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。Structural variation of chromosomes in autism spectrum disorder
Christian R. Marshall et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Disruption of neurexin 1 associated with autism spectrum disorder
Hyung-Goo Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
Alisa Nakamine et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
F. R. Zahir et al.
JOURNAL OF MEDICAL GENETICS (2008)
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2008)
Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome
Sophie van Rijn et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2008)
Abnormal melatonin synthesis in autism spectrum disorders
J. Melke et al.
MOLECULAR PSYCHIATRY (2008)
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
Jocelyn M. Bischof et al.
HUMAN MOLECULAR GENETICS (2007)
Is ASMT a susceptibility gene for autism spectrum disorders?: A replication study in European populations
C. Toma et al.
MOLECULAR PSYCHIATRY (2007)
The imprinted gene Magel2 regulates normal circadian output
Serguei V. Kozlov et al.
NATURE GENETICS (2007)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH:: Important role for increased gene dosage of XLMR genes
Guy Froyen et al.
HUMAN MUTATION (2007)
Autism spectrum disorder and Klinefelter syndrome
P. Jha et al.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY (2007)
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2007)
Autism, language delay and mental retardation in a patient with 7q11 duplication
C. Depienne et al.
JOURNAL OF MEDICAL GENETICS (2007)
COMT genotype and cognitive ability:: A longitudinal aging study
John M. Starr et al.
NEUROSCIENCE LETTERS (2007)
Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
SCIENCE (2007)
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
Lorraine Potocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region
Dorota A. Kwasnicka-Crawford et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2007)
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
Amber Hogart et al.
HUMAN MOLECULAR GENETICS (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
NATURE GENETICS (2007)
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism
Lisa Edelmann et al.
JOURNAL OF MEDICAL GENETICS (2007)
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
Jan Hellemans et al.
GENOME BIOLOGY (2007)
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions
Maria Kirchhoff et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Childhood autism and associated comorbidities
Dimitrios I. Zafeiriou et al.
BRAIN & DEVELOPMENT (2007)
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation
Laura Torres-Juan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont et al.
JOURNAL OF MEDICAL GENETICS (2006)
Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome
Ovsanna T. Leyfer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2006)
The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
Jacob A. S. Vorstman et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility
Lauren A. Weiss et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
ITGB3 shows genetic and expression interaction with SLC6A4
Lauren A. Weiss et al.
HUMAN GENETICS (2006)
Necdin promotes GABAergic neuron differentiation in cooperation with Dlx homeodomain proteins
Takaaki Kuwajima et al.
JOURNAL OF NEUROSCIENCE (2006)
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
CA Baron et al.
HUMAN MOLECULAR GENETICS (2006)
The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
A Battaglia
BRAIN & DEVELOPMENT (2005)
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
SE Fine et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2005)
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q 11.2 deletion syndrome in children
TJ Simon et al.
DEVELOPMENT AND PSYCHOPATHOLOGY (2005)
Microduplication and triplication of 22q11.2: A highly variable syndrome
TM Yobb et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
KS Reddy
BMC MEDICAL GENETICS (2005)
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
CMD Maranduba et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Chromosomal anomalies in individuals with autism - A strategy towards the identification of genes involved in autism
D Castermans et al.
AUTISM (2004)
MLPA and MAPH: New techniques for detection of gene deletions
LN Sellner et al.
HUMAN MUTATION (2004)
A comprehensive analysis of 22q11 gene expression in the developing and adult brain
TM Maynard et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
RE Ensenauer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
Prevalence of autism in a US metropolitan area
M Yeargin-Allsopp et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)
Disease susceptibility genes for autism
IN Bespalova et al.
ANNALS OF MEDICINE (2003)
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment
M Gomot et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Supernumerary marker chromosomes derived from chromosome 15:: analysis of 32 new cases
K Eggermann et al.
CLINICAL GENETICS (2002)
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
FE Abidi et al.
JOURNAL OF MEDICAL GENETICS (2002)
Mutation screening and transmission disequilibrium study of ATP10C in autism
SJ Kim et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Association between a GABRB3 polymorphism and autism
JD Buxbaum et al.
MOLECULAR PSYCHIATRY (2002)
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
MA Pujana et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Neuropsychiatric disorders in the 22q11 deletion syndrome
L Niklasson et al.
GENETICS IN MEDICINE (2001)
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R Zemni et al.
NATURE GENETICS (2000)