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Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
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Many silences: an application of grid-group cultural theory to reticence in Saudi Arabian educational institutions
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A low literacy targeted talking book about radiation therapy for cancer: development and acceptability
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The effect of preclinical Alzheimer's disease on age-related changes in intelligence in cognitively normal older adults
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In: Harrington, K.D., Dang, C., Lim, Y.Y., Ames, D., Laws, S.M., Pietrzak, R.H., Rainey-Smith, S. <https://researchrepository.murdoch.edu.au/view/author/Rainey-Smith, Stephanie.html>, Robertson, J., Rowe, C.C., Salvado, O., Villemagne, V.L., Masters, C.L. and Maruff, P. (2018) The effect of preclinical Alzheimer's disease on age-related changes in intelligence in cognitively normal older adults. Intelligence, 70 . pp. 22-29. (2018)
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Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
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In: Biochemistry and Microbiology (2016)
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Rethinking constructed action
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In: Sign Language & Linguistics , 18 (2) pp. 167-204. (2015) (2015)
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The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains
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Eicher, J. D.; Stein, C. M.; Deng, F.; Ciesla, A. A.; Powers, N. R.; Boada, R.; Smith, S. D.; Pennington, B. F.; Iyengar, S. K.; Lewis, B. A.; Gruen, J. R.. - 2015
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Abstract:
A major milestone of child development is the acquisition and use of speech and language. Communication disorders, including speech sound disorder (SSD), can impair a child's academic, social and behavioral development. Speech sound disorder is a complex, polygenic trait with a substantial genetic component. However, specific genes that contribute to SSD remain largely unknown. To identify associated genes, we assessed the association of the DYX2 dyslexia risk locus and markers in neurochemical signaling genes (e.g., nicotinic and dopaminergic) with SSD and related endophenotypes. We first performed separate primary associations in two independent samples – Cleveland SSD (210 affected and 257 unaffected individuals in 127 families) and Denver SSD (113 affected individuals and 106 unaffected individuals in 85 families) – and then combined results by meta-analysis. DYX2 markers, specifically those in the 3′ untranslated region of DCDC2 (P = 1.43 × 10–4), showed the strongest associations with phonological awareness. We also observed suggestive associations of dopaminergic-related genes ANKK1 (P = 1.02 × 10–2) and DRD2 (P = 9.22 × 10–3) and nicotinic-related genes CHRNA3 (P = 2.51 × 10–3) and BDNF (P = 8.14 × 10–3) with case–control status and articulation. Our results further implicate variation in putative regulatory regions in the DYX2 locus, particularly in DCDC2, influencing language and cognitive traits. The results also support previous studies implicating variation in dopaminergic and nicotinic neural signaling influencing human communication and cognitive development. Our findings expand the literature showing genetic factors (e.g., DYX2) contributing to multiple related, yet distinct neurocognitive domains (e.g., dyslexia, language impairment, and SSD). How these factors interactively yield different neurocognitive and language-related outcomes remains to be elucidated.
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URL: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492462/ http://www.ncbi.nlm.nih.gov/pubmed/25778907 https://doi.org/10.1111/gbb.12214
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Genome-wide screening for DNA variants associated with reading and language traits
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Framing constructed action in British Sign Language narratives
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In: JOURNAL OF PRAGMATICS , 55 119 - 139. (2013) (2013)
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Predicate structures, gesture, and simultaneity in the representation of action in British Sign Language: evidence from deaf children and adults.
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In: J Deaf Stud Deaf Educ , 18 (3) 370 - 390. (2013) (2013)
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An Exploration of the Relationship between Contextual School Factors and the Mental Well-Being of Students Recognised as Experiencing SEBD
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Basal insulin and cardiovascular and other outcomes in dysglycemia.
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In: New England Journal of Medicine, vol. 367, no. 4, pp. 319-328 (2012)
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n-3 fatty acids and cardiovascular outcomes in patients with dysglycemia.
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In: New England Journal of Medicine, vol. 367, no. 4, pp. 309-318 (2012)
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Show and tell: Framing and narrating constructed action in signed and spoken languages
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In: UNSPECIFIED, Institute of German Sign Language and Communication of the Deaf, University of Hamburg. (2011) (2011)
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Defining and annotating constructed action, constructed dialogue and role shift
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In: Presented at: 33rd Annual Meeting of the German Linguistic Society, Workshop on Sign Language Discourse. (2011) (2011)
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The role of embodiment in the representation of actions in British Sign Language: Evidence from deaf children
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In: Presented at: 11th International Cognitive Linguistics Conference. (2011) (2011)
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A Critical Comparison of the National Curriculum Physical Education 2000 and 2008
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The story of a university knowledge exchange actor-network told through the sociology of translation: a case study
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The role of animacy in the acquisition of entity constructions in British Sign Language
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In: Presented at: 10th Theoretical Issues in Sign Language Research Conference. (2010) (2010)
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