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。CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders
Elena A. Repnikova et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo et al.
GENETICS IN MEDICINE (2019)
Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder
Valentina R. Garbarino et al.
PHARMACOLOGICAL RESEARCH (2019)
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment
Andrew J. Schork et al.
NATURE NEUROSCIENCE (2019)
De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application
Weidi Wang et al.
FRONTIERS IN GENETICS (2019)
The contribution of environmental exposure to the etiology of autism spectrum disorder
Sven Bolte et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2019)
Widespread RNA editing dysregulation in brains from autistic individuals
Stephen S. Tran et al.
NATURE NEUROSCIENCE (2019)
Dysregulated enzymatic antioxidant network in peripheral neutrophils and monocytes in children with autism
Ahmed Nadeem et al.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY (2019)
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
Taejeong Bae et al.
SCIENCE (2018)
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review
Lara J. Duffney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2018)
Serotonin receptor regulation as a potential mechanism for sexually dimorphic oxytocin dysregulation in a model of Autism
Kimbra A. Edwards et al.
BRAIN RESEARCH (2018)
Progress in the genetics of autism spectrum disorder
Marc Woodbury-Smith et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)
Relationship between absolute and relative ratios of glutamate, glutamine and GABA and severity of autism spectrum disorder
Hanoof Al-Otaish et al.
METABOLIC BRAIN DISEASE (2018)
Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition
Luye Qin et al.
NATURE NEUROSCIENCE (2018)
Dendritic spine anomalies and PTEN alterations in a mouse model of VPA-induced autism spectrum disorder
Usman Mahmood et al.
PHARMACOLOGICAL RESEARCH (2018)
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
Sofia Stamouli et al.
TWIN RESEARCH AND HUMAN GENETICS (2018)
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster
Janani Iyer et al.
NATURE COMMUNICATIONS (2018)
Sex Differences in Autism Spectrum Disorder: a Review
Sarah L. Ferri et al.
CURRENT PSYCHIATRY REPORTS (2018)
De novo mutations in regulatory elements in neurodevelopmental disorders
Patrick J. Short et al.
NATURE (2018)
Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice
Hwajin Jung et al.
NATURE NEUROSCIENCE (2018)
Somatic mosaicism and neurodevelopmental disease
Alissa M. D'Gama et al.
NATURE NEUROSCIENCE (2018)
Glutamate, Glutamine and GABA Levels in Rat Brain Measured Using MRS, HPLC and NMR Methods in Study of Two Models of Autism
Elzbieta Zieminska et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
Dual mechanisms for the regulation of brain-derived neurotrophic factor by valproic acid in neural progenitor cells
Hyun Myung Ko et al.
KOREAN JOURNAL OF PHYSIOLOGY & PHARMACOLOGY (2018)
Excessive UBE3A dosage impairs retinoic acid signaling and synaptic plasticity in autism spectrum disorders
Xingxing Xu et al.
CELL RESEARCH (2018)
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons
Xiaozhuo Liu et al.
MOLECULAR NEUROBIOLOGY (2017)
Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects
H-J Kim et al.
MOLECULAR PSYCHIATRY (2017)
Sex differences in immune responses: Hormonal effects, antagonistic selection, and evolutionary consequences
Jacob Roved et al.
HORMONES AND BEHAVIOR (2017)
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
Yanmei Dou et al.
HUMAN MUTATION (2017)
Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects
Adrian Zhubi et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2017)
GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia
Naveen S. Khanzada et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/-catenin pathway by inhibiting the proteasome
Jason J. Yi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2017)
A Rare Variant Identified Within the GluN2B C-Terminus in a Patient with Autism Affects NMDA Receptor Surface Expression and Spine Density
Shuxi Liu et al.
JOURNAL OF NEUROSCIENCE (2017)
Environmental factors influencing the risk of autism
Padideh Karimi et al.
JOURNAL OF RESEARCH IN MEDICAL SCIENCES (2017)
What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis
Rachel Loomes et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2017)
Kctd13 deletion reduces synaptic transmission via increased RhoA
Christine Ochoa Escamilla et al.
NATURE (2017)
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A. F. Stessman et al.
