Search Results - "Buchanan, Caroline B"
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The Relationship between Autism and Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders
Published in Journal of personalized medicine (01-12-2020)“…Considerable interest has arisen concerning the relationship between hereditary connective tissue disorders such as the Ehlers-Danlos syndromes…”
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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Published in Journal of neurodevelopmental disorders (14-05-2022)“…Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to…”
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Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment
Published in Biomedicines (01-05-2024)“…Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is…”
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Behavioral profiles in Rett syndrome: Data from the natural history study
Published in Brain & development (Tokyo. 1979) (01-02-2019)“…Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and…”
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Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series
Published in Journal of medical genetics (01-07-2022)“…While an association between full mutation CGG-repeat expansions of the ( ) gene and connective tissue problems are clearly described, problems in fragile X…”
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Hand stereotypies: Lessons from the Rett Syndrome Natural History Study
Published in Neurology (28-05-2019)“…OBJECTIVETo characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT). METHODSData from 1,123 girls and women enrolled in…”
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