Results 11 to 20 of about 42,064 (302)
Muller 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
Revista Ciencias Biomédicas, 2015 Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins.
Barboza-Ubarnes Miriam +2 more
doaj +9 more sources
Tuberous sclerosis complex Esclerose tuberosa [PDF]
Anais Brasileiros de Dermatologia, 2012 Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in
Daniela Araujo Rodrigues +2 more
doaj +6 more sources
Tuberous sclerosis complex [PDF]
Cleveland Clinic Journal of Medicine, 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
+10 more sources
Indian Journal of Pediatrics, 2020 Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by mutations in the TSC1 gene (encoding of hamartin) or TSC2 gene (encoding of tuberin). The mutations result in dysregulation of cellular hyperplasia.
Sabia Handa, Mohit Dogra, Madhuri Akella
+10 more sources
Tuberous Sclerosis Complex [PDF]
New 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.
Elisabetta Giglio, M Marchini
openaire +6 more sources
Tuberous sclerosis complex for the pulmonologist [PDF]
European Respiratory Review, 2021 Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either theTSC1orTSC2gene leading to hyperactivation of the mammalian target of rapamycin (mTOR).
Yasmine Rebaine +5 more
openaire +6 more sources
Epilepsia Open, EarlyView., 2022 Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica +6 more
wiley +1 more source
Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Journal of Nepal Medical Association, 2023 Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C. +5 more
doaj +1 more source
The tuberous sclerosis complex [PDF]
Annals of the New York Academy of Sciences, 2010 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism ...
Ksenia A. Orlova, Peter B. Crino
openaire +3 more sources