NATURE GENETICS (2017)
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Elaine T. Lim et al.
NATURE NEUROSCIENCE (2017)
Analysis of LINE-1 Elements in DNA from Postmortem Brains of Individuals with Schizophrenia
Glenn A. Doyle et al.
NEUROPSYCHOPHARMACOLOGY (2017)
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder
Shan V. Andrews et al.
NATURE COMMUNICATIONS (2017)
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders
Joseph T. Glessner et al.
GENOME MEDICINE (2017)
Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development
Evie Stergiakouli et al.
MOLECULAR AUTISM (2017)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Richard J. L. Anney et al.
MOLECULAR AUTISM (2017)
Environmental risk factors for autism: an evidence-based review of systematic reviews and meta-analyses
Amirhossein Modabbernia et al.
MOLECULAR AUTISM (2017)
Increased signaling by the autism-related Engrailed-2 protein enhances dendritic branching and spine density, alters synaptic structural matching, and exaggerates protein synthesis
Asma Soltani et al.
PLOS ONE (2017)
Genomic Patterns of De Novo Mutation in Simplex Autism
Tychele N. Turner et al.
CELL (2017)
Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition
Erica Korb et al.
CELL (2017)
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Deidre R. Krupp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures
D. Stern et al.
CLINICAL GENETICS (2017)
Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes
Jacob J. Michaelson et al.
BIOLOGICAL PSYCHIATRY (2017)
Brain-Derived Neurotrophic Factor Levels in Autism: A Systematic Review and Meta-Analysis
Amene Saghazadeh et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2017)
Convergence of Sex Differences and the Neuroimmune System in Autism Spectrum Disorder
Margaret M. McCarthy et al.
BIOLOGICAL PSYCHIATRY (2017)
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability
F. Bonnet-Brilhault et al.
MOLECULAR PSYCHIATRY (2016)
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Tychele N. Turner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Histone Acetylome-wide Association Study of Autism Spectrum Disorder
Wenjie Sun et al.
CELL (2016)
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2
Zhen Liu et al.
NATURE (2016)
Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2
Ellen J. Hoffman et al.
NEURON (2016)
Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders
Donna M. Werling et al.
NATURE COMMUNICATIONS (2016)
Sex Biased Gene Expression Profiling of Human Brains at Major Developmental Stages
Lei Shi et al.
SCIENTIFIC REPORTS (2016)
Distinct Defects in Synaptic Differentiation of Neocortical Neurons in Response to Prenatal Valproate Exposure
Yoko Iijima et al.
SCIENTIFIC REPORTS (2016)
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder
Tara L. Wenger et al.
SCIENTIFIC REPORTS (2016)
Epigenetic Effect of Environmental Factors on Autism Spectrum Disorders
Takeo Kubota et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2016)
The Contribution of Mosaic Variants to Autism Spectrum Disorder
Donald Freed et al.
PLOS GENETICS (2016)
Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
Emily L. Casanova et al.
MOLECULAR AUTISM (2016)
The Interaction between the Immune System and Epigenetics in the Etiology of Autism Spectrum Disorders
Stefano Nardone et al.
FRONTIERS IN NEUROSCIENCE (2016)
MeCP2 Modulates Sex Differences in the Postsynaptic Development of the Valproate Animal Model of Autism
Ki Chan Kim et al.
MOLECULAR NEUROBIOLOGY (2016)
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Rocio Acuna-Hidalgo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Fetal DNA methylation of autism spectrum disorders candidate genes: association with spontaneous preterm birth
Fara Behnia et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2015)
Reduced prefrontal dopaminergic activity in valproic acid-treated mouse autism model
Yuta Hara et al.
BEHAVIOURAL BRAIN RESEARCH (2015)
Maternal viral infection during pregnancy impairs development of fetal serotonergic neurons
Takeshi Ohkawara et al.
BRAIN & DEVELOPMENT (2015)
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A
Jason J. Yi et al.
CELL (2015)
The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway
Joanna Pucilowska et al.
JOURNAL OF NEUROSCIENCE (2015)
Increased female autosomal burden of rare copy number variants in human populations and in autism families
G. Desachy et al.
MOLECULAR PSYCHIATRY (2015)
Immune mediators in the brain and peripheral tissues in autism spectrum disorder
Myka L. Estes et al.
