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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 +2 more
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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 +2 more
openaire +5 more sources
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
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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
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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
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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
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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
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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
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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
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Developmental Medicine & Child Neurology, 1966
SUMMARYThirty‐four cases of tuberous sclerosis are discussed and the pertinent literature is reviewed. As noted in previously reported cases the disease often afflicts the heart, kidneys, retina and bones in addition to the brain.The incidence and pattern of inheritance in tuberous sclerosis has not been completely elucidated.
G W, Paulson, C B, Lyle
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SUMMARYThirty‐four cases of tuberous sclerosis are discussed and the pertinent literature is reviewed. As noted in previously reported cases the disease often afflicts the heart, kidneys, retina and bones in addition to the brain.The incidence and pattern of inheritance in tuberous sclerosis has not been completely elucidated.
G W, Paulson, C B, Lyle
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Tuberous Sclerosis Complex: A Review.
Pediatric annals, 2017Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular ...
S. Randle
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American Journal of Surgical Pathology, 2018
Eosinophilic solid and cystic renal cell carcinomas (ESC RCC) is a rare, unique tumor type not yet included in the World Health Organization classification of renal neoplasia.
M. Parilla +6 more
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Eosinophilic solid and cystic renal cell carcinomas (ESC RCC) is a rare, unique tumor type not yet included in the World Health Organization classification of renal neoplasia.
M. Parilla +6 more
semanticscholar +1 more source
Renal manifestation of tuberous sclerosis complex
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. It commonly causes several types of cystic disease and benign tumors (angiomyolipomata) in the kidneys that can both lead to ...
J. Bissler, J. Bissler, J. C. Kingswood
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mTOR inhibitor therapy as a disease modifying therapy for tuberous sclerosis complex
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018Between 1993 and 2003, through experiments involving Drosophila sp., cancer biologists identified the protein kinase known as the mammalian target of rapamycin, its pathway, and its relationship to the genes responsible for tuberous sclerosis. Thereafter,
D. Franz, D. Krueger
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