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        Home paint exposures and risk of childhood acute lymphoblastic leukemia: findings from the Childhood Leukemia International Consortium

        This paper demonstrated that home paint exposure shortly before conception, during pregnancy, and/or after birth appeared to increase the risk of childhood ALL. ...

        Research

        Familial aggregation of childhood and adult cancer in the Utah genealogy

        We explored familial aggregation of cancer in a population-based case-control study using genealogical record linkage and designed to overcome limitations of... ...

        Research

        Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia

        The association between parental smoking and risk of childhood acute lymphoblastic leukemia (ALL) was investigated ...

        Research

        Participation in population-based case-control studies: does the observed decline vary by socio-economic status?

        Participation in population-based case-control studies: does the observed decline vary by socio-economic status? ...

        Research

        The phenotype associated with a large deletion on MECP2

        Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene. ...

        Research

        How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents. ...

        Research

        Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

        This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

        Research

        In-utero exposures and the evolving epidemiology of paediatric allergy

        This paper discusses the rising prevalence of allergic disease in children. This review article considers recent findings in the field of paediatric immune... ...

        Research

        A systematic review of prevention interventions to reduce prenatal alcohol exposure and fetal alcohol spectrum disorder in Indigenous communities

        Liz Martyn Milne Symons E MS MPH PhD B.A. (Hons) PhD. Honorary Emeritus Fellow Honorary Research Associate 08 6319 1672 martyn.symons@telethonkids.org.au Honorary Emeritus Fellow Postdoctoral Researcher Liz is an epidemiologist specialising in the ...

        Research

        Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

        We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. ...

        Research

        In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffold

        Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico. ...

        Research

        Inhibition of the master regulator of Listeria monocytogenes virulence enables bacterial clearance from spacious replication vacuoles in infected macrophages

        A hallmark of Listeria (L.) monocytogenes pathogenesis is bacterial escape from maturing entry vacuoles, which is required for rapid bacterial replication in the host cell cytoplasm and cell-to-cell spread. The bacterial transcriptional activator PrfA controls expression of key virulence factors that enable exploitation of this intracellular niche. ...

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