NATURE REVIEWS NEUROSCIENCE (2015)
Abnormal instability, excess density, and aberrant morphology of dendritic spines in prenatally testosterone-exposed mice
Yusuke Hatanaka et al.
NEUROCHEMISTRY INTERNATIONAL (2015)
Microglia in the pathogenesis of autism spectrum disorders
Ryuta Koyama et al.
NEUROSCIENCE RESEARCH (2015)
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
Louisa Kalsner et al.
PEDIATRIC CLINICS OF NORTH AMERICA (2015)
Investigation of sex differences in the expression of RORA and its transcriptional targets in the brain as a potential contributor to the sex bias in autism
Valerie W. Hu et al.
MOLECULAR AUTISM (2015)
Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex
Michal Mor et al.
MOLECULAR AUTISM (2015)
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex
Magdalena E. Tyburczy et al.
HUMAN MOLECULAR GENETICS (2015)
Elevated fetal steroidogenic activity in autism
S. Baron-Cohen et al.
MOLECULAR PSYCHIATRY (2015)
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
A Higher Mutational Burden in Females Supports a Female Protective Model in Neurodevelopmental Disorders
Sebastien Jacquemont et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
Neil Risch et al.
AMERICAN JOURNAL OF PSYCHIATRY (2014)
Ube3a, the E3 ubiquitin ligase causing Angelman syndrome and linked to autism, regulates protein homeostasis through the proteasomal shuttle Rpn10
So Young Lee et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome
John Jacob et al.
DISEASE MODELS & MECHANISMS (2014)
The Familial Risk of Autism
Sven Sandin et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants
Joanna Martin et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2014)
Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits
C. C. Y. Wong et al.
MOLECULAR PSYCHIATRY (2014)
Common DNA methylation alterations in multiple brain regions in autism
C. Ladd-Acosta et al.
MOLECULAR PSYCHIATRY (2014)
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
S. E. McCarthy et al.
MOLECULAR PSYCHIATRY (2014)
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Hreinn Stefansson et al.
NATURE (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
The role of de novo mutations in the genetics of autism spectrum disorders
Michael Ronemus et al.
NATURE REVIEWS GENETICS (2014)
Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits
Guomei Tang et al.
NEURON (2014)
Chronic treatment with valproic acid or sodium butyrate attenuates novel object recognition deficits and hippocampal dendritic spine loss in a mouse model of autism
Kazuhiro Takuma et al.
PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR (2014)
MeCP2: multifaceted roles in gene regulation and neural development
Tian-Lin Cheng et al.
NEUROSCIENCE BULLETIN (2014)
Dysregulation of estrogen receptor beta (ERβ), aromatase (CYP19A1), and ER co-activators in the middle frontal gyrus of autism spectrum disorder subjects
Amanda Crider et al.
MOLECULAR AUTISM (2014)
Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins
Silvia Giovedi et al.
FRONTIERS IN PEDIATRICS (2014)
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
Santhosh Girirajan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH
M. Rio et al.
CLINICAL GENETICS (2013)
Sex differences in autism spectrum disorders
Donna M. Werling et al.
CURRENT OPINION IN NEUROLOGY (2013)
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
John C. K. Barber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid
Shunsuke Kataoka et al.
INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY (2013)
5-HT1A-receptor agonist modified amygdala activity and amygdala-associated social behavior in a valproate-induced rat autism model
Chao-Chuan Wang et al.
INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY (2013)
Microglia Are Essential to Masculinization of Brain and Behavior
Kathryn M. Lenz et al.
JOURNAL OF NEUROSCIENCE (2013)
Copy Number Variation: What Is It and What Has It Told Us About Child Psychiatric Disorders?
Anita Thapar et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2013)
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
Jordan W. Smoller et al.
LANCET (2013)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
S. Hong Lee et al.
NATURE GENETICS (2013)
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome
Kunio Miyake et al.
PLOS ONE (2013)
Examining and interpreting the female protective effect against autistic behavior
Elise B. Robinson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri et al.
