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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 – 16 of 16 1 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Anney, R; Klei, L; Pinto, D; Almeida, J; Bacchelli, E; Baird, G; Bolshakova, N; Bölte, S; Bolton, PF; Bourgeron, T; Brennan, S; Brian, J; Casey, J; Conroy, J; Correia, C; Corsello, C; Crawford, EL; de Jonge, M; Delorme, R; Duketis, E; Duque, F; Estes, A; Farrar, P; Fernandez, BA; Folstein, SE; Fombonne, E; Gilbert, J; Gillberg, C; Glessner, JT; Green, A; Green, J; Guter, SJ; Heron, EA; Holt, R; Howe, JL; Hughes, G; Hus, V; Igliozzi, R; Jacob, S; Kenny, GP; Kim, C; Kolevzon, A; Kustanovich, V; Lajonchere, CM; Lamb, JA; Law-Smith, M; Leboyer, M; Le Couteur, A; Leventhal, BL; Liu, XQ; Lombard, F; Lord, C; Lotspeich, L; Lund, SC; Magalhaes, TR; Mantoulan, C; McDougle, CJ; Melhem, NM; Merikangas, A; Minshew, NJ; Mirza, GK; Munson, J; Noakes, C; Nygren, G; Papanikolaou, K; Pagnamenta, AT; Parrini, B; Paton, T; Pickles, A; Posey, DJ; Poustka, F; Ragoussis, J; Regan, R; Roberts, W; Roeder, K; Roge, B; Rutter, ML; Schlitt, S; Shah, N; Sheffield, VC; Soorya, L; Sousa, I; Stoppioni, V; Sykes, N; Tancredi, R; Thompson, AP; Thomson, S; Tryfon, A; Tsiantis, J; Van Engeland, H; Vincent, JB; Volkmar, F; Vorstman, JA; Wallace, S; Wing, K; Wittemeyer, K; Wood, S; Zurawiecki, D; Zwaigenbaum, L; Bailey, AJ; Battaglia, A; Cantor, RM; Coon, H; Cuccaro, ML; Dawson, G; Ennis, S; Freitag, CM; Geschwind, DH; Haines, JL; Klauck, SM; McMahon, WM; Maestrini, E; Miller, J; Monaco, AP; Nelson, SF; Nurnberger, JI; Oliveira, G; Parr, JR; Pericak-Vance, MA; Piven, J; Schellenberg, GD; Scherer, SW; Vicente, AM; Wassink, TH; Wijsman, EM; Betancur, C; Buxbaum, JD; Cook, EH; Gallagher, L; Gill, M; Hallmayer, J; Paterson, AD; Sutcliffe, JS; Szatmari, P; Vieland, VJ; Hakonarson, H; Devlin, B 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 ; ORA review team (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: Alleles; Child; Child Development Disorders; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Language Development; Male; Membrane Proteins; Nerve Tissue Proteins; Pervasive; Polymorphism; Risk Factors; Single Nucleotide URL: https://doi.org/10.1093/hmg/dds301 BASE Hide details 2 DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Scerri, TS; Morris, AP; Buckingham, LL... 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 (2011) BASE Show details 3 Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Newbury, DF; Paracchini, S; Scerri, TS... 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 (2011) BASE Show details 4 Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. Villanueva, P; Newbury, DF; Jara, L... 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 (2011) BASE Show details 5 A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Addis, L; Friederici, AD; Kotz, SA... 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 (2010) BASE Show details 6 Genetic advances in the study of speech and language disorders. Newbury, DF; Monaco, AP 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) ; CrossRef (2010) BASE Show details 7 CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Clark, A; Bishop, DV; Monaco, AP... 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 (2009) BASE Show details 8 A functional genetic link between distinct developmental language disorders. Vernes, SC; Newbury, DF; Abrahams, BS... 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 (2008) BASE Show details 9 Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Falcaro, M; Pickles, A; Newbury, DF... 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 (2008) BASE Show details 10 Response to paper by Molloy et al.: linkage on 21q and 7q in autism subset with regression. Parr, JR; Lamb, JA; Bailey, AJ... 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 (2006) BASE Show details 11 Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. MacDermot, KD; Bonora, E; Sykes, N... 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 (2005) BASE Show details 12 Genetic influences on language impairment and phonological short-term memory. Monaco, AP; Bishop, DV; Newbury, DF 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 (2005) BASE Show details 13 FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder. Lai, CS; Gerrelli, D; Monaco, AP... 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 (2003) BASE Show details 14 Molecular evolution of FOXP2, a gene involved in speech and language. Enard, W; Przeworski, M; Fisher, SE... 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) ; CrossRef (2002) BASE Show details 15 The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Lai, CS; Fisher, SE; Hurst, JA... 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 (2000) BASE Show details 16 Localisation of a gene implicated in a severe speech and language disorder. Fisher, SE; Vargha-Khadem, F; Watkins, KE... 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 (1998) BASE Show details

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