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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 – 20 of 20 1 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 2 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - : BioMed Central, 2014 BASE Show details 3 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 4 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 5 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2014 BASE Show details 6 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2014 BASE Show details 7 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 F.; Talcott, Joel B.; O'Hare, Anne; Baird, Gillian; Paracchini, Silvia; Fisher, Simon E.; Newbury, Dianne F.; SLI Consortium. - 2013 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. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press. URL: https://publications.aston.ac.uk/id/eprint/21009/1/Increased_prevalence_of_sex_chromosome_aneuploidies_in_specific_language_impairment_and_dyslexia.pdf https://publications.aston.ac.uk/id/eprint/21009/ https://doi.org/10.1111/dmcn.12294 BASE Hide details 8 Individual common variants exert weak effects on the risk for autism spectrum disorders. Anney, Richard; Klei, Lambertus; Pinto, Dalila... In: Human molecular genetics, vol 21, iss 21 (2012) BASE Show details 9 Individual common variants exert weak effects on the risk for autism spectrum disorders ... Folstein, Susan E.; Crawford, Emily L.; Glessner, Joseph T.. - : The University of North Carolina at Chapel Hill University Libraries, 2012 BASE Show details 10 Individual common variants exert weak effects on the risk for autism spectrum disorders Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012 BASE Show details 11 Individual common variants exert weak effects on risk for Autism Spectrum Disorders Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012 BASE Show details 12 Individual common variants exert weak effects on the risk for autism spectrum disorderspi Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012 BASE Show details 13 Individual common variants exert weak effects on the risk for autism spectrum disorderspi Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012 BASE Show details 14 Individual common variants exert weak effects on the risk for autism spectrum disorderspi Anney, Richard; Klei, Lambertus; Pinto, Dalila. - : Oxford University Press, 2012 BASE Show details 15 CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment Newbury, Dianne F.; Winchester, Laura; Addis, Laura. - : Elsevier, 2009 BASE Show details 16 CMIP and ATP2C2 modulate phonological short-term memory in language impairment Simonoff, Emily; Goodyer, Ian M.; Bolton, Patrick F.. - 2009 BASE Show details 17 Aetiological relationship between language performance and autistic-like traits in childhood: a twin study Dworzynski, Katharina; Plomin, Robert; Ronald, Angelica... In: International journal of language & communication disorders. - Oxford : Wiley-Blackwell 42 (2007) 3, 273-292 BLLDB OLC Linguistik Show details 18 A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study Veltman, Marijcke W.M.; Thompson, Russell J.; Craig, Ellen E.. - 2005 BASE Show details 19 Screening for Speech and Language Disorders: the reliability, validity and accuracy of the General Language Screen Stott, Carol M.; Merricks, Melanie J.; Bolton, Patrick F.... In: International journal of language & communication disorders. - Oxford : Wiley-Blackwell 37 (2002) 2, 133-152 OLC Linguistik Show details 20 Screening for speech and language disorders : the reliability, validity and accuracy of the General Language Screen Stott, Carol M.; Merricks, Melanie J.; Bolton, Patrick F.... In: International journal of language & communication disorders. - Oxford : Wiley-Blackwell 37 (2002) 2, 133-151 BLLDB Show details

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