SCIENCE (2013)
The Ubiquitin Receptor S5a/Rpn10 Links Centrosomal Proteasomes with Dendrite Development in the Mammalian Brain
Sidharth V. Puram et al.
CELL REPORTS (2013)
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders
Mark N. Ziats et al.
MOLECULAR AUTISM (2013)
Complex epigenetic regulation of Engrailed-2 (EN-2) homeobox gene in the autism cerebellum
S. J. James et al.
TRANSLATIONAL PSYCHIATRY (2013)
Channelopathy pathogenesis in autism spectrum disorders
Galina Schmunk et al.
Frontiers in Genetics (2013)
Family History of Schizophrenia and Bipolar Disorder as Risk Factors for Autism
Patrick F. Sullivan et al.
ARCHIVES OF GENERAL PSYCHIATRY (2012)
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes
Alicia Blaker-Lee et al.
DISEASE MODELS & MECHANISMS (2012)
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism
C. M. Durand et al.
MOLECULAR PSYCHIATRY (2012)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Christelle Golzio et al.
NATURE (2012)
Rate of de novo mutations and the importance of father's age to disease risk
Augustine Kong 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)
Activity-Dependent Growth of New Dendritic Spines Is Regulated by the Proteasome
Andrew M. Hamilton et al.
NEURON (2012)
Prenatal exposure to valproic acid increases the neural progenitor cell pool and induces macrocephaly in rat brain via a mechanism involving the GSK-3β/β-catenin pathway
Hyo Sang Go et al.
NEUROPHARMACOLOGY (2012)
Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Santhosh Girirajan et al.
NEW ENGLAND JOURNAL OF MEDICINE (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)
Investigation of modifier genes within copy number variations in Rett syndrome
Rosangela Artuso et al.
JOURNAL OF HUMAN GENETICS (2011)
A double hit implicates DIAPH3 as an autism risk gene
J. A. S. Vorstman et al.
MOLECULAR PSYCHIATRY (2011)
Sex-specific serum biomarker patterns in adults with Asperger's syndrome
E. Schwarz et al.
MOLECULAR PSYCHIATRY (2011)
Sex Hormones in Autism: Androgens and Estrogens Differentially and Reciprocally Regulate RORA, a Novel Candidate Gene for Autism
Tewarit Sarachana et al.
PLOS ONE (2011)
Testosterone administration impairs cognitive empathy in women depending on second-to-fourth digit ratio
Jack van Honka et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Guy Horev et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A
Guia Guffanti et al.
PSYCHIATRY RESEARCH (2011)
Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice
Stephen E. P. Smith et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Genetics of autism spectrum disorders
Daniel H. Geschwind
TRENDS IN COGNITIVE SCIENCES (2011)
Sibling Recurrence and the Genetic Epidemiology of Autism
John N. Constantino et al.
AMERICAN JOURNAL OF PSYCHIATRY (2010)
Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events
Wei Qin et al.
BRAIN PATHOLOGY (2010)
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Jeffrey J. Hutsler et al.
BRAIN RESEARCH (2010)
CHROMOSOME ABNORMALITIES IN INFANTILE AUTISM AND OTHER CHILDHOOD PSYCHOSES: A POPULATION STUDY OF 66 CASES
Christopher Gillberg et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder
Nanda N. J. Rommelse et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2010)
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Feng Li et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2010)
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain
AnhThu Nguyen et al.
FASEB JOURNAL (2010)
Clinical and genetic aspects of Angelman syndrome
Charles A. Williams et al.
GENETICS IN MEDICINE (2010)
Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?
Przemyslaw Szafranski et al.
HUMAN MUTATION (2010)
Identifying Loci for the Overlap Between Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Using a Genome-wide QTL Linkage Approach
Judith S. Nijmeijer et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Behavior and serotonergic disorders in rats exposed prenatally to valproate: A model for autism
Diane Dufour-Rainfray et al.
NEUROSCIENCE LETTERS (2010)
Fetal androgen exposure and pragmatic language ability of girls in middle childhood: Implications for the extreme male-brain theory of autism
Andrew J. O. Whitehouse et al.
