ReviewJournal of medical genetics2006
X linked mental retardation: a clinical guide.
Review in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Comprehensive evaluation of the child with intellectual disability or global developmental delays.Pediatrics · 2014Pooled it
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- Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity.Human molecular genetics · 2022Article
- Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset.Frontiers in aging neuroscience · 2022Article
- A novelThe Journal of international medical research · 2021Article
- The contribution of X-linked coding variation to severe developmental disorders.Nature communications · 2021Article
- X-linked mental retardation and severe short stature with a novel mutation of theClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2021Article
- Etiology of intellectual disability in individuals from special education schools in the south of Brazil.BMC pediatrics · 2020Article
- A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.Nucleic acids research · 2020Article
- Cell-Type-Specific Gene Inactivation andThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Wild mice with different social network sizes vary in brain gene expression.BMC genomics · 2020Article
- An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.European journal of human genetics : EJHG · 2020Review
- Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.Frontiers in synaptic neuroscience · 2020Review
- Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.Journal of molecular neuroscience : MN · 2019Article
- Identification and characterization of a missense mutation in theThe Journal of biological chemistry · 2017Article
- Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.Molecular neurobiology · 2017Article
- X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.Acta neuropathologica communications · 2016Article
- Number of X-chromosome genes influences social behavior and vasopressin gene expression in mice.Psychoneuroendocrinology · 2015Article
- Reversing synapse loss in Alzheimer's disease: Rho-guanosine triphosphatases and insights from other brain disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Review
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 at 1 institution in 1 country.
Funding
Abstract
Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome. Systematic screening of all other X linked genes in X linked families with mental retardation is currently not feasible in a clinical setting. The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis. Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised. Thirdly, the problem of recurrence risk where a molecular genetics diagnosis has not been made and what proportion of the male excess of mental retardation is due to monogenic disorders of the X chromosome are discussed.
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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.