Results 11 to 20 of about 34,220 (292)

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, R Eeraveni, S Ponnuraj, N Kamarthi   +3 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

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 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, E. V. Semenova, O. L. Keln, M. S. Shvedskyi   +3 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

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
core   +1 more source

White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex

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, Charlotte Tye, Jacques-Donald Tournier, Anna J.E. Combes, Elizabeth Shephard, Holan Liang, Gareth J. Barker, Chiara Nosarti, Patrick Bolton   +8 more
doaj   +1 more source

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   +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
core   +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