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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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| 2 |
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014)
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Associations of HLA alleles with specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) (2014)
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| 4 |
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
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Nudel, R; Simpson, NH; Baird, G; O'Hare, A; Conti-Ramsden, G; Bolton, PF; Hennessy, ER; Ring, SM; Davey Smith, G; Francks, C; Paracchini, S; Monaco, AP; Fisher, SE; Newbury, DF
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In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014)
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Abstract:
Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant associations. We found genome-wide significant paternal parent-of-origin effects on chromosome 14q12 (P=3.74×10-8) and suggestive maternal parent-of-origin effects on chromosome 5p13 (P=1.16×10-7). A subsequent targeted association of six single-nucleotide-polymorphisms (SNPs) on chromosome 5 in 313 language-impaired individuals and their mothers from the ALSPAC cohort replicated the maternal effects, albeit in the opposite direction (P=0.001); as fathers' genotypes were not available in the ALSPAC study, the replication analysis did not include paternal parent-of-origin effects. The paternally-associated SNP on chromosome 14 yields a non-synonymous coding change within the NOP9 gene. This gene encodes an RNA-binding protein that has been reported to be significantly dysregulated in individuals with schizophrenia. The region of maternal association on chromosome 5 falls between the PTGER4 and DAB2 genes, in a region previously implicated in autism and ADHD. The top SNP in this association locus is a potential expression QTL of ARHGEF19 (also called WGEF) on chromosome 1. Members of this protein family have been implicated in intellectual disability. In summary, this study implicates parent-of-origin effects in language impairment, and adds an interesting new dimension to the emerging picture of shared genetic etiology across various neurodevelopmental disorders. GWAS of child genotype effects and parent-of-origin effects in SLI identify loci on 5p13 and 14q12. © 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley and Sons Ltd.
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Keyword:
ALSPAC; GWAS; Imprinting; Neurodevelopmental disorder; Specific language impairment
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URL: https://doi.org/10.1111/gbb.12127
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| 5 |
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
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In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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