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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... 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) BASE Show 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; Monaco, AP; Pembrey, ME 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) Abstract: Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language. Keyword: Chromosome Mapping; Chromosomes; Female; Genetic Linkage; Genetic Markers; Genotype; Human; Humans; Language Disorders; Lod Score; Male; Pair 7; Pedigree; Speech Disorders URL: https://doi.org/10.1038/ng0298-168 BASE Hide details

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