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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 – 18 of 18 1 Étude de l’appropriation de l’orthographe française langue seconde/étrangère d’élèves arabophones du secondaire en Égypte Ahmed, Doaa M. H.. - 2013 BASE Show details 2 Investigating word learning in fragile X syndrome: a fast-mapping study. McDuffie, Andrea; Kover, Sara T; Hagerman, Randi... In: Journal of autism and developmental disorders, vol 43, iss 7 (2013) BASE Show details 3 Language development in preschool years: The role of urbanity of residential place ... : Η γλωσσική ανάπτυξη κατά την προσχολική ηλικία: Ο ρόλος της αστικότητας της περιοχής διαμονής ... Ntouma, Maria; Vorria, Panayiota. - : Scientific Annals - School of Psychology AUTh, 2013 BASE Show details 4 Three-year-olds hide their communicative intentions in appropriate contexts. Grosse, Gerlind; Scott-Phillips, Thomas C; Tomasello, Michael. - : American Psychological Association (APA), 2013 BASE Show details 5 What's in a link: associative and taxonomic priming effects in the infant lexicon. Arias-Trejo, N; Plunkett, K 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 (2013) BASE Show details 6 Caracterização do nível de consciência fonológica em crianças de idade pré-escolar Antunes, Célia Ferreira. - 2013 BASE Show details 7 Evaluation der kompensatorischen Sprachförderung: Abschlussbericht Wolf, Katrin; Stanat, Petra; Wendt, Wolfgang In: 77 (2013) BASE Show details 8 Evaluation der kompensatorischen Sprachförderung: erster Zwischenbericht Wolf, Katrin; Stanat, Petra; Wendt, Wolfgang In: 65 (2013) BASE Show details 9 Evaluation der kompensatorischen Sprachförderung: zweiter Zwischenbericht Wolf, Katrin; Stanat, Petra; Wendt, Wolfgang In: 76 (2013) BASE Show details 10 Predicate structures, gesture, and simultaneity in the representation of action in British Sign Language: evidence from deaf children and adults. Cormier, K; Smith, S; Sevcikova, Z In: J Deaf Stud Deaf Educ , 18 (3) 370 - 390. (2013) (2013) BASE Show details 11 Effect of teenage motherhood on cognitive outcomes in children: a population-based cohort study. Morinis, J; Carson, C; Quigley, MA 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) BASE Show details 12 TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. 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 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) 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. 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 URL: https://doi.org/10.1016/j.ajhg.2013.05.027 BASE Hide details 13 Generalist genes and cognitive abilities in Chinese twins. Wong, SW; Ho, CS; Bishop, DV... 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) BASE Show details 14 The relationship between gender, receptive vocabulary, and literacy from school entry through to adulthood. Law, J; Rush, R; Parsons, S... In: Int J Speech Lang Pathol , 15 (4) pp. 407-415. (2013) (2013) BASE Show details 15 The organization of attention in typical development: a new preschool attention test battery. Breckenridge, K; Braddick, O; Atkinson, J In: Br J Dev Psychol , 31 (Pt 3) 271 - 288. (2013) (2013) BASE Show details 16 Étude de l’appropriation de l’orthographe française langue seconde/étrangère d’élèves arabophones du secondaire en Égypte Ahmed, Doaa M. H.. - 2013 BASE Show details 17 School readiness of moderately preterm children at preschool age Perricone, G.; Morales, M.; Anzalone, G.. - : Springer Science+Business Media B.V., 2013. : country:IT, 2013 BASE Show details 18 Narrative Development in Preschool and School-Age Children Hegsted, Sara In: Undergraduate Honors Capstone Projects (2013) BASE Show details

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