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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 Engaging multiple stakeholders to improve speech and language therapy services in schools: an appreciative inquiry-based study Gallagher, A. L.; Murphy, CA.; Conway, P. F.. - : BioMed Central, 2019 BASE Show details 2 CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children Bishop, D.V.M.; Snowling, M.J.; Thompson, P.A.. - : Public Library of Science, 2016 BASE Show details 3 CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children Bishop, DVM; Snowling, MJ; Thompson, PA... In: PLoS ONE , 11 (7) , Article e0158753. (2016) (2016) BASE Show details 4 CATALISE: A multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children Baird, G; Carter, G; Westerveld, M. - : Public Library of Science, 2016 BASE Show details 5 Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. D'Angelo, D.; Lebon, S.; Chen, Q.; Martin-Brevet, S.; Snyder, L.G.; Hippolyte, L.; Hanson, E.; Maillard, A.M.; Faucett, W.A.; Macé, A.; Pain, A.; Bernier, R.; Chawner, S.J.; David, A.; Andrieux, J.; Aylward, E.; Baujat, G.; Caldeira, I.; Conus, P.; Ferrari, C.; Forzano, F.; Gérard, M.; Goin-Kochel, R.P.; Grant, E.; Hunter, J.V.; Isidor, B.; Jacquette, A.; Jønch, A.E.; Keren, B.; Lacombe, D.; Le Caignec, C.; Martin, C.L.; Männik, K.; Metspalu, A.; Mignot, C.; Mukherjee, P.; Owen, M.J.; Passeggeri, M.; Rooryck-Thambo, C.; Rosenfeld, J.A.; Spence, S.J.; Steinman, K.J.; Tjernagel, J.; Van Haelst, M.; Shen, Y.; Draganski, B.; Sherr, E.H.; Ledbetter, D.H.; van den Bree, M.B.; Beckmann, J.S.; Spiro, J.E.; Reymond, A.; Jacquemont, S.; Chung, W.K. In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016) Abstract: IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (≤40) and higher than the mean (>100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits. Keyword: Adolescent; Adult; Autism Spectrum Disorder/epidemiology; Autism Spectrum Disorder/genetics; Autistic Disorder/epidemiology; Autistic Disorder/genetics; Case-Control Studies; Cerebellum/abnormalities; Child; Chromosome Deletion; Chromosome Disorders/epidemiology; Chromosome Disorders/genetics; Chromosome Duplication; Chromosomes; Cognition; Cohort Studies; Comorbidity; Developmental Disabilities/epidemiology; Developmental Disabilities/genetics; DNA Copy Number Variations; Epilepsy/epidemiology; Epilepsy/genetics; Female; Human; Humans; Intellectual Disability/epidemiology; Intellectual Disability/genetics; Male; Microcephaly/epidemiology; Microcephaly/genetics; Middle Aged; Nervous System Malformations/epidemiology; Nervous System Malformations/genetics; Pair 16/genetics; Preschool; Schizophrenia/epidemiology; Schizophrenia/genetics; Schizophrenic Psychology; Young Adult URL: https://doi.org/10.1001/jamapsychiatry.2015.2123 https://serval.unil.ch/resource/serval:BIB_FA7E8A43283E.P001/REF.pdf https://serval.unil.ch/notice/serval:BIB_FA7E8A43283E http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_FA7E8A43283E4 BASE Hide details 6 Family risk of dyslexia is continuous: Individual differences in the precursors of reading skills Snowling, M.J.; Gallagher, A.; Frith, U.. - : Wiley-Blackwell, 2003 BASE Show details 7 Family risk of dyslexia is continuous: individual differences in the precursors of reading skill. Frith, U; Gallagher, A; Snowling, MJ 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 8 Family risk of dyslexia is continuous: individual differences in the precursors of reading skill Snowling, M.; Gallagher, A.; Frith, U. In: Child Development , 74 (2) pp.358 - 373 . (2003) (2003) BASE Show details 9 Family risk of dyslexia is continuous: Individual differences in the precursors of reading skill Snowling, MJ; Gallagher, A; Frith, U In: CHILD DEV , 74 (2) 358 - 373. (2003) (2003) BASE Show details 10 Family risk of dyslexia is continuous: individual differences in the precursors of reading skill Snowling, M; Gallagher, A; Frith, U In: Child Development , 74 (2) pp.358-373. (2003) (2003) BASE Show details 11 Precursors of literacy delay among children at genetic risk of dyslexia Gallagher, A; Frith, U; Snowling, MJ In: J CHILD PSYCHOL PSYC , 41 (2) 203 - 213. (2000) (2000) BASE Show details 12 Precursors of literacy delay among children at genetic risk of dyslexia. Gallagher, A; Frith, U; Snowling, MJ 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) (2000) BASE Show details 13 Phonological processing skills of dyslexic students in higher education: a preliminary report. Snowling, M; Nation, K; Moxham, P... In: Journal of Research in Reading , 20 pp. 31-41. (1997) (1997) BASE Show details 14 Phonological difficulties in high-functioning dyslexics [<Journal>] Gallagher, A. M. [Verfasser]; Laxon, V. [Verfasser]; Armstrong, E. [Verfasser]. DNB Subject Category Language Show details 15 Phonological difficulties in high-functioning dyslexics Gallagher, A M; Laxon, V; Armstrong, E... In: Reading and writing. - New York, NY : Springer Science+Business Media 8 (1996) 6, 499-510 OLC Linguistik Show details 16 Is developmental dyslexia a disconnection syndrome? Evidence from PET scanning Paulesu, E; Frith, U; Snowling, M... In: BRAIN , 119 143 - 157. (1996) (1996) BASE Show details

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