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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.. - 2013 BASE Show 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; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L.; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Fombonne, Eric; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Green, Andrew; Green, Jonathan; Guter, Stephen J.; Heron, Elizabeth A.; Holt, Richard; Howe, Jennifer L.; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M.; Lamb, Janine A.; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C.; Magalhaes, Tiago R.; Mantoulan, Carine; McDougle, Christopher J.; Melhem, Nadine M.; Merikangas, Alison; Minshew, Nancy J.; Mirza, Ghazala K.; Munson, Jeff; Noakes, Carolyn; Papanikolaou, Katerina; Pagnamenta, Alistair T.; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Renshaw, Katy; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L.; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C.; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P.; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Vorstman, JAS; Wallace, Simon; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J.; Battaglia, Agatino; Cantor, Rita M.; Coon, Hilary; Cuccaro, Michael L.; Dawson, Geraldine; Ennis, Sean; Freitag, Christine M.; Geschwind, Daniel H.; Haines, Jonathan L.; Klauck, Sabine M.; McMahon, William M.; Maestrini, Elena; Miller, Judith; Monaco, Anthony P.; Nelson, Stanley F.; Nurnberger, John I.; Oliveira, Guiomar; Parr, Jeremy R.; Pericak-Vance, Margaret A.; Piven, Joseph; Schellenberg, Gerard D.; Scherer, Stephen W.; Vicente, Astrid M.; Wassink, Thomas H.; Wijsman, Ellen M.; Betancur, Catalina; Buxbaum, Joseph D.; Cook, Edwin H.; Gallagher, Louise; Gill, Michael; Hallmayer, Joachim; Paterson, Andrew D.; Sutcliffe, James S.; Szatmari, Peter; Vieland, Veronica J.; Hakonarson, Hakon; Devlin, Bernie. - : Oxford University Press, 2012 Abstract: While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse , might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P -value from secondary analyses is rs1718101. It falls in CNTNAP2 , a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2 . In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest. Keyword: Article URL: https://doi.org/10.1093/hmg/dds301 http://hmg.oxfordjournals.org/cgi/content/short/dds301v1 BASE Hide 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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