ArticleMolecular syndromology2012
MECP2 Duplication Syndrome.
Article in Molecular syndromology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 78 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Biobanking of Rett Syndrome and Related Disorders Protocol
Rett Syndrome, MECP2 Duplication Disorder, and Rett- Related Disorders Natural History Protocol
Who cites it
78 citing papers in PubMed.
- MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes.Nature communications · 2026Article
- Developmental modulation of schizophrenia risk gene methylation in offspring exhibiting cognitive deficits following maternal immune activation.Molecular psychiatry · 2026Article
- Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report.Frontiers in psychiatry · 2026Article
- Exploring the complexity of MECP2 function in Rett syndrome.Nature reviews. Neuroscience · 2025Review
- Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex.Genes · 2024Review
- Activation of recombinases at specific DNA loci by zinc-finger domain insertions.Nature biotechnology · 2024Article
- Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.Human molecular genetics · 2024Article
- Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA.Nature structural & molecular biology · 2024Article
- Genetic analysis of a pedigree with MECP2 duplication syndrome in China.BMC medical genomics · 2024Article
- MECP2-related disorders while gene-based therapies are on the horizon.Frontiers in genetics · 2024Review
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Novel MECP2 gene therapy is effective in a multicenter study using two mouse models of Rett syndrome and is safe in non-human primates.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- How Families Manage the Complex Medical Needs of Their Children withChildren (Basel, Switzerland) · 2023Article
- A screen for MeCP2-TBL1 interaction inhibitors using a luminescence-based assay.Scientific reports · 2023Article
- Article
- Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.Children (Basel, Switzerland) · 2023Review
- Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.International journal of molecular sciences · 2023Review
- Haploinsufficiency of Shank3 increases the orientation selectivity of V1 neurons.Scientific reports · 2022Article
- Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.International journal of molecular sciences · 2022Review
- Medical Comorbidities inChildren (Basel, Switzerland) · 2022Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.