Results 11 to 20 of about 5,402,382 (253)

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, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado   +4 more
doaj   +2 more sources

Cardiovascular considerations in tuberous sclerosis [PDF]

Pediatria 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, Bogusław Mazurek, Jacek Pająk, Lesław Szydłowski, Aleksandra Morka   +4 more
doaj   +2 more sources

Tuberous sclerosis complex [PDF]

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   +4 more sources

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

GMS 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, Kunstmann, Erdmute, König, Thomas, Matlach, Juliane, Kampik, Daniel   +4 more
doaj   +2 more sources

Tuberous Sclerosis Complex : A Case Report

Saintika 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, Lita Setyowati, Aninda Fitri Nugrahani   +2 more
doaj   +3 more sources

Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex. [PDF]

Epilepsia
Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Guo D, Han L, Rensing NR, Jansen LA, Wong M.   +4 more
europepmc   +2 more sources

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

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, Taigo Kato, Koji Hatano, Atsunari Kawashima, Takeshi Ujike, Shinichiro Fukuhara, Hiroshi Kiuchi, Ryoichi Imamura, Naokazu Ibuki, Kazuma Kiyotani, Masako Kurashige, Eichi Morii, Kazutoshi Fujita, Norio Nonomura, Motohide Uemura   +14 more
doaj   +1 more source

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

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, Tohru Okanishi, Ayataka Fujimoto, Ayataka Fujimoto, Hideo Enoki, Masaaki Ogai, Masaaki Ogai   +6 more
doaj   +1 more source

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).
Rebaine, Yasmine, Nasser, Mouhamad, Girerd, Barbara, Leroux, Caroline, Cottin, Vincent   +4 more
openaire   +5 more sources

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   +2 more sources