Results 11 to 20 of about 29,392 (272)

Cardiovascular considerations in tuberous sclerosis [PDF]

open access: yesPediatria i Medycyna Rodzinna, 2017
Tuberous sclerosis complex is a genetic condition with an autosomal dominant pattern of inheritance, with an incidence of approximately 1:10,000, and 1:6,800 in the paediatric population, caused by a mutation of either of two genes: TSC1 on chromosome ...
Joanna Kohut   +4 more
doaj   +2 more sources

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex

open access: yesGMS Ophthalmology Cases, 2016
Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce   +4 more
doaj   +2 more sources

Tuberous sclerosis complex

open access: yesMuller Journal of Medical Sciences and Research, 2014
Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients.
Namitha Chathra, M Ramesh Bhat
doaj   +5 more sources

Tuberous Sclerosis Complex : A Case Report

open access: yesSaintika Medika, 2019
Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2.
Aunur Rofiq   +2 more
doaj   +2 more sources

Tuberous Sclerosis Complex: A Roadmap for Future Research

open access: yesPediatric Neurology Briefs, 2016
Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state ...
Anna Jeong
doaj   +2 more sources

Tuberous sclerosis complex: ADrosophila connection

open access: yesJournal of Biosciences, 2001
Recent findings based on experiments with Drosophila melanogaster significantly advance our understanding of a human disease known as tuberous sclerosis complex (TSC). The present note begins with background information and goes on to explain what these findings are.
Kumar, Arun, Girimaji, SC
openaire   +4 more sources

Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report

open access: yesFrontiers 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
doaj   +1 more source

Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]

open access: yesAnais 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
doaj   +1 more source

Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex

open access: yesFrontiers 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
doaj   +1 more source

Tuberous Sclerosis Complex [PDF]

open access: yesNew England Journal of Medicine, 2017
A 71-year-old man presented for the evaluation of chronic kidney disease and was noted to have erythematous papules on his face and lesions over his toenails suggestive of tuberous sclerosis.
Michele, Marchini, Elisabetta, Giglio
openaire   +4 more sources

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