Behavioral phenotypes of genetic mouse models of autism
TM Kazdoba, PT Leach… - Genes, Brain and …, 2016 - Wiley Online Library
More than a hundred de novo single gene mutations and copy‐number variants have been
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
implicated in autism, each occurring in a small subset of cases. Mutant mouse models with …
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
Recent human genetic studies have consistently shown that mutations in the same gene or
same genomic region can increase the risk of a broad range of complex neuropsychiatric …
same genomic region can increase the risk of a broad range of complex neuropsychiatric …
[PDF][PDF] De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
Individuals with severe, sporadic disorders of infantile onset represent an important class of
disease for which discovery of the underlying genetic architecture is not amenable to …
disease for which discovery of the underlying genetic architecture is not amenable to …
Behavior genetics and postgenomics
E Charney - Behavioral and brain sciences, 2012 - cambridge.org
The science of genetics is undergoing a paradigm shift. Recent discoveries, including the
activity of retrotransposons, the extent of copy number variations, somatic and chromosomal …
activity of retrotransposons, the extent of copy number variations, somatic and chromosomal …
[HTML][HTML] Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control …
Background Several copy number variants (CNVs) are associated with a high risk of
neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to …
neurodevelopmental and psychiatric disorders (referred to as ND-CNVs). We aimed to …
Evolution of genetic and genomic features unique to the human lineage
Given the unprecedented tools that are now available for rapidly comparing genomes, the
identification and study of genetic and genomic changes that are unique to our species have …
identification and study of genetic and genomic changes that are unique to our species have …
[HTML][HTML] Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion
Summary 22q11. 2 microdeletions result in specific cognitive deficits and schizophrenia.
Analysis of Df (16) A+/− mice, which model this microdeletion, revealed abnormalities in the …
Analysis of Df (16) A+/− mice, which model this microdeletion, revealed abnormalities in the …
[图书][B] Diagnosing learning disorders: From science to practice
" Description: A definitive reference--now extensively revised with 70% new material--this
book presents cutting-edge knowledge on how learning disorders develop and how to …
book presents cutting-edge knowledge on how learning disorders develop and how to …
Cadherins and catenins in dendrite and synapse morphogenesis
E Seong, L Yuan, J Arikkath - Cell adhesion & migration, 2015 - Taylor & Francis
Neurons are highly polarized specialized cells. Neuronal integrity and functional roles are
critically dependent on dendritic architecture and synaptic structure, function and plasticity …
critically dependent on dendritic architecture and synaptic structure, function and plasticity …
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric
manifestations. Chromosomal regions 1q21. 1, 3q29, 15q11. 2, 15q13. 3, 16p11. 2, 16p13. 1 …
manifestations. Chromosomal regions 1q21. 1, 3q29, 15q11. 2, 15q13. 3, 16p11. 2, 16p13. 1 …