The neurobiology of mouse models syntenic to human chromosome 15q

Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome

(2011) Melody Allensworth et al.   BMC GENETICS

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

(2010) Juliette Piard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The behavioral phenotype of the idic(15) syndrome

(2010) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Confirmed rare copy number variants implicate novel genes in schizophrenia

(2010) Gloria W.C. Tam et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A humanoid mouse model of autism

(2010) Toru Takumi   BRAIN & DEVELOPMENT

EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation

(2010) Seth S. Margolis et al.   CELL

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems

(2010) C. von der Lippe et al.   European Journal of Medical Genetics

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene

(2010) Fabienne Schaller et al.   HUMAN MOLECULAR GENETICS

Necdin Promotes Tangential Migration of Neocortical Interneurons from Basal Forebrain

(2010) T. Kuwajima et al.   JOURNAL OF NEUROSCIENCE

Angelman Syndrome, a Genomic Imprinting Disorder of the Brain

(2010) S. J. Chamberlain et al.   JOURNAL OF NEUROSCIENCE

 5GABAA Receptor Activity Sets the Threshold for Long-Term Potentiation and Constrains Hippocampus-Dependent Memory

(2010) L. J. Martin et al.   JOURNAL OF NEUROSCIENCE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13

(2010) Stormy J. Chamberlain et al.   NEUROBIOLOGY OF DISEASE

The Challenge of Translation in Social Neuroscience: A Review of Oxytocin, Vasopressin, and Affiliative Behavior

(2010) Thomas R. Insel   NEURON

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

(2010) Yong-hui Jiang et al.   PLoS One

Decreased Exploratory Activity in a Mouse Model of 15q Duplication Syndrome; Implications for Disturbance of Serotonin Signaling

(2010) Kota Tamada et al.   PLoS One

Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a

(2010) M. Sato et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

(2010) Stormy J. Chamberlain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution Analysis of Parent-of-Origin Allelic Expression in the Mouse Brain

(2010) C. Gregg et al.   SCIENCE

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Angelman syndrome (AS, MIM 105830)

(2009) Griet Van Buggenhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT2CR-mediated behaviour

(2009) Christine M. Doe et al.   HUMAN MOLECULAR GENETICS

The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders

(2009) Pat Levitt et al.   JOURNAL OF CLINICAL INVESTIGATION

Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse

(2009) Jeremy Veenstra-VanderWeele et al.   Journal of Neurodevelopmental Disorders

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

(2009) R J Delahanty et al.   MOLECULAR PSYCHIATRY

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

(2009) Simon Bekker-Jensen et al.   NATURE CELL BIOLOGY

Ube3a is required for experience-dependent maturation of the neocortex

(2009) Koji Yashiro et al.   NATURE NEUROSCIENCE

Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC

(2009) Amanda J. DuBose et al.   NEUROGENETICS

Loss of Magel2, a Candidate Gene for Features of Prader-Willi Syndrome, Impairs Reproductive Function in Mice

(2009) Rebecca E. Mercer et al.   PLoS One

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Prader–Willi syndrome

(2008) Suzanne B Cassidy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors

(2008) Detlef H. Heck et al.   HUMAN MOLECULAR GENETICS

Necdin Plays a Role in the Serotonergic Modulation of the Mouse Respiratory Network: Implication for Prader-Willi Syndrome

(2008) S. Zanella et al.   JOURNAL OF NEUROSCIENCE

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice

(2008) Feng Ding et al.   PLoS One

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

(2007) T DELOREY et al.   BEHAVIOURAL BRAIN RESEARCH