Over-Expression of Either MECP2_e1 or MECP2_e2 in Neuronally Differentiated Cells Results in Different Patterns of Gene Expression

Methyl CpG-binding Protein Isoform MeCP2_e2 Is Dispensable for Rett Syndrome Phenotypes but Essential for Embryo Viability and Placenta Development

(2012) Masayuki Itoh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isoform-Specific Toxicity of Mecp2 in Postmitotic Neurons: Suppression of Neurotoxicity by FoxG1

(2012) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

(2011) Peter J. Gianakopoulos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

(2011) Bredford Kerr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism

(2010) I Filges et al.   CLINICAL GENETICS

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

(2010) J. Nectoux et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

(2010) Peter J. Skene et al.   MOLECULAR CELL

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

(2010) Dalila Pinto et al.   NATURE

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

(2010) Hsiao-Tuan Chao et al.   NATURE

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome

(2009) Carol J. Saunders et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

(2009) C. Philippe et al.   JOURNAL OF MEDICAL GENETICS

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

MECP2 Isoform-Specific Vectors with Regulated Expression for Rett Syndrome Gene Therapy

(2009) Mojgan Rastegar et al.   PLoS One

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BioVenn – a web application for the comparison and visualization of biological lists using area-proportional Venn diagrams

(2008) Tim Hulsen et al.   BMC GENOMICS

MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products

(2008) Shinya Yakabe et al.   GENES & GENETIC SYSTEMS

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

(2008) Yann Fichou et al.   NEUROGENETICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

(2008) M. Chahrour et al.   SCIENCE

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

(2007) Bradley L. Griggs et al.   GENOMICS