Results 11 to 20 of about 27,333 (156)
Tuberous sclerosis with kidneys angiomyolipomas: a family case
Вестник урологии, 2023 Tuberous sclerosis is one of the forms of monogenic hereditary pathology related to neurocutaneous diseases (phacomatoses). Diagnostic difficulties are associated with pronounced clinical polymorphism and age-dependent onset of symptoms.
A. A. Keln +3 more
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Frontiers in Medicine, 2020 Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC.
Tohru Okanishi +6 more
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Tuberous Sclerosis Complex [PDF]
Seminars in Pediatric Neurology, 2021 Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
Carmona, Jesica Martín +3 more
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NeuroImage: Clinical, 2022 Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes +8 more
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Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]
Anais Brasileiros de Dermatologia, 2018 : Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero +4 more
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Neural Plasticity, 2012 Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1)
Tanjala T. Gipson, Michael V. Johnston
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Frontiers in Oncology, 2021 Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney.
Tetsuya Yamamoto +14 more
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European Journal of Human Genetics, 2006 Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein ...
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Indian Heart Journal, 2013 A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain +3 more
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Tuberous sclerosis: A novel approach to diagnosis
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar +3 more
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