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。Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
Philip Awadalla et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
Ginevra Zanni et al.
NEUROGENETICS (2010)
Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation
Audrey Guilmatre et al.
ARCHIVES OF GENERAL PSYCHIATRY (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)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2009)
The genetic landscape of intellectual disability arising from chromosome X
Jozef Gecz et al.
TRENDS IN GENETICS (2009)
Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall 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)
Autism-associated familial microdeletion of Xp11.22
Y. Qiao et al.
CLINICAL GENETICS (2008)
XLMR genes: update 2007
Pietro Chiurazzi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Mutations in the calcium-related gene IL1RAPL1 are associated with autism
Amelie Piton et al.
HUMAN MOLECULAR GENETICS (2008)
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
S. S. Bhat et al.
CLINICAL GENETICS (2008)
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
I. Madrigal et al.
BMC GENOMICS (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)
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg et al.
JOURNAL OF MEDICAL GENETICS (2006)
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family
E Tabolacci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Analysis of four neuroligin genes as candidates for autism
T Ylisaukko-oja et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view
A Renieri et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2005)
Genetic linkage analysis of the X chromosome in autism, with emphasis on the fragile X region
JB Vincent et al.
PSYCHIATRIC GENETICS (2005)
Functional characterization of human RSK4, a new 90-kDa ribosomal S6 kinase, reveals constitutive activation in most cell types
BA Dümmler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
AUTOGSCAN: Powerful tools for automated genome-wide linkage and linkage disequilibrium analysis
T Hiekkalinna et al.
TWIN RESEARCH AND HUMAN GENETICS (2005)
X-linked mental retardation
HH Ropers et al.
NATURE REVIEWS GENETICS (2005)
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)
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
P Tarpey et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
A genomewide screen of 345 families for autism-susceptibility loci
AL Yonan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation
F Lepretre et al.
CYTOGENETIC AND GENOME RESEARCH (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)
Genomic screen and follow-up analysis for autistic disorder
YJ Shao et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
GR Abecasis et al.
NATURE GENETICS (2002)
IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system
MI Ferrante et al.
GENE (2001)
A genomewide screen for autism susceptibility loci
JJ Liu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation
H Jin et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
分享论文
