Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Journal of Neuropathology and Experimental Neurology

• Publication date

  2012-05-01

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1097/NEN.0b013e318251f537PMID 22487857PMCID PMC3612833
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Opioid abuse in the United States and Department of Health and Human Services actions to address opioid-drug-related overdoses and deaths.

  2015cited by this paper
• Mullen Scales of Early Learning, AGS Edition, 1995

  2014cited by this paper
• Diagnostic and Statistical Manual of Mental Disorders

  2013cited by this paper
• Small people, big reasons: the need to focus on sudden unexpected death in children with epilepsy.

  2011cited by this paper
• Stanford-Binet Intelligence Scales, Fifth Edition

  2011cited by this paper
• Genetic heritability and shared environmental factors among twin pairs with autism.

  2011cited by this paper
• Neuron number and size in prefrontal cortex of children with autism.

  2011cited by this paper
• Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology

  2011cited by this paper
• The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

  2010cited by this paper
• Mortality in Autism: A Prospective Longitudinal Community-Based Study

  2010cited by this paper
• Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR)

  2010cited by this paper
• Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.

  2010cited by this paper
• Type, Topography, and Sequelae of Neuropathological Changes Shaping Clinical Phenotype of Autism

  2009cited by this paper
• MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

  2009cited by this paper
• Epileptogenesis in the immature brain: emerging mechanisms

  2009cited by this paper
• Sudden Death, Febrile Seizures, and Hippocampal and Temporal Lobe Maldevelopment in Toddlers: A New Entity

  2009cited by this paper
• Convulsing toward the pathophysiology of autism.

  2009cited by this paper
• Primary biliary cirrhosis

  2008cited by this paper
• Gilliam Autism Rating Scale

  2008cited by this paper
• Mullen Scales of Early Learning: Ags Edition

  2008cited by this paper
• Sudden Death in Toddlers Associated with Developmental Abnormalities of the Hippocampus: A Report of Five Cases

  2007cited by this paper
• 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

  2007cited by this paper
• Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11‐q13

  2006cited by this paper
• Use of the Mullen Scales of Early Learning for the Assessment of Young Children with Autism Spectrum Disorders

  2006cited by this paper
• Pervasive developmental disorders in preschool children: confirmation of high prevalence.

  2005cited by this paper
• Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.

  2005cited by this paper
• When is the brain enlarged in autism? A meta-analysis of all brain size reports.

  2005cited by this paper
• Sudden Unexpected Death in Childhood:A Report of 50 Cases

  2005cited by this paper
• Neuropathological observations in a case of autism presenting with self-injury behavior

  2004cited by this paper
• Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy

  2004cited by this paper
• Neuropathological findings in autism.

  2004cited by this paper
• Forty four probands with an additional “marker” chromosome

  2004cited by this paper
• Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders

  2004cited by this paper
• High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

  2004cited by this paper
• Evidence of brain overgrowth in the first year of life in autism.

  2003cited by this paper
• Epilepsy in autism.

  2002cited by this paper
• Association between a GABRB3 polymorphism and autism

  2002cited by this paper
• Paternal origin of a small, class I inv dup(15).

  2002cited by this paper
• Power spectrum analysis of heart rate variability in children with epilepsy

  2001cited by this paper
• Genetics of autism: complex aetiology for a heterogeneous disorder.

  2001cited by this paper
• Unusual brain growth patterns in early life in patients with autistic disorder

  2001cited by this paper
• Sudden unexplained death in children with epilepsy

  2001cited by this paper
• Association Analysis of Chromosome 15 GABAA Receptor Subunit Genes in Autistic Disorder

  2001cited by this paper
• The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

  2001cited by this paper
• Causes of Death in Autism

  2001cited by this paper
• Chromosome imbalances associated with epilepsy.

  2001cited by this paper
• Life expectancy of people with intellectual disability: a 35-year follow-up study.

  2000cited by this paper
• Three probands with autistic disorder and isodicentric chromosome 15.

  2000cited by this paper
• Genetic studies in autistic disorder and chromosome 15

  2000cited by this paper
• Oxygen Desaturations Triggered by Partial Seizures: Implications for Cardiopulmonary Instability in Epilepsy

  2000cited by this paper
• Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

  2000cited by this paper
• Autistic symptoms among children and young adults with isodicentric chromosome 15.

  2000cited by this paper
• Microcephaly and Macrocephaly in Autism

  1999cited by this paper
• Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

  1999cited by this paper
• Autism and maternally derived aberrations of chromosome 15q.

  1998influential reference
• A model system to study genomic imprinting of human genes.

  1998cited by this paper
• Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.

  1998cited by this paper
• Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study.

  1998cited by this paper
• Autistic symptoms among children and young adults with isodicentric chromosome 15.

  1998cited by this paper
• A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes

  1998cited by this paper
• Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

  1997cited by this paper
• The clinical assessment of attachment in children under five.

