Agnieszka Charzewska

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Modulation of a turgor-growth movement called circumnutation in sunflower (Helianthus annuus L.) was investigated using a picture analysis system. Two photoperiod conditions were applied: light–darkness conditions (LD) 8:8 and LD 20:10. After about 3 weeks of these regimes, the plants were placed under constant light to determine whether circadian(More)
Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed(More)
Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. In the past various classification systems for HLDs have been used, based on imaging(More)
To the Editor: X-linked intellectual disability (XLID) accounts for ∼10% of intellectually disabled males, and much attention has been focused on the genetics of XLID over a few last decades (1). Mutations causing monogenic XLID have been reported in over 100 genes; however, the role of several of the genes in XLID pathogenesis has been recently questioned.(More)
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a(More)
OBJECTIVE To examine the role of the IRF6 mutations in Polish families with Van der Woude syndrome and popliteal pterygium syndrome and to determine the effect of IRF6 single nucleotide polymorphisms (rs7552506, rs2013162, and rs2235375) on cleft lip and/or palate susceptibility. DESIGN IRF6 mutation screening was performed by direct sequencing of all(More)
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