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        181-192 of 786 results for 'genetic'

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        Pre-existing differences in mothers of children with Autism Spectrum disorder and/or intellectual disability: A review

        The aim of this study is to review research on the pre-existing characteristics which differentiate mothers of children with ASD and/or ID of unknown cause... ...

        Research

        The Dyslexia Candidate Locus on 2p12 Is Associated with General Cognitive Ability and White Matter Structure

        To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. ...

        Research

        SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

        Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

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        Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

        We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry ...

        Research

        The complement system in systemic lupus erythematosus: An update

        Jonatan Leffler JL PhD Senior Research Officer jonatan.leffler@telethonkids.org.au Senior Research Officer Dr. Leffler got his PhD from Lund University in Sweden studying the autoimmune disease SLE. He has since moved to Perth and the Telethon Kids ...

        Research

        Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

        Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing ...

        Research

        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

        Research

        Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitis

        Recent birth cohort studies showed a significant interaction between cat ownership at birth and mutations in FLG on the development of early‐onset atopic dermatitis ...

        Research

        Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: Findings from the pregnancy and childhood epigenetics (PACE) consortium

        we meta-analysed the association between pre-pregnancy maternal BMI and methylation at over 450,000 sites in newborn blood DNA, across 19 cohorts. ...

        Research

        Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

        Atopic dermatitis (AD) is a commonly occurring chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing atopic... ...

        Research

        Fine mapping under linkage peaks for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil

        The transforming growth factor-beta pathway is important in the immunopathogenesis of Visceral leishmaniasis ...

        Research

        Cardiometabolic disease risk markers are increased following burn injury in children

        Burn injury in children causes prolonged systemic effects on physiology and metabolism leading to increased morbidity and mortality, yet much remains undefined regarding the metabolic trajectory towards specific health outcomes. ...

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