  1997cited by this paper
• Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer.

  1997cited by this paper
• Macrocephaly in children and adults with autism.

  1997cited by this paper
• Mullen Scales of Early Learning

  1997cited by this paper
• NEUROPATHOLOGICAL STUDY OF A CASE OF AUTISTIC SYNDROME WITH SEVERE MENTAL RETARDATION

  1996cited by this paper
• AUTISM AND MEDICAL DISORDERS: A REVIEW OF THE LITERATURE

  1996cited by this paper
• Longitudinal examination of the behavioral, language, and social changes in a population of adolescents and young adults with autistic disorder.

  1996cited by this paper
• Brief report: Neuroanatomic observations of the brain in pervasive developmental disorders

  1996cited by this paper
• The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

  1996cited by this paper
• Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.

  1996cited by this paper
• Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

  1996cited by this paper
• Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria

  1995cited by this paper
• Autism as a strongly genetic disorder: evidence from a British twin study

  1995cited by this paper
• Developmental dyslexia: four consecutive cases with cortical anomalies

  1995cited by this paper
• Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

  1995cited by this paper
• Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

  1994cited by this paper
• Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia

  1994cited by this paper
• Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

  1994cited by this paper
• Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

  1994cited by this paper
• Inv dup(15): contribution to the clinical definition of phenotype

  1994cited by this paper
• Inv dup(15) supernumerary marker chromosomes.

  1994cited by this paper
• Brief report: Duplication of chromosome 15q11-13 in two individuals with autistic disorder

  1994cited by this paper
• Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

  1993cited by this paper
• The contribution of neuropathologic studies to the understanding of autism.

  1993cited by this paper
• Silver Labeling of Alzheimer Neurofibrillary Changes and Brain β-Amyloid

  1993cited by this paper
• Autism associated with tetrasomy 15: A further report

  1993cited by this paper
• Magnetic resonance imaging in autism: measurement of the cerebellum, pons, and fourth ventricle.

  1992cited by this paper
• Autism associated with marker chromosome.

  1991cited by this paper
• Case Study: Autism Associated with Marker Chromosome

  1991cited by this paper
• Cardiac and Respiratory Correlations with Unit Discharge in Epileptic Human Temporal Lobe

  1990cited by this paper
• Quantitative cytoarchitectural studies of the cerebral cortex of schizophrenics.

  1986cited by this paper
• Developmental dyslexia: Four consecutive patients with cortical anomalies

  1985cited by this paper
• Sudden Unexpected Death Associated with Seizures: Analysis of 66 Cases

  1984cited by this paper
• Pathobiology of cortical neurons in metabolic and unclassified amentias.

  1979cited by this paper
• Cytogenetic and clinical studies in five cases of inv dup(15)

  1979cited by this paper
• Pathobiology of cortical neurons in metabolic and unclassified amentias.

  1979cited by this paper

• Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome.

  2025cites this paper
• Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

  2025cites this paper
• Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndrome.

  2025cites this paper
• Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder

  2024cites this paper
• Focal granule cell bilamination of the dentate gyrus—its prevalence across the human age spectrum and review of the literature

  2024cites this paper
• Dentate Gyrus Morphogenesis is Regulated by an Autism Risk Gene Trio Function in Granule Cells

  2024cites this paper
• Intraneuronal accumulation of amyloid-β peptides as the pathomechanism linking autism and its co-morbidities: epilepsy and self-injurious behavior — the hypothesis

  2023cites this paper
• Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.

  2023cites this paper
• Genetics and SUDEP: Challenges and Future Directions.

  2023cites this paper
• The expansion of newborn neurons in hippocampus improves social recognition deficit in a mouse model of autism

  2023influential citation
• Auts2 deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms

  2022cites this paper
• Molecular and behavioral consequences of Ube3a gene overdosage in mice

  2022cites this paper
• Case Report: Autism Risk Within the Context of Two Chromosome 15 Syndromes

  2022cites this paper
• Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants

  2021cites this paper
• Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

  2021cites this paper
• Functional and Neuropathological Evidence for a Role of the Brainstem in Autism

  2021cites this paper
• A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study

  2021cites this paper
• Maternal 15q Duplication Syndrome

  2021cites this paper
• Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome

  2021cites this paper
• Epilepsy in patients with focal cortical dysplasia may be associated with autism spectrum disorder.

  2021cites this paper
• Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.

  2021cites this paper
• INVERTED DUPLICATED CHROMOSOME 15 SYNDROME (ISODICENTRIC 15)

  2021cites this paper
• The Natural History of Epilepsy

  2020cites this paper
• Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy.

  2020cites this paper
• Relationships among gastrointestinal symptoms, sleep problems, challenging behaviour, comorbid psychopathology and autism spectrum disorder symptoms in children and adolescents with 15q duplication syndrome.

