Results 241 to 250 of about 50,774 (290)

A case of confirmed mosaic tuberous sclerosis complex with isolated shagreen patch as the sole cutaneous manifestation. [PDF]

JAAD Case Rep
Pitock E, Doyle A.
europepmc   +1 more source

A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified. [PDF]

Oxf Med Case Reports
Salahat D, Mujahed R, Jaber M, Tahayneh M, Khalifa N, Alnjoom Q, Sabra R, Doudin M, Sabra R, AbuAlrub I.   +9 more
europepmc   +1 more source

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex. [PDF]

Epilepsia
Sánchez Fernández I, Soldatelli MD, Miller GN, Gout CF, Broekhuizen EC, den Hertog ICJ, Pijs DA, Apostolopoulos E, Kaur P, Ouaalam A, Bebin ME, Northrup H, Krueger DA, Wu JY, Cohen AL, Sahin M, Karimi D, Warfield SK, Peters JM, TACERN Study Group and the Developmental Synaptopathies Consortium–RDCRN Study Group.   +19 more
europepmc   +1 more source

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]

Front Radiol
Wang Z, Liu X, Huang K, Zhang C, Yang H, Yang X, Liu S.   +6 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Tuberous Sclerosis

Neurologic Clinics, 1987
Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.
R, Hanno, R, Beck
openaire   +2 more sources

Tuberous Sclerosis

Dermatologic Clinics, 1995
Tuberous sclerosis complex is a disorder of cellular differentiation and proliferation that is inherited as an autosomal dominant trait with variable penetrance and a high spontaneous mutation rate. Lesions occur in the brain, skin, kidneys, heart, and other organs.
E S, Roach, M R, Delgado
openaire   +2 more sources

Tuberous sclerosis

Survey of Ophthalmology, 1985
Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face.
R, Williams, D, Taylor
openaire   +2 more sources

Tuberous sclerosis

2013
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.
P, Curatolo, B L, Maria
openaire   +2 more sources

Tuberous sclerosis

The Lancet, 2007
Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.
CURATOLO, PAOLO, Bombardieri, R, Jozwiak S.   +2 more
openaire   +5 more sources

Tuberous sclerosis complex

Pediatric Clinics of North America, 2015
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable.
Monica P, Islam, E Steve, Roach
openaire   +4 more sources