메뉴 건너뛰기




Volumn 17, Issue 1, 2011, Pages 3-8

Genetic testing for autism spectrum disorders

Author keywords

Asperger syndrome; Autism; Autism spectrum disorders; Chromosomal microarray; Comparative genomic hybridization; Genetic etiology; Genetic testing; Karyotype; Pervasive developmental disorder

Indexed keywords

ARTICLE; AUTISM; COMMUNITY; COMORBIDITY; DIAGNOSTIC PROCEDURE; DISABILITY; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; GENETIC DISORDER; GENETIC SCREENING; HEALTH PRACTITIONER; HEREDITY; HUMAN; INBORN ERROR OF METABOLISM; PHENYLKETONURIA; PRIORITY JOURNAL; RETT SYNDROME; SYMPTOM; TUBEROUS SCLEROSIS;

EID: 84868250155     PISSN: 19405510     EISSN: 19405529     Source Type: Journal    
DOI: 10.1002/ddrr.131     Document Type: Article
Times cited : (13)

References (28)
  • 3
    • 34250812575 scopus 로고    scopus 로고
    • Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
    • Buxbaum JD, Cai G, Chaste P, et al. 2007. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet Part B 144B:484-491.
    • (2007) Am J Med Genet Part B , vol.144 B , pp. 484-491
    • Buxbaum, J.D.1    Cai, G.2    Chaste, P.3
  • 4
    • 45549104497 scopus 로고    scopus 로고
    • Autism spectrum disorders: clinical and research frontiers
    • Caronna EB, Milunsky JM, Tager-Flusberg H. 2008. Autism spectrum disorders: clinical and research frontiers. Arch Dis Child 93:581-523.
    • (2008) Arch Dis Child , vol.93 , pp. 581-523
    • Caronna, E.B.1    Milunsky, J.M.2    Tager-Flusberg, H.3
  • 5
    • 84855958205 scopus 로고    scopus 로고
    • mTOR: A pathogenic signaling pathway in developmental brain malformations
    • Crino PB. 2011. mTOR: A pathogenic signaling pathway in developmental brain malformations. Trends in Molecular Medicine 17:734-742.
    • (2011) Trends in Molecular Medicine , vol.17 , pp. 734-742
    • Crino, P.B.1
  • 6
    • 0023278607 scopus 로고
    • Sterling D. Garrard Memorial Symposium: Community health care services for adults with mental retardation
    • November 18, 1986, Auburn, Massachusetts
    • Crocker A. 1987. Sterling D. Garrard Memorial Symposium: Community health care services for adults with mental retardation. November 18, 1986, Auburn, Massachusetts. Ment Retard 25:237-238.
    • (1987) Ment Retard , vol.25 , pp. 237-238
    • Crocker, A.1
  • 8
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    • Filipek PA, Accardo PJ, Ashwal S, et al. 2000. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 55:468-479.
    • (2000) Neurology , vol.55 , pp. 468-479
    • Filipek, P.A.1    Accardo, P.J.2    Ashwal, S.3
  • 9
    • 0004166950 scopus 로고    scopus 로고
    • Fragile X syndrome
    • In: Howlin P, Udwin O, editors. Outcomes in neurodevelopmental and genetic disorders.Cambridge, UK: Cambridge University Press
    • Hagemann RJ, Hagemann PJ. 2002. Fragile X syndrome. In: Howlin P, Udwin O, editors. Outcomes in neurodevelopmental and genetic disorders.Cambridge, UK: Cambridge University Press. p 198-219.
    • (2002) , pp. 198-219
    • Hagemann, R.J.1    Hagemann, P.J.2
  • 10
    • 34249075469 scopus 로고    scopus 로고
    • Genetic testing in autism: how much is enough?
    • Herman GE, Henninger N, Ratliff-Schaub K, et al. 2007. Genetic testing in autism: how much is enough? Genet Med 9:268-274.
    • (2007) Genet Med , vol.9 , pp. 268-274
    • Herman, G.E.1    Henninger, N.2    Ratliff-Schaub, K.3
  • 11
    • 13444302731 scopus 로고    scopus 로고
