Related references
Note: Only part of the references are listed.Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2
Pauline Chaste et al.
AUTISM RESEARCH (2014)
Opposite effects on facial morphology due to gene dosage sensitivity
Peter Hammond et al.
HUMAN GENETICS (2014)
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Hreinn Stefansson et al.
NATURE (2014)
The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines
M. Pathania et al.
TRANSLATIONAL PSYCHIATRY (2014)
Selective Regulation of GluA Subunit Synthesis and AMPA Receptor-Mediated Synaptic Function and Plasticity by the Translation Repressor 4E-BP2 in Hippocampal Pyramidal Cells
Israeli Ran et al.
JOURNAL OF NEUROSCIENCE (2013)
CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation
Silvia De Rubeis et al.
NEURON (2013)
PTEN Regulation of Local and Long-Range Connections in Mouse Auditory Cortex
Qiaojie Xiong et al.
JOURNAL OF NEUROSCIENCE (2012)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Christelle Golzio et al.
NATURE (2012)
Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
Peter T. Tsai et al.
NATURE (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin
Robert P. Carson et al.
NEUROBIOLOGY OF DISEASE (2012)
Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice
Aditi Bhattacharya et al.
NEURON (2012)
Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice
Ozlem Bozdagi et al.
PLOS ONE (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
A Genotype Resource for Postmortem Brain Samples from the Autism Tissue Program
Richard F. Wintle et al.
AUTISM RESEARCH (2011)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Rachel D. Burnside et al.
HUMAN GENETICS (2011)
Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
Makiko Meguro-Horike et al.
HUMAN MOLECULAR GENETICS (2011)
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
Silvia De Rubeis et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sebastien Jacquemont et al.
NATURE (2011)
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
Irina Voineagu et al.
NATURE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Protective role of the ubiquitin binding protein Tollip against the toxicity of polyglutamine-expansion proteins
Asami Oguro et al.
NEUROSCIENCE LETTERS (2011)
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex
June Goto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Genetics of autism spectrum disorders
Daniel H. Geschwind
TRENDS IN COGNITIVE SCIENCES (2011)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Jeffrey J. Hutsler et al.
BRAIN RESEARCH (2010)
Overexpression of the Cell Adhesion Protein Neuroligin-1 Induces Learning Deficits and Impairs Synaptic Plasticity by Altering the Ratio of Excitation to Inhibition in the Hippocampus
Regina Dahlhaus et al.
HIPPOCAMPUS (2010)
A genome-wide scan for common alleles affecting risk for autism
Richard Anney et al.
HUMAN MOLECULAR GENETICS (2010)
Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome
Emily K. Osterweil et al.
JOURNAL OF NEUROSCIENCE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
A. Orrico et al.
CLINICAL GENETICS (2009)
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Nathalie Van der Aa et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
Elizabeth A. Varga et al.
GENETICS IN MEDICINE (2009)
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia
Giovanni Coppola et al.
HUMAN MOLECULAR 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)
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)
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
Ilaria Napoli et al.
CELL (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Genome-wide analyses of human perisylvian cerebral cortical patterning
B. S. Abrahams et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Deletion of α-neurexins does not cause a major impairment of axonal pathfinding or synapse formation
Irina Dudanova et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
The Prader-Willi phenotype of fragile X syndrome
Stephen T. Nowicki et al.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2007)
Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome
Douglas C. Bittel et al.
PEDIATRICS (2006)
Local protein synthesis and spine morphogenesis: Fragile X syndrome and beyond
Aaron W. Grossman et al.
JOURNAL OF NEUROSCIENCE (2006)
Pten regulates neuronal arborization and social interaction in mice
Chang-Hyuk Kwon et al.
NEURON (2006)
Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines
Aaron W. Grossman et al.
BRAIN RESEARCH (2006)
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
JAS Vorstman et al.
MOLECULAR PSYCHIATRY (2006)
Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice
BC McKinney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2005)
Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome
R Galvez et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
MG Butler et al.
JOURNAL OF MEDICAL GENETICS (2005)
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications
DP Locke et al.
JOURNAL OF MEDICAL GENETICS (2004)
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
MG Butler et al.
PEDIATRICS (2004)
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
PF Bolton et al.
PSYCHIATRIC GENETICS (2004)
Autism and15q11-q13 disorders: Behavioral, genetic, and pathophyiological issues
EM Dykens et al.
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2004)
mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo
CH Kwon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
A Schenck et al.
NEURON (2003)
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice
SA Irwin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
R Edgar et al.
NUCLEIC ACIDS RESEARCH (2002)
The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
SJ Rogers et al.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2001)
The Autism Genetic Resource Exchange: A resource for the study of autism and related neuropsychiatric conditions
DH Geschwind et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P
A Schenck et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)