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Localization of Fulicin-like Immunoreactivity in the Central Nervous System and Periphery of Biomphalaria glabrata, an Intermediate Host for Schistosomiasis
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In: Journal of Health Disparities Research and Practice (2016)
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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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.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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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.
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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
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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
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Textual Data Selection for Language Modelling in the Scope of Automatic Speech Recognition
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In: Proceedings ICNLSP'2015, International Conference on Natural Language and Speech Processing ; International Conference on Natural Language and Speech Processing ; https://hal.inria.fr/hal-01184192 ; International Conference on Natural Language and Speech Processing, Oct 2015, Alger, Algeria (2015)
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Social in, Social out: How the Brain Responds to Social Language with More Social Language
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In: O'Donnell, MB; Falk, EB; & Lieberman, MD. (2015). Social in, Social out: How the Brain Responds to Social Language with More Social Language. Communication Monographs, 82(1), 31 - 63. doi:10.1080/03637751.2014.990472. UCLA: Retrieved from: http://www.escholarship.org/uc/item/1jx9n148 (2015)
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Working memory and L2 development across the lifespan: a commentary
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Mosaic maternal ancestry in the Great Lakes region of East Africa
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Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.
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In: Mol Psychiatry , 19 (2) 253 - 258. (2014) (2014)
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Cultivating a cycle of trust with diverse communities in practice-based research: A report from PRIME net
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In: Getrich, CM; Sussman, AL; Campbell-Voytal, K; Tsoh, JY; Williams, RL; Brown, AE; et al.(2013). Cultivating a cycle of trust with diverse communities in practice-based research: A report from PRIME net. Annals of Family Medicine, 11(6), 550 - 558. doi:10.1370/afm.1543. UCSF: Retrieved from: http://www.escholarship.org/uc/item/8z088590 (2013)
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Childhood intelligence is heritable, highly polygenic and associated with FNBP1L
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Evidence-based review and assessment of botulinum neurotoxin for the treatment of urologic conditions.
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In: Toxicon , 67 pp. 129-140. (2013) (2013)
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
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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 (2013)
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Historia_de_chuna-MB-2012-11-17-CBR ; 0315-20140203 - Historia_de_chuna-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Historia_de_inu-MB-2012-11-17-CBR ; 0315-20140203 - Historia_de_inu-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Hacer_canasta-MB-2012-11-17-CBR ; 0315-20140203 - Hacer_canasta-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Nuken_chichi-MB-2012-11-17-CBR ; 0315-20140203 - Nuken_chichi-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Relato_sobre_el_muerto-MB-2012-11-17-CBR ; 0315-20140203 - Relato_sobre_el_muerto-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Anuncio_sobre_cocina-MB-2012-10-17-CBR ; 0315-20140203 - Anuncio_sobre_cocina-MB-2012-10-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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MB. - : Daniel Valle, 2012. : University of Texas, Austin, 2012
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Relato_sobre_el_muerto-MB-2012-11-17-CBR ; A documentation of Cashibo-Cacataibo of San Alejandro (Pano) with a Focus on Information Structure
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Differentiating profiles of speech impairments in Friedreich's ataxia: a perceptual and instrumental approach
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