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Träfflista för sökning "WFRF:(Gillberg Christopher) ;pers:(Coleman Mary)"

Sökning: WFRF:(Gillberg Christopher) > Coleman Mary

  • Resultat 1-10 av 14
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2.
  • Jamain, Stephane, et al. (författare)
  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
  • 2003
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 34:1, s. 27-29
  • Tidskriftsartikel (refereegranskat)abstract
    • Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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3.
  • Leblond, Claire S, et al. (författare)
  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
  • 2014
  • Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:9
  • Tidskriftsartikel (refereegranskat)abstract
    • SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
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4.
  • Scheid, Isabelle, et al. (författare)
  • Heterozygous FA2H mutations in autism spectrum disorders
  • 2013
  • Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 14
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD. Methods We searched deleterious mutations affecting FA2H, by genotyping 1256 independent patients with ASD genotyped using Genome Wide SNP arrays, and also by sequencing in independent set of 186 subjects with ASD and 353 controls. We then explored the impact of the identified mutations by measuring FA2H enzymatic activity and expression, in transfected COS7 cells. Results One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. Also, two rare non-synonymous mutations (R113W and R113Q) were reported. Although predictive models suggested that R113W should be a deleterious, we did not find that FA2H activity was affected by expression of the R113W mutation in cultured COS cells. Conclusions While our results do not support a major role for FA2H coding variants in ASD, a screening of other genes related to myelin synthesis would allow us to better understand the role of non-neuronal elements in ASD susceptibility.
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5.
  • Chaste, Pauline, et al. (författare)
  • Mutation screening of the ARX gene in patients with autism.
  • 2007
  • Ingår i: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:2, s. 228-230
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.
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  • Coleman, Mary, et al. (författare)
  • The Autisms
  • 2012
  • Bok (övrigt vetenskapligt/konstnärligt)
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9.
  • Gillberg, Christopher, 1950, et al. (författare)
  • Autism and medical disorders: a review of the literature.
  • 1996
  • Ingår i: Developmental Medicine and Child Neurology. - 0012-1622. ; 38:3, s. 191-202
  • Tidskriftsartikel (refereegranskat)abstract
    • The authors reviewed all the population studies on autism published in the English language with particular reference to the rate of medical disorders. Seven studies met criteria for inclusion in the survey. The mean of possibly autism-related medical disorders in persons with autism across these studies was 24.4%. There was a trend for higher rates of medical disorders among subjects with severe mental retardation. The evidence in respect of atypical autism was equivocal, and the overall prevalence of medical disorders in this group was similar to that found in typical autism.
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10.
  • Gillberg, Christopher, 1950, et al. (författare)
  • The Neurobiology of Autism
  • 2019
  • Ingår i: Autism and Pervasive Developmental Disorders, 3rd Ed. Fred R. Volkmar (red.). - Cambridge : Cambridge University Press. - 9781108297769 ; , s. 129-157
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)
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