PSYCHONEUROENDOCRINOLOGY (2010)
Perseverative responding and neuroanatomical alterations in adult heterozygous reeler mice are mitigated by neonatal estrogen administration
Simone Macri et al.
PSYCHONEUROENDOCRINOLOGY (2010)
Prenatal risk factors for autism: comprehensive meta-analysis
Hannah Gardener et al.
BRITISH JOURNAL OF PSYCHIATRY (2009)
Autism Spectrum Disorders and Childhood-Onset Schizophrenia: Clinical and Biological Contributions to a Relation Revisited
Judith Rapoport et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
PRENATAL EXPOSURE TO VALPROIC ACID LEADS TO REDUCED EXPRESSION OF SYNAPTIC ADHESION MOLECULE NEUROLIGIN 3 IN MICE
E. Kolozsi et al.
NEUROSCIENCE (2009)
Autism symptoms in Attention-Deficit/Hyperactivity Disorder: A Familial trait which Correlates with Conduct, Oppositional Defiant, Language and Motor Disorders
Aisling Mulligan et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2009)
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
Carl E. G. Bruder 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)
MECP2 Promoter Methylation and X Chromosome Inactivation in Autism
Raman P. Nagarajan et al.
AUTISM RESEARCH (2008)
Epilepsy in autism is associated with intellectual disability and gender: Evidence from a meta-analysis
Claire Amiet et al.
BIOLOGICAL PSYCHIATRY (2008)
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Dries Castermans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Evidence for overlapping genetic influences on autistic and ADHD behaviours in a community twin sample
Angelica Ronald et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2008)
Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
Hiroaki Kakinuma et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)
MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
Hsiao-Tuan Chao et al.
NEURON (2007)
Unexplained autism is frequently associated with low-level mosaic aneuploidy
Y. B. Yurov et al.
JOURNAL OF MEDICAL GENETICS (2007)
Autistic traits in a population-based ADHD twin sample
Angela M. Reiersen et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (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)
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
Marketa Havlovicova et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation
Raman P. Nagarajan et al.
EPIGENETICS (2006)
Induction of the homeotic gene Hoxa1 through valproic acid's teratogenic mechanism of action
Christopher J. Stodgell et al.
NEUROTOXICOLOGY AND TERATOLOGY (2006)
A case of partial trisomy of chromosome 8p associated with autism
Katerina Papanikolaou et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2006)
Sex differences in the brain: Implications for explaining autism
S Baron-Cohen et al.
SCIENCE (2005)
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
AD Rasalam et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2005)
Epigenetic overlap in autism-spectrum neurodevelopmental disorders:: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
RC Samaco et al.
HUMAN MOLECULAR GENETICS (2005)
Autism in Angelman syndrome: implications for autism research
SU Peters et al.
CLINICAL GENETICS (2004)
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
YH Jiang et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]
S Sauter et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Partial tetrasomy of chromosome 3q and mosaicism in a child with autism
G Oliveira et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2003)
Fine mapping of Autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
YJ Shao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Identification of MeCP2 mutations in a series of females with autistic disorder
RM Carney et al.
PEDIATRIC NEUROLOGY (2003)
Phenotype variation in two-locus mouse models of Hirschsprung disease:: Tissue-specific interaction between Ret and Ednrb
AS McCallion et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27
M Auranen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
P Stromme et al.
BRAIN & DEVELOPMENT (2002)
Reelin gene alleles and susceptibility to autism spectrum disorders
H Zhang et al.
MOLECULAR PSYCHIATRY (2002)
Absence of association between a polymorphic GGC repeat in the 5 ' untranslated region of the reelin gene and autism
MO Krebs et al.
MOLECULAR PSYCHIATRY (2002)
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
PF Bolton et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome:: diagnostic implications
V Bourdon et al.
JOURNAL OF MEDICAL GENETICS (2001)
A family with a grand-maternally derived interstitial duplication of proximal 15q
FZ Boyar et al.
CLINICAL GENETICS (2001)
A genomewide screen for autism susceptibility loci
JJ Liu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity
JD Buxbaum et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder
AM Persico et al.
MOLECULAR PSYCHIATRY (2001)
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
J Clayton-Smith et al.
LANCET (2000)
分享论文
