22q11. 2 deletion syndrome

DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

22q11. 2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
Recent studies are beginning to paint a clear and consistent picture of the impairments in
psychological and cognitive competencies that are associated with microdeletions in …

Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association

BS Marino, PH Lipkin, JW Newburger, G Peacock… - Circulation, 2012 - Am Heart Assoc
Background—The goal of this statement was to review the available literature on
surveillance, screening, evaluation, and management strategies and put forward a scientific …

[图书][B] Individual differences in arithmetic: Implications for psychology, neuroscience and education

A Dowker - 2019 - taylorfrancis.com
Arithmetic is still hugely important in many aspects of modern life, but our personal attitudes
to it differ greatly. Many people struggle with the basic principles of arithmetic, whilst others …

Psychosis and autism as diametrical disorders of the social brain

B Crespi, C Badcock - Behavioral and brain sciences, 2008 - cambridge.org
Autistic-spectrum conditions and psychotic-spectrum conditions (mainly schizophrenia,
bipolar disorder, and major depression) represent two major suites of disorders of human …

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

LK Paul - Journal of neurodevelopmental disorders, 2011 - Springer
This review provides an overview of the involvement of the corpus callosum (CC) in a variety
of developmental disorders that are currently defined exclusively by genetics …

The 22q11. 2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan

RK Jonas, CA Montojo, CE Bearden - Biological psychiatry, 2014 - Elsevier
Evidence is rapidly accumulating that rare, recurrent copy number variants represent large
effect risk factors for neuropsychiatric disorders. 22q11. 2 deletion syndrome (22q11DS) …

Molecular substrates of altered axonal growth and brain connectivity in a mouse model of schizophrenia

J Mukai, M Tamura, K Fénelon, AM Rosen… - Neuron, 2015 - cell.com
Summary 22q11. 2 deletion carriers show specific cognitive deficits, and∼ 30% of them
develop schizophrenia. One of the disrupted genes is ZDHHC8, which encodes for a …

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

JA Lee, JR Lupski - Neuron, 2006 - cell.com
Genomic disorders are a group of human genetic diseases caused by genomic
rearrangements resulting in copy-number variation (CNV) affecting a dosage-sensitive gene …

Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion

J Mukai, A Dhilla, LJ Drew, KL Stark, L Cao… - Nature …, 2008 - nature.com
Abstract Individuals with 22q11. 2 microdeletions have cognitive deficits and a high risk of
developing schizophrenia. Here we provide evidence that primary hippocampal neurons …