X-linked intellectual disability
Novel Missense Mutation A789V in IQSEC2 underlies X Linked intellectual disability in the MRX78 family
... including X-linked intellectual disability (XLID) has recently been accelerated by next-generation DNA sequencing ...human X chromosome genes involved in neuronal signaling pathways and ...
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
... skewed X inactivation in blood. We conclude that 1.) X-linked intellectual disability type Nascimento is a clinically very distinct entity that might be underdiagnosed to ...skewed ...
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A Child With Mild X-Linked Intellectual Disability and a Microduplication at Xp22.12 Including RPS6KA3
... Multiplex ligation-dependent probe amplification (MLPA) and array- comparative genomic hybridization analysis have been proven to be useful in the identification of submicroscopic copy-number imbalances in families with ...
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Altered fronto striatal functions in the Gdi1 null mouse model of X linked intellectual disability
... Abstract—RAB-GDP dissociation inhibitor 1 ( GDI1 ) loss-of- function mutations are responsible for a form of non- specific X-linked Intellectual Disability (XLID) where the only clinical ...
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X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner
... Fig. 1 CASK deletion from Purkinje cells or granule cells does not alter cerebellar development. a Representative brain sections from two months old control mice carrying a floxed CASK gene (X flCASK /Y) and mice ...
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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
... with X-linked ...other X chromosome related diseases ...the X chromosome, but is applicable to screen for tandem repeats on other chromosomes as ...
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A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation
... the X-linked intellectual disability gene (XLID) CASK is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia ...
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Phf8 gene mutation screening for rs121918522 in clinically identified children with siderius xlid
... with intellectual disability (Siderius et ...type X-linked intellectual disability with cleft ...Siderius X-linked mental ...
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A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
... an X-linked syndromic disorder hallmarked by microcephaly, growth retardation, and ...an X-linked intellectual disability (XLID) next-generation sequencing diagnostic panel, we ...
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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
... Fig. 2 Discretized ChIP-Seq profile overview of different markers across different tissues or cell types. The data come from profile – control comparisons of Roadmap Epigenomics Project data using MACS v2.1.0. The y-axis ...
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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C
... the intellectual disability and seizure phe- notypes in individuals with KDM5C ...that X-linked genes escaping X-inactivation such as KDM5C are likely to be implicated in neurocognitive ...
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Who's challenging who training for staff empathy towards adults with challenging behaviour : cluster randomised controlled trial
... In earlier pilot research (Hutchinson et al. 2014 ), we trained two adults with ID and CB to co-deliver 10 small group training courses to 76 staff with a trainer without disability. A comparison of pre-training ...
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Psychopathology of mental and behavioral disorders in people with intellectual disability
... Intellectual disability is congenital or very early acquired irreversible developmental disorders manifested by a significant reduction in mental performance and intellectual ...functions. ...
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Understanding compassion in intellectual disability services
... with intellectual disabilities has the potential to be seen as patronising them for simply having an intellectual ...in intellectual disability services so they can be effectively supported to ...
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Smartwatch and Intellectual Disability : Designing an app that improves the lives of people with an intellectual disability and their caretakers
... (the disability to use public transportation), self-care (the person’s hygiene forms a medical/social risk), safety to others (persons’ behavior places other people at risk), social relationships (person risks ...
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A STUDY ON LEVEL OF AWARENESS ON ETIOLOGY OF INTELLECTUAL DISABILITY AMONG PARENTS OF CHILDREN WITH INTELLECTUAL DISABILITY
... of disability issues among the general public - disabled and non-disabled people - with the aim of changing negative attitudes about disabled people into positive recognition of our skills, needs and ...
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Description of routes in people with intellectual disability
... The aim of the current experiment was to study how individuals with intellectual disability express their route knowledge using verbal descriptions. From an ecological point of view, the situation which ...
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An analysis of disability - linked annuities
... the disability-linked annuity is substantially higher than in the case of the single life disability-linked annuity considered ...survivor disability-linked annuities will tend ...
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Wh- questions and individuals with intellectual disability
... fragile X syndrome, or fragile X syndrome with co-morbid autism have been shown to display lower conceptual receptive vocabulary ability than children who are typically developing and matched on non-verbal ...
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Loneliness in older people with an intellectual disability
... the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA), and because of the broad-ranging scope of the conceptual ...
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