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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 13 of 13 1 Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Chen, Xiaowei Sylvia; Reader, Rose H.; Hoischen, Alexander. - : Nature Publishing Group, 2017 BASE Show details 2 <The>> genetics of specific language impairment Nudel, Ron; Ceroni, Fabiola; Simpson, Nuala H.... In: Specific language impairment (Amsterdam, 2015), p. 7-34 MPI für Psycholinguistik Show details 3 Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - : Public Library of Science, 2015 BASE Show details 4 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - 2015 BASE Show details 5 Genome-wide screening for DNA variants associated with reading and language traits Gialluisi, Alessandro; Newbury, Dianne F; Wilcutt, Erik G. - 2015 BASE Show details 6 Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2015 BASE Show details 7 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - : Public Library of Science, 2015 BASE Show details 8 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - : BioMed Central, 2014 BASE Show details 9 Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Fisher, Simon E.; Newbury, Dianne F.; Simpson, Nuala H.; Bacchelli, Elena; Donnelly, Peter; Maestrini, Elena; Conti-Ramsden, Gina; Pagnamenta, Alistair T.; Hennessy, Elizabeth R.; Martin, Hilary; Baird, Gillian; Parr, Jeremy; Bolton, Patrick F.; Clark, Ann; Francks, Clyde; Ceroni, Fabiola; Bentley, David R.. - : Nature Publishing Group, 2014 Abstract: Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379-bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband's affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region. ; Paper adds to the growing body of evidence that children can acquire phonological systems before they are able to master the phonetic skills needed to convey the contrasts in that system ; casl ; 22 ; pub ; 3409 ; pub ; 10 URL: https://eresearch.qmu.ac.uk/handle/20.500.12289/3409 http://10.1038/ejhg.2014.4 https://hdl.handle.net/20.500.12289/3409 http://www.nature.com/ejhg/journal/v22/n10/pdf/ejhg20144a.pdf BASE Hide details 10 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - : Wiley, 2014 BASE Show details 11 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2014 BASE Show details 12 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2014 BASE Show details 13 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2013 BASE Show details

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