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CpG methylation
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RNDr. Šárka Bendová Ph.D.
Academic staff at Second Faculty of Medicine
18 publications
Publications
publication
The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations
2009 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Localized mosaic neurofibromatosis type 1
2022 |
Second Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
publication
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 |
Second Faculty of Medicine
publication
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
2019 |
Second Faculty of Medicine, First Faculty of Medicine
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