  2020cites this paper
• Mortality and Morbidity of Medication-Resistant Epilepsy

  2020cites this paper
• The Economic Impact of Medication-Resistant Epilepsy

  2020cites this paper
• Autoimmune Causes of Medication-Resistant Epilepsy

  2020cites this paper
• Hippocampal Sclerosis as a Cause of Medication-Resistant Epilepsy

  2020cites this paper
• Medication-Resistant Epilepsy Syndromes in Children

  2020cites this paper
• International League Against Epilepsy’s Definition of Medication-Resistant Epilepsy

  2020cites this paper
• Reproductive Health for Women with Medication-Resistant Epilepsy

  2020cites this paper
• Diet Therapy for Medication-Resistant Epilepsy

  2020cites this paper
• Genetic Causes of Medication-Resistant Epilepsy

  2020cites this paper
• Ablative Surgery for Medication-Resistant Epilepsy

  2020cites this paper
• Neurobiology of Medication-Resistant Epilepsy

  2020cites this paper
• Medication-Resistant Epilepsy in Adults

  2020cites this paper
• Pharmacotherapy for Medication-Resistant Epilepsy

  2020cites this paper
• Botanical Treatments for Medication-Resistant Epilepsy

  2020cites this paper
• Challenges in Identifying Medication-Resistant Epilepsy

  2020cites this paper
• Approach to the Treatment of Medication-Resistant Epilepsy

  2020cites this paper
• Social Consequences of Medication-Resistant Epilepsy

  2020cites this paper
• Malformations of Cortical Development as Causes of Medication-Resistant Epilepsy

  2020cites this paper
• Resective Surgery for Medication-Resistant Epilepsy

  2020cites this paper
• Psychiatric Comorbidities in Medication-Resistant Epilepsy

  2020cites this paper
• Models for Medication-Resistant Epilepsy

  2020cites this paper
• Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome

  2019cites this paper
• Increased densities of white matter neurons as a cross‐disease feature of neuropsychiatric disorders

  2019cites this paper
• Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays

  2019cites this paper
• Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia‐Related Genes

  2019influential citation
• Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models

  2018cites this paper
• The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2‐q13)

  2018cites this paper
• Review: The past, present and future challenges in epilepsy‐related and sudden deaths and biobanking

  2018cites this paper
• Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

  2018cites this paper
• Primary olfactory cortex in autism and epilepsy: increased glial cells in autism

  2017cites this paper
• Partial Agenesis and Hypoplasia of the Corpus Callosum in Idiopathic Autism

  2017cites this paper
• Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα.

  2017cites this paper
• 15q Duplication Syndrome and Related Disorders

  2016cites this paper
• Parental-reported pain insensitivity in Dup15q.

  2016cites this paper
• Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention.

  2016cites this paper
• The emerging picture of autism spectrum disorder: genetics and pathology.

  2015cites this paper
• Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes

  2015cites this paper
• Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder

  2015cites this paper
• Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism

  2015cites this paper
• Structural MRI biomarkers of shared pathogenesis in autism spectrum disorder and epilepsy.

  2015influential citation
• Organization of the human superior olivary complex in 15q duplication syndromes and autism spectrum disorders.

  2015cites this paper
• Subtelomeric aberrations in Thai patients with idiopathic mental retardation and autism detected by multiplex ligation-dependent probe amplification

  2015cites this paper
• Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications

  2015influential citation
• Neuroanatomical Phenotypes Are Consistent With Autism‐Like Behavioral Phenotypes in the 15q11‐13 Duplication Mouse Model

  2015influential citation
• Neuronal nucleus and cytoplasm volume deficit in children with autism and volume increase in adolescents and adults

  2015cites this paper
• Stereological study of the neuronal number and volume of 38 brain subdivisions of subjects diagnosed with autism reveals significant alterations restricted to the striatum, amygdala and cerebellum

  2014cites this paper
• Delayed Development of the Claustrum in Autism

  2014cites this paper
• A quantitative framework to evaluate modeling of cortical development by neural stem cells.

  2014cites this paper
• A survey of seizures and current treatments in 15q duplication syndrome

  2014cites this paper
• Clinicopathological Stratification of Idiopathic Autism and Autism with 15q11.2–q13 Duplications

  2013cites this paper
• Polymicrogyria‐associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project

  2013cites this paper
• Magnetoencephalography and neuropathological studies of autism spectrum disorders and the comorbidity with epilepsy

  2013cites this paper
• Co-expression Profiling of Autism Genes in the Mouse Brain

  2013cites this paper
• Contribution of olivofloccular circuitry developmental defects to atypical gaze in autism.

  2013influential citation
• Advances in Autism Research – The Genomic Basis of ASD

  2013cites this paper
• Recent advances in neuroimaging in autism

  2012cites this paper
• Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders

  2012cites this paper