Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

@article{Cohen2005SpecificGD,
  title={Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification},
  author={D. Cohen and Nad{\`e}ge Pichard and S. Tordjman and C. Baumann and L. Burglen and E. Excoffier and G. Lazar and P. Mazet and C. Pinquier and A. Verloes and D. Heron},
  journal={Journal of Autism and Developmental Disorders},
  year={2005},
  volume={35},
  pages={103-116}
}
  • D. Cohen, Nadège Pichard, +8 authors D. Heron
  • Published 2005
  • Medicine
  • Journal of Autism and Developmental Disorders
  • Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith–Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith–Lemli–Opitz syndrome) and proposes a consensual and economic diagnostic strategy… CONTINUE READING
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    References

    SHOWING 1-10 OF 101 REFERENCES
    Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.
    • 65
    Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.
    • 56
    • PDF
    X chromosome and infantile autism
    • 28
    The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
    • 189
    Autism in Angelman syndrome: a population-based study.
    • 225
    Deletion of Chromosome 2 q37 and Autism: A Distinct Subtype?
    • 59
    • PDF
    Mental retardation: genetic findings, clinical implications and research agenda.
    • 59
    Autism, mental retardation, and chromosomal abnormalities
    • 55
    Autism and maternally derived aberrations of chromosome 15q.
    • 357
    • Highly Influential
    • PDF