SynthesisJournal of autism and developmental disorders2015
Brief report: systematic review of Rett syndrome in males.
Synthesis in Journal of autism and developmental disorders, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
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Who cites it
32 citing papers in PubMed, 59 citations in OpenAlex.
- MECP2 mutations disrupt pluripotent stem cell fate through remodeling of the three-dimensional genome.Cell death & disease · 2026Article
- Mecp2 deficiency induces dysphagia in a preclinical model of Rett syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- MECP2 Rare Variants in Boys With Central Precocious Puberty.The Journal of clinical endocrinology and metabolism · 2026Article
- MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome.Epigenomics · 2025Review
- Article
- Parental age effects and Rett syndrome.American journal of medical genetics. Part A · 2024Article
- Sex Differences in Brain Disorders.International journal of molecular sciences · 2023Review
- Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome.International journal of molecular sciences · 2022Article
- Heterogeneity in Autism Spectrum Disorder Case-Finding Algorithms in United States Health Administrative Database Analyses.Journal of autism and developmental disorders · 2022Review
- Development and Psychometric Properties of the Multi-System Profile of Symptoms Scale in Patients with Rett Syndrome.Journal of clinical medicine · 2022Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Analysis of X-inactivation status in a Rett syndrome natural history study cohort.Molecular genetics & genomic medicine · 2022Article
- Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.Iranian journal of child neurology · 2022Article
- X-factors in human disease: impact of gene content and dosage regulation.Human molecular genetics · 2021Review
- Modeling Rett Syndrome with Human Pluripotent Stem Cells: Mechanistic Outcomes and Future Clinical Perspectives.International journal of molecular sciences · 2021Review
- Clinical presentation of Rett syndrome in relation to quality of life and family functioning.The Journal of international medical research · 2021Article
- Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease.Biomolecules · 2021Review
- Generation of cryopreserved macrophages from normal and genetically engineered human pluripotent stem cells for disease modelling.PloS one · 2021Article
- The Molecular Functions of MeCP2 in Rett Syndrome Pathology.Frontiers in genetics · 2021Review
- Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.Frontiers in neural circuits · 2021Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Rett syndrome (RTT) is a neurogenetic disorder in which a period of typical development is followed by loss of previously acquired skills. Once thought to occur exclusively in females, increasing numbers of male cases of RTT have been reported. This systematic review included 36 articles describing 57 cases of RTT in males. Mutations of the MECP2 gene were present in 56 % of cases, and 68 % of cases reported other genetic abnormalities. This is the first review of published reports of RTT in male patients.
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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.