Related references
Note: Only part of the references are listed.Abnormal Behavior in a Chromosome-Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism
Jin Nakatani et al.
CELL (2009)
Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
Sergey Nejentsev et al.
SCIENCE (2009)
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy
Miyabi Tanaka 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)
Transmission Disequilibrium, Testing of the Chromosome 15q11-q13 Region in Autism
Soo-Jeong Kim et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)
Autism Genetics: Strategies, Challenges, and Opportunities
Brian J. O'Roak et al.
AUTISM RESEARCH (2008)
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder
Timothy M. DeLorey et al.
BEHAVIOURAL BRAIN RESEARCH (2008)
Increased GAD67 mRNA expression in cerebellar interneurons in autism:: Implications for Purkinje cell dysfunction
Jane Yip et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2008)
Advances in autism genetics: on the threshold of a new neurobiology
Brett S. Abrahams et al.
NATURE REVIEWS GENETICS (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Contribution of SHANK3 mutations to autism spectrum disorder
Rainald Moessner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
PLINK: A tool set for whole-genome association and population-based linkage analyses
Shaun Purcell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The GABAA receptor α1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation
Martin J. Gallagher et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Decreased GAD67 mRNA levels in cerebellar purkinje cells in autism: pathophysiological implications
Jane Yip et al.
ACTA NEUROPATHOLOGICA (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)
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Jinong Feng et al.
NEUROSCIENCE LETTERS (2006)
Epigenetics of autism spectrum disorders
N. Carolyn Schanen
HUMAN MOLECULAR GENETICS (2006)
Combining information from multiple sources in the diagnosis of autism spectrum disorders
Susan Risi et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2006)
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
Lydia Urak et al.
HUMAN MOLECULAR GENETICS (2006)
An association analysis of candidate genes on chromosome 15 q11-13 and autism spectrum disorder
S. Curran et al.
MOLECULAR PSYCHIATRY (2006)
Genetic epidemiology 3 - Genetic association studies
HJ Cordell et al.
LANCET (2005)
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors
JS Sutcliffe et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Pervasive developmental disorders in preschool children: Confirmation of high prevalence
S Chakrabarti et al.
AMERICAN JOURNAL OF PSYCHIATRY (2005)
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
J Yan et al.
MOLECULAR PSYCHIATRY (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)
Gabrb3 gene deficient mice: A potential model of autism spectrum disorder
TM Delorey
GABA IN AUTISM AND RELATED DISORDERS (2005)
GABAergic cerebellar system in autism: A neuropathological and developmental perspective
GJ Blatt
GABA IN AUTISM AND RELATED DISORDERS (2005)
A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism
JL McCauley et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
The GABAA receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum
JQ Kang et al.
JOURNAL OF NEUROSCIENCE (2004)
Genetics of childhood disorders: XLVII. Autism, Part 6: Duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism
JS Sutcliffe et al.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2003)
Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices
SH Fatemi et al.
BIOLOGICAL PSYCHIATRY (2002)
Association between a GABRB3 polymorphism and autism
JD Buxbaum 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)
Density and distribution of hippocampal neurotransmitter receptors in autism: An autoradiographic study
GJ Blatt et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2001)
Share Paper
