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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 – 13 of 13 1 Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment Chen, Xiaowei Sylvia; Reader, Rose H.; Hoischen, Alexander. - : Nature Publishing Group, 2017 BASE Show details 2 <The>> genetics of specific language impairment Nudel, Ron; Ceroni, Fabiola; Simpson, Nuala H.... In: Specific language impairment (Amsterdam, 2015), p. 7-34 MPI für Psycholinguistik Show details 3 Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - : Public Library of Science, 2015 BASE Show details 4 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth. - 2015 BASE Show details 5 Genome-wide screening for DNA variants associated with reading and language traits Gialluisi, Alessandro; Newbury, Dianne F; Wilcutt, Erik G. - 2015 BASE Show details 6 Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2015 BASE Show details 7 Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment Pettigrew, Kerry A.; Reeves, Emily; Leavett, Ruth; Hayiou-Thomas, Marianna E.; Sharma, Anahita; Simpson, Nuala H.; Martinelli, Angela; Thompson, Paul A.; Hulme, Charles; Snowling, Margaret J.; Newbury, Dianne F.; Paracchini, Silvia. - : Public Library of Science, 2015 Abstract: A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions. A substantial genetic component is predicted to underlie such language problems. Copy number variants (CNVs) have been implicated in neurodevelopmental and psychiatric conditions, such as autism and schizophrenia, but it is not fully established to what extent they might contribute to language disorders. We conducted a CNV screen in a longitudinal cohort of young children with language-related difficulties (n = 85), focusing on single events at candidate loci. We detected a de novo deletion on chromosome 15q13.1–13.3. The adjacent 15q11-13.1 locus is disrupted in Prader-Willi and Angelman syndromes, while disruptions across the breakpoints (BP1-BP6) have previously been implicated in different neurodevelopmental phenotypes including autism, intellectual disability (ID), seizures and developmental delay (DD). This is the first report of a deletion at BP3-BP5 being linked to a deficit confined to language impairment, in the absence of ID, expanding the range of phenotypes that implicate the chromosome 15q13 locus. URL: http://wrap.warwick.ac.uk/160104/ https://doi.org/10.1371/journal.pone.0134997 BASE Hide details 8 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - : BioMed Central, 2014 BASE Show details 9 Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. Fisher, Simon E.; Newbury, Dianne F.; Simpson, Nuala H.. - : Nature Publishing Group, 2014 BASE Show details 10 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - : Wiley, 2014 BASE Show details 11 Associations of HLA alleles with specific language impairment Nudel, Ron; Simpson, Nuala H; Baird, Gillian. - 2014 BASE Show details 12 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2014 BASE Show details 13 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, Nuala H.; Addis, Laura; Brandler, William M.. - 2013 BASE Show details

Mobile view All Catalogues UB Frankfurt Linguistik 0 IDS Mannheim 0 OLC Linguistik 0 UB Frankfurt Retrokatalog 0 DNB Subject Category Language 0 Institut für Empirische Sprachwissenschaft 0 Leibniz-Centre General Linguistics (ZAS) 0 Bibliographies BLLDB 0 BDSL 0 IDS Bibliografie zur deutschen Grammatik 0 IDS Bibliografie zur Gesprächsforschung 0 IDS Konnektoren im Deutschen 0 IDS Präpositionen im Deutschen 0 IDS OBELEX meta 0 MPI-SHH Linguistics Collection 0 MPI for Psycholinguistics 1 Linked Open Data catalogues Annohub 0 Online resources Link directory 0 Journal directory 0 Database directory 0 Dictionary directory 0 Open access documents BASE 12 Linguistik-Repository 0 IDS Publikationsserver 0 Online dissertations 0 Language Description Heritage 0