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Tuberous Sclerosis

Known as: Bourneville Syndrome, Phacomatosis, Bourneville, TSC 
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and… 
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
BACKGROUND Angiomyolipomas in patients with the tuberous sclerosis complex or sporadic lymphangioleiomyomatosis are associated… 
Highly Cited
2008
Highly Cited
2008
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is… 
Highly Cited
2008
Highly Cited
2008
Tuberous sclerosis complex (TSC) represents one of the most common genetic causes of epilepsy. TSC gene inactivation leads to… 
Review
2006
Review
2006
From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical… 
Highly Cited
2006
Highly Cited
2006
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs. Five to… 
Review
1998
Review
1998
At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex… 
Highly Cited
1998
Highly Cited
1998
BACKGROUND Multiple sclerosis is an inflammatory demyelinating disease of the central nervous system and is the most common cause… 
Highly Cited
1995
Highly Cited
1995
Background: Fetal cardiac rhabdomyoma is a rare condition. Case: We report a case with cardiac mass discovered in utero by…