Results 201 to 210 of about 28,298 (249)
Some of the next articles are maybe not open access.
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 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
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
openaire +5 more sources
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
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
openaire +2 more sources
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
openaire +2 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
openaire +2 more sources
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
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
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
Neurosurgery, 1984
Abstract The clinical. radiological, and pathological characteristics of tuberous sclerosis are reviewed. Neurosurgical intervention in the syndrome is discussed in light of two recently treated cases and a literature review.
M G, Nagib +3 more
openaire +2 more sources
Abstract The clinical. radiological, and pathological characteristics of tuberous sclerosis are reviewed. Neurosurgical intervention in the syndrome is discussed in light of two recently treated cases and a literature review.
M G, Nagib +3 more
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Tuberous sclerosis is characterized by a classic triad: seizures, mental retardation, and cutaneous angiofibromas.
Vlad, Diaconita +5 more
openaire +2 more sources
Vlad, Diaconita +5 more
openaire +2 more sources
SPONGIONEUROBLASTOMA AND TUBEROUS SCLEROSIS
Journal of Neuropathology and Experimental Neurology, 1954In a series of remarkable publications, Globus (1, 2, 3, 4, 5, 6) investigated the histology of primary cerebral neoplasms of neuro-ectodermal origin composed of both neural and glial elements, and established the diagnostic groupings of glioneuromas and spongioneuroblastomas.
openaire +2 more sources