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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.. - : Nature Publishing Group, 2014 BASE Show details 10 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, Nuala H.; Addis, Laura; Brandler, William M.; Slonims, Vicky; Clark, Ann; Watson, Jocelynne; Scerri, Thomas S.; Hennessy, Elizabeth R.; Bolton, Patrick F.; Conti-Ramsden, Gina; Fairfax, Benjamin P.; Knight, Julian C.; Stein, John; Talcott, Joel B.; O'Hare, Anne; Baird, Gillian; Paracchini, Silvia; Fisher, Simon E.; Newbury, Dianne F.; Consortium, Sli. - : Wiley, 2014 Abstract: AIM Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. METHOD Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). RESULTS In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. INTERPRETATION The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals. ; casl ; 56 ; pub ; 3479 ; pub ; 4 URL: https://hdl.handle.net/20.500.12289/3479 http://onlinelibrary.wiley.com/doi/10.1111/dmcn.12294/pdf https://eresearch.qmu.ac.uk/handle/20.500.12289/3479 http://10.1111/dmcn.12294 BASE Hide 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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