Results 21 to 30 of about 29,392 (272)

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., Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, Pradeep Maharjan   +5 more
doaj   +1 more source

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex [PDF]

, 2009
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues.
Povey, S, Ekong, Rosemary, David Kwiatkowski, Ans van den Ouweland, Nellist Mark, Halley Dicky, Povey Sue, Sampson, J. (Julian), Povey, S. (Sue), Kwiatkowski, D. (David), Melika Mozaffari, Sampson, Julian Roy, Halley, D, Sampson Julian, Dunnen, JT, Ekong Rosemary, Ekong, R, Nellist, Mark, Sampson, J, van den Ouweland, Ans, Dunnen, J.T. (Johan) den, Dicky Halley, van den Ouweland Ans, Hoogeveen-Westerveld, M. (Marianne), Halley, Dicky, Halley, D.J.J. (Dicky), den Dunnen, Johan T., Johan T den Dunnen, Rosemary Ekong, Sue Povey, Ekong, R. (Rosemary), Nellist, M.D. (Mark), Hoogeveen-Westerveld, M, Ouweland, A.M.W. (Ans) van den, Hoogeveen - Westerveld, Marianne, Mark Nellist, Nellist, M, Povey, Sue, den Dunnen Johan T, Mozaffari, M, Kwiatkowski, David, Kwiatkowski, D, Mozaffari Melika, Julian Sampson, Mozaffari, E. (Melika), Hoogeveen-Westerveld Marianne, van den Ouweland, A, Marianne Hoogeveen-Westerveld, Mozaffari, Melika, Kwiatkowski David, den Dunnen, JT, Hoogeveen-Westerveld, Marianne   +51 more
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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

Tuberous sclerosis complex [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 an unpredictable manner.
Rodrigues, Daniela Araujo, Gomes, Ciro Martins, Costa, Izelda Maria Carvalho   +2 more
openaire   +4 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).
Rebaine, Yasmine, Nasser, Mouhamad, Girerd, Barbara, Leroux, Caroline, Cottin, Vincent   +4 more
openaire   +5 more sources

Review of Tuberous Sclerosis Complex: A Single Center Experience

, 2021
Aim:The aim of this study is to review the clinical features and treatment of tuberous sclerosis complex patients followed up in our hospital and to compare our findings with the literature.Materials and Methods:The clinical-laboratory findings and ...
Ayşe Tosun, Ali Akyol, Akyol, Ali, Tosun, Ayşe, Yüzbaşı, Beste Kıpçak, Beste Kıpçak Yüzbaşı   +5 more
core   +1 more source

Regulation of the mammalian target of rapamycin complex 2 (mTORC2) [PDF]

, 2006
The growth controlling mammalian Target of Rapamycin (mTOR) is a conserved Ser/Thr kinase found in two structurally and functionally distinct complexes, mTORC1 and mTORC2.
Molle, Klaus-Dieter
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Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

A rare case of tuberous sclerosis complex-associated renal cell carcinoma

South African Journal of Radiology, 2022
Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga, Bianca Douglas-Jones, Danelo du Plessis, Camilla E. le Roux, Christel du Buisson, Shahida Moosa   +5 more
doaj   +1 more source

Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex [PDF]

, 2015
Tuberous sclerosis complex is an autosomal dominant genetic disorder that confers a high risk for neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.
Varcin, Kandice J, Jeste, Shafali Spurling, Shafali Spurling Jeste, Kandice J. Varcin, Joyce Y. Wu, Nelson, Charles A, Charles A. Nelson, Mustafa Sahin, Wu, Joyce Y, Jordan Ko, Ko, Jordan, Sahin, Mustafa   +11 more
core   +1 more source