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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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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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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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Wiszniewski, W; Hunter, JV; Hanchard, NA; Willer, JR; Shaw, C; Tian, Q; Illner, A; Wang, X; Cheung, SW; Patel, A; Campbell, IM; Gelowani, V; Hixson, P; Ester, AR; Azamian, MS; Potocki, L; Zapata, G; Hernandez, PP; Ramocki, MB; Santos-Cortez, RL; Wang, G; York, MK; Justice, MJ; Chu, ZD; Bader, PI; Omo-Griffith, L; Madduri, NS; Scharer, G; Crawford, HP; Yanatatsaneejit, P; Eifert, A; Kerr, J; Bacino, CA; Franklin, AI; Goin-Kochel, RP; Simpson, G; Immken, L; Haque, ME; Stosic, M; Williams, MD; Morgan, TM; Pruthi, S; Omary, R; Boyadjiev, SA; Win, KK; Thida, A; Hurles, M; Hibberd, ML; Khor, CC; Van Vinh Chau, N; Gallagher, TE; Mutirangura, A; Stankiewicz, P; Beaudet, AL; Maletic-Savatic, M; Rosenfeld, JA; Shaffer, LG; Davis, EE; Belmont, JW; Dunstan, S; Simmons, CP; Bonnen, PE; Leal, SM; Katsanis, N; Lupski, JR; Lalani, SR
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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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Abstract:
White matter hyperintensities (WMHs) of the brain are important markers of aging and small-vessel disease. WMHs are rare in healthy children and, when observed, often occur with comorbid neuroinflammatory or vasculitic processes. Here, we describe a complex 4 kb deletion in 2q36.3 that segregates with early childhood communication disorders and WMH in 15 unrelated families predominantly from Southeast Asia. The premature brain aging phenotype with punctate and multifocal WMHs was observed in ~70% of young carrier parents who underwent brain MRI. The complex deletion removes the penultimate exon 3 of TM4SF20, a gene encoding a transmembrane protein of unknown function. Minigene analysis showed that the resultant net loss of an exon introduces a premature stop codon, which, in turn, leads to the generation of a stable protein that fails to target to the plasma membrane and accumulates in the cytoplasm. Finally, we report this deletion to be enriched in individuals of Vietnamese Kinh descent, with an allele frequency of about 1%, embedded in an ancestral haplotype. Our data point to a constellation of early language delay and WMH phenotypes, driven by a likely toxic mechanism of TM4SF20 truncation, and highlight the importance of understanding and managing population-specific low-frequency pathogenic alleles.
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Keyword:
Age of Onset; Aging; Asian Continental Ancestry Group; Base Sequence; Brain; Child; Chromosomes; DNA; Exons; Female; Genetic Predisposition to Disease; Human; Humans; Language Development Disorders; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Molecular Sequence Data; Pair 2; Pedigree; Premature; Preschool; Sequence Analysis; Sequence Deletion; Tetraspanins
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URL: https://doi.org/10.1016/j.ajhg.2013.05.027
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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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