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Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders
Betul Bakkaloglu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
Susan L. Christian et al.
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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)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A genome-wide association study of global gene expression
Anna L. Dixon et al.
NATURE GENETICS (2007)
Completing the map of human genetic variation
Evan E. Eichler et al.
NATURE (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)
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Jinong Feng et al.
NEUROSCIENCE LETTERS (2006)
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
M. C. Bonaglia et al.
JOURNAL OF MEDICAL GENETICS (2006)
Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)
Gillian Baird et al.
LANCET (2006)
An integrated system for genetic analysis
S Fiddy et al.
BMC BIOINFORMATICS (2006)
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection
F Blasi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2006)
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data
JE Wigginton et al.
BIOINFORMATICS (2005)
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
J Yan et al.
MOLECULAR PSYCHIATRY (2005)
Haploview: analysis and visualization of LD and haplotype maps
JC Barrett et al.
BIOINFORMATICS (2005)
Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects
HJ Cordell et al.
GENETIC EPIDEMIOLOGY (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)
Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum
MA Manning et al.
PEDIATRICS (2004)
Autism and pervasive developmental disorders
FR Volkmar et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2004)
The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
G Meyer et al.
NEUROPHARMACOLOGY (2004)
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
HL Wilson et al.
JOURNAL OF MEDICAL GENETICS (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
JP Schouten et al.
NUCLEIC ACIDS RESEARCH (2002)
FISH-mapping of a 100-kb terminal 22q13 deletion
BM Anderlid et al.
HUMAN GENETICS (2002)
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
GR Abecasis et al.
NATURE GENETICS (2002)
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
MC Bonaglia et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism
C Lord et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2000)