• <em>MECP2</em> duplication syndrome initially misdiagnosed as cerebral palsy: a case report
• <em>MECP2</em> duplication syndrome: The electroclinical features of a case with long-term evolution
• <em>MECP2</em>-Related Disorders in Males
• A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
• A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome
• A Comprehensive and Integrative Approach to MeCP2 Disease Transcriptomics
• A screen for MeCP2-TBL1 interaction inhibitors using a luminescence-based assay
• Abdominal compartment syndrome secondary to chronic constipation in MECP2 duplication syndrome
• Aberrant brain functional and structural developments in MECP2 duplication rats
• Abnormal Prefrontal Neural Oscillations are Associated with Social Deficits in MECP2 Duplication Syndrome
• Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives
• Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies
• An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
• An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
• Anesthetic Management for a Patient With MECP2 Duplication Syndrome: A Case Report
• Antisense oligonucleotide therapy in a humanized mouse model of <em>MECP2</em> duplication syndrome
• Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
• Assessing the Burden on Caregivers of MECP2 Duplication Syndrome
• Astrocytic Gap Junctions Contribute to Aberrant Neuronal Synchronization in a Mouse Model of MeCP2 Duplication Syndrome
• Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease
• Clinical phenotype and genetic analysis of MECP2 duplication syndrome
• Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study
• Comparison of evoked potentials across four related developmental encephalopathies
• Cortisol profiles and clinical severity in MECP2 duplication syndrome
• Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
• Development of an International Database for a Rare Genetic Disorder: The <em>MECP2</em> Duplication Database (MDBase)
• Diagnosis of MECP2 duplication in a child and prenatally
• Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay
• Differential Sensitivity of the Protein Translation Initiation Machinery and mTOR Signaling to <em>MECP2</em> Gain- and Loss-of-Function Involves MeCP2 Isoform-Specific Homeostasis in the Brain
• Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
• Dopey2 and Pcdh7 orchestrate the development of embryonic neural stem cells/ progenitors in zebrafish
• Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
• Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan
• Electroclinical Features in <em>MECP2</em> Duplication Syndrome: Pediatric Case Series
• Electroclinical Features in MECP2 Duplication Syndrome: Pediatric Case Series
• Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan
• Evoked Potentials and EEG Analysis in Rett Syndrome and Related Developmental Encephalopathies: Towards a Biomarker for Translational Research
• Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism
• Exploration of group II metabotropic glutamate receptor modulation in mouse models of Rett syndrome and MECP2 Duplication syndrome
• Exploring gastrointestinal health in MECP2 duplication syndrome
• Exploring the characteristics and most bothersome symptoms in MECP2 duplication syndrome to pave the path toward developing parent-oriented outcome measures
• Gene Editing and Rett Syndrome: Does It Make the Cut?
• Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
• Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
• Genetic analysis of a pedigree with MECP duplication syndrome
• Genetic analysis of a pedigree with MECP2 duplication syndrome in China
• Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome
• Hip Displacement in MECP2 Disorders: Prevalence and Risk Factors
• How Families Manage the Complex Medical Needs of Their Children with <em>MECP2</em> Duplication Syndrome
• How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
• Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability
• Identification and characterization of conserved noncoding <em>cis</em>-regulatory elements that impact <em>Mecp2</em> expression and neurological functions
• Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach
• Imbalance between hippocampal projection cell and parvalbumin interneuron architecture increases epileptic susceptibility in mouse model of methyl CpG binding protein 2 duplication syndrome
• Increased Reliability of Visually-Evoked Activity in Area V1 of the MECP2-Duplication Mouse Model of Autism
• Influence of the disordered domain structure of MeCP2 on its structural stability and dsDNA interaction
• Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism
• Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
• IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-kappaB-Induced Inflammation
• IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB-Induced Inflammation
• Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X-chromosome inactivation skewing
• MECP2 and the biology of MECP2 duplication syndrome
• MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα
• MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report
• MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution
• MeCP2 regulates <em>Gdf11</em>, a dosage-sensitive gene critical for neurological function
• MECP2-related disorders while gene-based therapies are on the horizon
• Medical Comorbidities in <em>MECP2</em> Duplication Syndrome: Results from the International <em>MECP2</em> Duplication Database
• Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database
• Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
• Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
• Moya moya vasculopathy and MECP2 duplication syndrome
• Multi-omics in MECP2 duplication syndrome patients and carriers
• Nodding syndrome: A role for environmental biotoxins that dysregulate MECP2 expression?
• Phenotypic features in MECP2 duplication syndrome: Effects of age
• POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet
• Profiling beneficial and potential adverse effects of MeCP2 overexpression in a hypomorphic Rett syndrome mouse model
• Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
• Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause
• Rett Syndrome and <em>MECP2</em> Duplication Syndrome: Disorders of MeCP2 Dosage
• Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
• Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome
• Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders
• Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
• Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature
• Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
• Stereotyped Upper Limb Movement in <em>MECP2</em> Duplication Syndrome
• Stereotyped Upper Limb Movement in <em>MECP2</em> Duplication Syndrome
• Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome
• Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome
• Surgery for foot deformities in MECP2 disorders: prevalence and risk factors
• Synthetic dosage-compensating miRNA circuits allow precision gene therapy for Rett syndrome
• Synthetic dosage-compensating miRNA circuits for quantitative gene therapy
• The <em>int22h1/int22h2</em>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
• The Efficacy of a Human-Ready mini<em>MECP2</em> Gene Therapy in a Pre-Clinical Model of Rett Syndrome
• Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study
• Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
• Tug-of-Peace: Visual Rivalry and Atypical Visual Motion Processing in MECP2 Duplication Syndrome of Autism
• Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
• Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology