Urologiia
[Clinical case of delayed diagnosis of tuberous sclerosis].
Alyaev YG, Shpot EV, Akopyan GN, Goryacheva KM, Chinenov DV, Gadzhieva ZK, Kodzokov MA, Damiev AD, Geleje PB
A clinical case of successful drug treatment of multiple renal angiomyolipomas in patient with tuberous sclerosis is presented, which suggests potenti ...
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Source: PubMed
Cardiol Young 2020 Jan 27
Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial.
Stelmaszewski EV, Parente DB, Farina A, Stein A, Gutierrez A, Raquelo-Menegassio AF, Manterola C, de Sousa CF, Victor C, Maki D, Morón EM, de Abrantes FF, Iqbal F, Camacho-Vilchez J, Jimenez-Pavón J, Polania JP, Thompson L, Bonanato L, Diebold M, Da Silva MVCP, Nashwan MWJ, Galvani MAG, Idris OEA, Danos P, Ortiz-Lopez R, Mahmoud RAA, Gresse S, Loss KL
Tuberous sclerosis complex is a rare genetic disorder leading to the growth of hamartomas in multiple organs, including cardiac rhabdomyomas. Children ...
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Source: PubMed
Neurosciences (Riyadh)
Infantile atypical subependymal giant cell astrocytoma.
Almubarak AO, Abdullah J, Al Hindi H, AlShail E
Subependymal giant cell astrocytoma is a benign WHO grade I intraventricular tumor arise in patients with tuberous sclerosis complex. Previous reporte ...
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Source: PubMed
Eur. J. Paediatr. Neurol. 2020 Jan 07
Counselling in tuberous sclerosis complex: A survey on content and satisfaction in the Netherlands.
Hulshof HM, Brenner J, Overwater IE, Wit MC, Braun KPJ, Jansen FE
Tuberous sclerosis complex (TSC) is a highly variable condition and its clinical features cannot reliably be predicted from the genotype. Counselling ...
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Source: PubMed
Hum. Genet. 2020 Jan 24
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y, Zhang L, Liu W, Jiang Y, Chen X, Lan X, Li G, Hang Q, Wang J, Gusella JF, Du Y, Shen Y
CHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutati ...
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Source: PubMed
