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。Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
Sandesh C. S. Nagamani et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Anath C. Lionel et al.
HUMAN MOLECULAR GENETICS (2013)
SHANK3 haploinsufficiency: a common but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders
Catalina Betancur et al.
MOLECULAR AUTISM (2013)
Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity
Carl Ernst et al.
ARCHIVES OF GENERAL PSYCHIATRY (2012)
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Dheeraj Malhotra et al.
CELL (2012)
Genetic architecture in autism spectrum disorder
Bernie Devlin et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
Jillian P. Casey et al.
HUMAN GENETICS (2012)
Altered Balance of Proteolytic Isoforms of Pro-Brain-Derived Neurotrophic Factor in Autism
Kristine L. P. Garcia et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2012)
Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
Mario Mastrangelo et al.
PEDIATRIC NEUROLOGY (2012)
Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients
Jacobine E. Buizer-Voskamp et al.
BIOLOGICAL PSYCHIATRY (2011)
Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16
Nicola H. Chapman et al.
HUMAN GENETICS (2011)
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
MARIA PICCIONE et al.
JOURNAL OF GENETICS (2011)
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
A. Piton et al.
MOLECULAR PSYCHIATRY (2011)
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
Dalila Pinto et al.
NATURE BIOTECHNOLOGY (2011)
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Dan Levy et al.
NEURON (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)
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
Anath C. Lionel et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Clinical and Molecular Characterization of Overlapping Interstitial Xp21-p22 Duplications in Two Unrelated Individuals
Laura Thorson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Rare Copy Number Variants A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia
Detelina Grozeva et al.
ARCHIVES OF GENERAL PSYCHIATRY (2010)
Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism
C. T. Correia et al.
GENES BRAIN AND BEHAVIOR (2010)
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Ruxandra Bachmann-Gagescu et al.
GENETICS IN MEDICINE (2010)
A genome-wide scan for common alleles affecting risk for autism
Richard Anney et al.
HUMAN MOLECULAR GENETICS (2010)
Large, rare chromosomal deletions associated with severe early-onset obesity
Elena G. Bochukova et al.
NATURE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Simone Berkel et al.
NATURE GENETICS (2010)
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
Abdul Noor et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Neuronal calcium sensors and synaptic plasticity
Mascia Amici et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2009)
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
D. T. Miller et al.
JOURNAL OF MEDICAL GENETICS (2009)
Kinesin Family Member 6 Variant Trp719Arg Does Not Associate With Angiographically Defined Coronary Artery Disease in the Ottawa Heart Genomics Study
Alexandre F. R. Stewart et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder
Abdul Noor 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)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
Bradley L. Griggs et al.
GENOMICS (2008)
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Amelie Piton et al.
HUMAN MOLECULAR GENETICS (2008)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN 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)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
Christelle M. Durand et al.
NATURE GENETICS (2007)
PopGen: Population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships
M Krawczak et al.
COMMUNITY GENETICS (2006)
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
EH Sherr
CURRENT OPINION IN PEDIATRICS (2003)
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
R Sultana et al.
GENOMICS (2002)
分享论文
