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TSC1
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Tuberous sclerosis
2011 |
Faculty of Medicine in Hradec Králové
publication
Genotype/phenotype correlation in Czech tuberous sclerosis patients
2016 |
Second Faculty of Medicine
publication
Low-grade oncocytic tumour of the kidney is characterised by genetic alterations of TSC1, TSC2, MTOR or PIK3CA and consistent GATA3 positivity
2023 |
Faculty of Medicine in Pilsen
publication
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
2020 |
Second Faculty of Medicine
publication
Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes
2021 |
Third Faculty of Medicine
publication
What is your diagnosis? Multiple rhabdomyoma of the heart and disorder of neuronal migration in the brain (precursor to cortical tuber) as a part ot the tuberous sclerosis syndrome
2011 |
Second Faculty of Medicine
publication
Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study
2022 |
Central Library of Charles University
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Second Faculty of Medicine
publication
mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus
2021 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science, Central Library of Charles University
publication
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases
2022 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Fetal heart rhabdomyomatosis: a single-center experience
2021 |
Publication without faculty affiliation
publication
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
2020 |
Second Faculty of Medicine
publication
Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment
2017 |
Second Faculty of Medicine
publication
Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression
2016 |
Second Faculty of Medicine
publication
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas
2020 |
Second Faculty of Medicine
publication
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
2021 |
Second Faculty of Medicine