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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2018
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M Hasbani, Peter B. Crino
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Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M Hasbani, Peter B. Crino
+9 more sources
Neuroimaging in tuberous sclerosis complex
Child's Nervous System, 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.Neuroimaging is crucial for ...
C. Russo +5 more
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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
E. S. Roach, Steven Sparagana
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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
E. S. Roach, Steven Sparagana
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Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Annual review of genomics and human genetics (Print), 2019Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway ...
Catherine L. Salussolia +3 more
semanticscholar +1 more source
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
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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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Epilepsy in Tuberous Sclerosis Complex [PDF]
, 2012 Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem disorder, characterized by the presence of hamartomatous lesions involving different organ systems, including the brain. Epilepsy is the most common presenting symptom, representing a major source of morbidity and mortality.
Novegno, Federica +2 more
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Autism in Tuberous Sclerosis Complex
Journal of Autism and Developmental Disorders, 1998The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD).
Peter E. Tanguay +2 more
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The Tuberous Sclerosis Complex
2008Tuberous sclerosis complex (TSC) is the now preferred name for the autosomal dominant condition also known as tuberous sclerosis (OMIM # 191100). The addition of the term complex (first introduced in 1942 by the pathologist Moolten) emphasizes the multisystem involvement and variable expression of the disease, which “may affect any human organ with ...
Sergiusz Jóźwiak +3 more
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Paediatrics and Child Health, 2008
Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in multiple organs. It is caused by mutations in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. Both genes are tumour suppressor genes and the protein products of the two genes, hamartin and tuberin,
Andrew R. Tee +2 more
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Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in multiple organs. It is caused by mutations in either the TSC1 gene on chromosome 9 or the TSC2 gene on chromosome 16. Both genes are tumour suppressor genes and the protein products of the two genes, hamartin and tuberin,
Andrew R. Tee +2 more
openaire +3 more sources