相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders
Linh Duong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2012)
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Anne Gregor et al.
BMC MEDICAL GENETICS (2011)
Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism
R. J. Delahanty et al.
MOLECULAR PSYCHIATRY (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephan J. Sanders et al.
NEURON (2011)
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
Bridget A. Fernandez et al.
JOURNAL OF MEDICAL GENETICS (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
A coding-independent function of gene and pseudogene mRNAs regulates tumour biology
Laura Poliseno et al.
NATURE (2010)
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Simon G. Gregory et al.
BMC MEDICINE (2009)
Expression of GABAB Receptors Is Altered in Brains of Subjects with Autism
S. Hossein Fatemi et al.
CEREBELLUM (2009)
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
Nuala H. Sykes et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss et al.
NATURE (2009)
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Kai Wang et al.
NATURE (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization
Soo Churl Cho et al.
PSYCHIATRIC GENETICS (2009)
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
Maja Bucan et al.
PLOS GENETICS (2009)
GABAA Receptor Downregulation in Brains of Subjects with Autism
S. Hossein Fatemi et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2009)
The fine-scale and complex architecture of human copy-number variation
George H. Perry et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Disruption of neurexin 1 associated with autism spectrum disorder
Hyung-Goo Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
Susan L. Christian et al.
BIOLOGICAL PSYCHIATRY (2008)
Neurexin 1α structural variants associated with autism
Jin Yan et al.
NEUROSCIENCE LETTERS (2008)
Analysis of the neuroligin 4Y gene in patients with autism
Jin Yan et al.
PSYCHIATRIC GENETICS (2008)
Identifying autism loci and genes by tracing recent shared ancestry
Eric M. Morrow et al.
SCIENCE (2008)
GABA: A pioneer transmitter that excites immature neurons and generates primitive oscillations
Yehezkel Ben-Ari et al.
PHYSIOLOGICAL REVIEWS (2007)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
Yuhei Nishimura et al.
HUMAN MOLECULAR GENETICS (2007)
Challenges and standards in integrating surveys of structural variation
Stephen W. Scherer et al.
NATURE GENETICS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
NATURE GENETICS (2007)
Principal components analysis corrects for stratification in genome-wide association studies
Alkes L. Price et al.
NATURE GENETICS (2006)
Analysis of four neuroligin genes as candidates for autism
T Ylisaukko-oja et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p:: Evidence of association at GRIN2A and ABAT
G Barnby et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Marlin-1, a novel RNA-binding protein associates with GABAB receptors
A Couve et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
F Laumonnier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Circular binary segmentation for the analysis of array-based DNA copy number data
AB Olshen et al.
BIOSTATISTICS (2004)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
分享论文
