Results 111 to 120 of about 27,333 (156)
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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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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
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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
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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
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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
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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
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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
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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
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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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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
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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
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Chest, 1995
We describe the clinical presentation, pulmonary function tests, chest radiograph, and computed tomography findings, response to hormonal treatment, and duration of survival of nine patients with pulmonary involvement in tuberous sclerosis complex with follow-up over an average of 17 years (range, 1 to 35 years) since diagnosis.
M, Castro +4 more
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We describe the clinical presentation, pulmonary function tests, chest radiograph, and computed tomography findings, response to hormonal treatment, and duration of survival of nine patients with pulmonary involvement in tuberous sclerosis complex with follow-up over an average of 17 years (range, 1 to 35 years) since diagnosis.
M, Castro +4 more
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