause nearly
S P, Sparagana, E S, Roach
openaire +2 more sources
Mortality in tuberous sclerosis complex
Epilepsy & Behavior, 2021We studied mortality in tuberous sclerosis complex (TSC) by analyzing data from the Tuberous Sclerosis Alliance Natural History Database of 2233 patients from 18 United States TSC centers. Among 31 decedents with data; mean age of death was 29 years. Cause of death could be determined in 26 cases: 11 definitely related to TSC, 14 possibly related to ...
Shridhar Parthasarathy +4 more
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The Indian Journal of Pediatrics, 2004
16month-old-male child with history of hypo pigmented lesion with recurrent attacks of generalized episodes of tonic clonic convulsions since the age of 3 months with g lobal d e v e l o p m e n t a l de l ay (DQ a r o u n d 60) Well circumscribed hypo pigmented lesions 7 in no.
N M, Suryavanshi +3 more
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16month-old-male child with history of hypo pigmented lesion with recurrent attacks of generalized episodes of tonic clonic convulsions since the age of 3 months with g lobal d e v e l o p m e n t a l de l ay (DQ a r o u n d 60) Well circumscribed hypo pigmented lesions 7 in no.
N M, Suryavanshi +3 more
openaire +2 more sources
The Tuberous Sclerosis Complex
Scottish Medical Journal, 1968A typical case of tuberous sclerosis is described with the post-mortem findings. A suggestion is made to aid in the recognition of papilloedema.
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