Results 251 to 260 of about 50,774 (290)
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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
openaire +4 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
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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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2018
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
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Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
openaire +2 more sources