SFX by Ex Libris Inc.

Title:	Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Source:	Neuron [0896-6273] Sanders, StephanJ yr:2011

Basic

Sorry, no full text available...

Please use the document delivery service (see below)

Holding information

Holdings in library search engine ALBERT

Document delivery

Request document via Library/Bibliothek

Users interested in this article also expressed an interest in the following:
description	1.	Merla, G. "Copy number variants at Williams-Beuren syndrome 7q11.23 region." Human Genetics 128.1 (2010): 3-26.
description	2.	Fichera, M. "Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome." European Journal of Medical Genetics 52.2-3 (2009): 94-100.
description	3.	Sebat, J. "Strong association of de novo copy number mutations with autism." Science 316.5823 (2007): 445-9.
description	4.	Schaaf, C. "Solving the Autism Puzzle a Few Pieces at a Time." Neuron 70.5 (2011): 806-808.
description	5.	Anney, R. "A genomewide scan for common alleles affecting risk for autism." Human Molecular Genetics 19.20 (2010): 4072-4082.
description	6.	Scherer, Stephen W W. "Structural variation of chromosomes in autism spectrum disorder." American Journal of Human Genetics 82.2 (2008): 477-88.
description	7.	Pinto, D. "Functional impact of global rare copy number variation in autism spectrum disorders." Nature 466.7304 (2010): 368-372.
description	8.	Bourgeron, T. "Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders." Nature genetics 39.1 (2007): 25-7.
description	9.	Rutter, Michael, M. "Aetiology of autism: Findings and questions." Journal of intellectual disability research 49.4 (2005): 231-238.
description	10.	Kang, David T A. "Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region." Genetics in medicine 9.7 (2007): 427-41.
description	11.	Brown, X. "Genes Associated with Autism Spectrum Disorder." Brain research bulletin 88.6 (2012): 543-552.
description	12.	Levy, Michael n. "Rare de novo and transmitted copy-number variation in autistic spectrum disorders." Neuron 70.5 (2011): 886-897.
description	13.	Schubert, C. "The genomic basis of the Williams - Beuren syndrome." Cellular and molecular life sciences 66.7 (2008): 1178-97.
description	14.	Stromme, P. "Prevalence Estimation of Williams Syndrome." Journal of child neurology 17.4 (2002): 269-271.
description	15.	Lupski, James R. "Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes." PLoS Genetics 1.6 (2005): 627-633.
description	16.	Aburatani, R. "Global variation in copy number in the human genome." Nature 444.7118 (2006): 444-54.
description	17.	Skuse, David H. "Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist." The British journal of psychiatry 187.6 (2005): 568-572.
description	18.	Depienne, C. "Autism, language delay and mental retardation in a patient with 7q11 duplication." BMJ Case Reports 2009.jun18 1 (2009).
description	19.	Walter, E. "Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome." Neuroscience 164.1: 257-71.
description	20.	Claudia Torniero, C. "Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion." European journal of human genetics 16.8 (2008): 880-7.