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Epigenetics of autism spectrum disorders

Human molecular genetics, 2006-10, Vol.15 (suppl-2), p.R138-R150

SCHANEN, N. Carolyn

2006

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

Neurobiology of disease, 2010-05, Vol.38 (2), p.181-191

2010

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Rett syndrome: Revised diagnostic criteria and nomenclature

Annals of neurology, 2010-12, Vol.68 (6), p.944-950

2010

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Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

Human molecular genetics, 2007-07, Vol.16 (14), p.1682-1698

2007

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Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity

The EMBO journal, 2011-11, Vol.30 (22), p.4665-4677

2011

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The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Autism research, 2013-08, Vol.6 (4), p.268-279

2013

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Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

Human molecular genetics, 2014-05, Vol.23 (9), p.2447-2458

2014

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

Journal of neuropathology and experimental neurology, 2012-05, Vol.71 (5), p.382-397

2012

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Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

Journal of comparative neurology (1911), 2007-04, Vol.501 (4), p.526-542

2007

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Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders

PloS one, 2012-05, Vol.7 (5), p.e35414-e35414

2012

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Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes

Human molecular genetics, 2006-03, Vol.15 (6), p.853-869

2006

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Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

British journal of haematology, 2001-06, Vol.113 (4), p.866-870

2001

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Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Human molecular genetics, 2015-05, Vol.24 (9), p.2662-2672

2015

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Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Human molecular genetics, 2015-05, Vol.24 (9), p.2662-2672

2015

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Persistent TrkA Activity Is Necessary to Maintain Transcription in Neuronally Differentiated PC12 Cells

The Journal of biological chemistry, 2003-10, Vol.278 (44), p.42877-42885

2003

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Axonal Localization of transgene mRNA in mature PNS and CNS neurons

The Journal of neuroscience, 2011-10, Vol.31 (41), p.14481-14487

2011

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Nature genetics, 2004-04, Vol.36 (4), p.339-341

2004

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Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

Journal of cell science, 2008-04, Vol.121 (7), p.1128-1137

2008

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PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element‐dependent transcription in response to nerve growth factor and cAMP

Journal of neurochemistry, 2006-12, Vol.99 (6), p.1517-1530

2006

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High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

American journal of human genetics, 2004-08, Vol.75 (2), p.267-281

2004

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The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism

Acta neuropathologica communications, 2013-09, Vol.1 (1), p.61-61, Article 61

2013

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Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Molecular cytogenetics, 2009-12, Vol.2 (1), p.27-27, Article 27

2009

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Pathophysiological Mechanisms for Actions of the Neurotrophins

Brain pathology (Zurich, Switzerland), 2006-10, Vol.16 (4), p.320-332

2006

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Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications

Acta neuropathologica communications, 2015-10, Vol.3 (1), p.63-63, Article 63

2015

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Does Genotype Predict Phenotype in Rett Syndrome?

Journal of child neurology, 2005-09, Vol.20 (9), p.768-778

2005

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Epigenetics of autism spectrum disorders

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

Rett syndrome: Revised diagnostic criteria and nomenclature

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity

The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome

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

Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes

Congenital thrombocytopenia and radio‐ulnar synostosis: a new familial syndrome

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Persistent TrkA Activity Is Necessary to Maintain Transcription in Neuronally Differentiated PC12 Cells

Axonal Localization of transgene mRNA in mature PNS and CNS neurons

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

PC12 cells regulate inducible cyclic AMP (cAMP) element repressor expression to differentially control cAMP response element‐dependent transcription in response to nerve growth factor and cAMP

High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage

The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Pathophysiological Mechanisms for Actions of the Neurotrophins

Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications

Does Genotype Predict Phenotype in Rett Syndrome?

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