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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 – 15 of 15 1 Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy Piero Pavone, Martino Ruggieri, Simona D Marino, Giovanni Corsello, Xena Pappalardo, Agata Polizzi, Enrico Parano, Catia Romano, Silvia Marino, Andrea Domenico Praticò, Raffaele Falsaperla. - 2020 BASE Show details 2 Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Fountain, Michael D; Oleson, David S; Rech, Megan E... In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019) BASE Show details 3 Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. Berg, Elizabeth L; Copping, Nycole A; Rivera, Josef K... In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018) BASE Show details 4 Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. D'Angelo, D.; Lebon, S.; Chen, Q.... In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016) BASE Show details 5 The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition. Hippolyte, L.; Maillard, A.M.; Rodriguez-Herreros, B.... In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016) BASE Show details 6 Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. Rajakulendran, S; Roberts, J; Koltzenburg, M... In: J Neurol Neurosurg Psychiatry , 84 (11) 1255 - 1257. (2013) (2013) BASE Show details 7 A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Zufferey, F.; Sherr, E.H.; Beckmann, N.D.... In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (2012) BASE Show details 8 Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech Bonnet, F.; Andrieux, A; Béri-Dexheimer, D... In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-02128729 ; Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩ (2010) BASE Show details 9 Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. Jiang, Yong-Hui; Pan, Yanzhen; Zhu, Li. - : Public Library of Science (PLoS), 2010 BASE Show details 10 1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child Cobb, William; Anderson, Arne; Turner, Clesson... In: DTIC (2010) BASE Show details 11 A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms. Woodcock, KA; Oliver, C; Humphreys, GW 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 (2009) BASE Show details 12 Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays. Winchester, L; Newbury, DF; Monaco, AP; Ragoussis, J 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 (2008) Abstract: Copy Number Variants (CNV) and other submicroscopic structural changes are now recognised to be widespread across the human genome. We show that SNP data generated for association study can be utilised for the identification of deletion CNVs. During analysis of data for an SNP association study for Specific Language Impairment (SLI) a deletion was identified. SLI adversely affects the language development of children in the absence of any obvious cause. Previous studies have found linkage to a region on chromosome 16. The deletion was located in a known fragile site FRA16D in intron 5-6 of the WWOX gene (also known as FOR). Changes in the FRA16D site have been previously linked to cancer and are often characterised in cell lines. A long-range PCR assay was used to confirm the existence of the deletion. We also show the breakpoint identification and large-scale characterisation of this CNV in a normal human sample set. Keyword: Base Sequence; Cell Line; Chromosome Deletion; Chromosomes; Databases; DNA; DNA Damage; Gene Dosage; Genetic; Genome; Human; Humans; Molecular Sequence Data; Pair 16; Polymerase Chain Reaction; Polymorphism; Single Nucleotide URL: https://doi.org/10.1159/000184724 BASE Hide details 13 Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy Smith, A.; Marks, R.; Haan, E.. - : BRITISH MED JOURNAL PUBL GROUP, 2006 BASE Show details 14 Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. Smith, M; Woodroffe, A; Smith, R... In: Cytogenetic and genome research, vol 98, iss 4 (2002) BASE Show details 15 The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Lai, CS; Fisher, SE; Hurst, JA... 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 (2000) BASE Show details

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