X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  American Journal of Human Genetics

• Publication date

  2004-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/382137PMID 14963808PMCID PMC1182268
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Monogenic causes of X-linked mental retardation].

  2006cited by this paper
• Epidemiological Surveys of Autism and Other Pervasive Developmental Disorders: An Update

  2003cited by this paper
• Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

  2003influential reference
• Neurexin mediates the assembly of presynaptic terminals

  2003cited by this paper
• Clinical and molecular contributions to the understanding of X-linked mental retardation

  2003influential reference
• Epidemiological trends in rates of autism

  2002cited by this paper
• Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

  2002cited by this paper
• ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

  2002cited by this paper
• Hypersensitivity to acoustic change in children with autism: electrophysiological evidence of left frontal cortex dysfunctioning.

  2002cited by this paper
• A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.

  2002cited by this paper
• XLMR genes: update 2000

  2001cited by this paper
• Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression.

  2001influential reference
• Monogenic causes of X-linked mental retardation

  2001cited by this paper
• A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

  2000cited by this paper
• Neuroligation: building synapses around the neurexin–neuroligin link

  2000cited by this paper
• Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons.

  2000cited by this paper
• A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

  1999cited by this paper
• A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

  1999influential reference
• A genomic screen of autism: evidence for a multilocus etiology.

  1999cited by this paper
• Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study.

  1999cited by this paper
• Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses.

  1999cited by this paper
• Genome-Wide Scan for Autism Susceptibility Genes

  1999influential reference
• Xp deletions associated with autism in three females

  1999influential reference
• Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).

  1997cited by this paper
• Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

  1994cited by this paper
• Vineland Adaptive Behavior Scales: Classroom Edition

  1986cited by this paper
• Nonspecific X-linked mental retardation II: the frequency in British Columbia.

  1980influential reference
• diagnostic and statistical manual of mental disorders,

  year unknowncited by this paper

• Metal Dyshomeostasis as a Driver of Gut Pathology in Autism Spectrum Disorders

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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020influential citation
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper