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Research

Development of a video-based evaluation tool in Rett syndrome

This paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).

Research

Seizures in Rett syndrome: an overview from a one-year calendar study

Information on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...

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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of age

In this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...

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Early progressive encephalopathy in boys and MECP2 mutations

MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...

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NTNG1 mutations are a rare cause of Rett syndrome

A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).

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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response

The immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers.

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Relationship between cytokine expression patterns and clinical outcomes: two population-based birth cohorts

Our findings suggest that positive HDM 'allergy tests' and asthma are associated with a broad range of immunophenotypes, which may have important...

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Phenotypic, functional, and plasticity features of classical and alternatively activated human macrophages

Human peripheral blood monocytes were differentiated into uncommitted macrophages (M0) and then polarized to M1 and M2 phenotypes using LPS/IFN-gamma...

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Ultraviolet radiation, vitamin D and multiple sclerosis

Recent work highlights both vitamin D and non-vitamin D effects on cellular immunity that suggests that higher levels of sun exposure and/or vitamin D status...

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The Halls Creek Community Families Program: Elements of the role of the child health nurse in development of a remote

This study measures changes in participants' understanding of the role and scope of practice of the child health nurse facilitator, thereby supporting...