    • Autistic disorders
    • In: Howlin P, Udwin O, editors. Cambridge, UK: Cambridge University Press.
    • Howlin P. 2002. Autistic disorders. In: Howlin P, Udwin O, editors. Outcomes in neurodevelopmental and genetic disorders. Cambridge, UK: Cambridge University Press. p 136-168.
    • (2002) Outcomes in neurodevelopmental and genetic disorders , pp. 136-168
    • Howlin, P.1
  • 12
    • 84862133738 scopus 로고    scopus 로고
    • Autism spectrum disorders
    • In: Batshaw ML, Pellegrino L, Roizen N, editors. ,6th ed. Baltimore, MD: Paul H. Brookes Publishing
    • Hyman SL, Towbin KE. 2007. Autism spectrum disorders. In: Batshaw ML, Pellegrino L, Roizen N, editors. Children with disabilities,6th ed. Baltimore, MD: Paul H. Brookes Publishing. p 325-344.
    • (2007) Children with disabilities , pp. 325-344
    • Hyman, S.L.1    Towbin, K.E.2
  • 14
    • 58549101513 scopus 로고    scopus 로고
    • Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
    • Lintas C, Persico AM. 2009. Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet 46:1-8.
    • (2009) J Med Genet , vol.46 , pp. 1-8
    • Lintas, C.1    Persico, A.M.2
  • 15
    • 78649635514 scopus 로고    scopus 로고
    • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • the Professional Practice Guidelines Committee
    • Manning M, Hudgins L, the Professional Practice Guidelines Committee. 2010. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 12:742-745.
    • (2010) Genet Med , vol.12 , pp. 742-745
    • Manning, M.1    Hudgins, L.2
  • 16
    • 82955235679 scopus 로고    scopus 로고
    • Evidence report: genetic and metabolic testing on children with global developmental delay: a report of the Quality Standards Committee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    • MichelsonDJ, ShevellMI, Sherr EH, et al. 2011. Evidence report: genetic and metabolic testing on children with global developmental delay: a report of the Quality Standards Committee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 77:1629-1635.
    • (2011) Neurology , vol.77 , pp. 1629-1635
    • Michelson, D.J.1    Shevell, M.I.2    Sherr, E.H.3
  • 17
    • 79955030459 scopus 로고    scopus 로고
    • Autism spectrum disorders
    • Miles JH. 2011. Autism spectrum disorders. Genet Med 13:278-294.
    • (2011) Genet Med , vol.13 , pp. 278-294
    • Miles, J.H.1
  • 18
    • 70350430194 scopus 로고    scopus 로고
    • Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population
    • Moss J, Howlin P. 2009. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 53:852-873.
    • (2009) J Intellect Disabil Res , vol.53 , pp. 852-873
    • Moss, J.1    Howlin, P.2
  • 20
    • 84868218795 scopus 로고    scopus 로고
    • Autism spectrum disorders
    • In: Voigt RG, Macias MM, Myers SM, editors. Developmental and behavioral pediatrics
    • Myers SM, Challman TD. 2011. Autism spectrum disorders. In: Voigt RG, Macias MM, Myers SM, editors. Developmental and behavioral pediatrics. USA: American Academy of Pediatrics. p 249-291.
    • (2011) USA: American Academy of Pediatrics , pp. 249-291
    • Myers, S.M.1    Challman, T.D.2
  • 21
    • 80052366179 scopus 로고    scopus 로고
    • Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium Study
    • Ozonoff S, Young GS, Carter A, et al. 2011. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium Study. Pediatrics 128:e488.
    • (2011) Pediatrics , vol.128
    • Ozonoff, S.1    Young, G.S.2    Carter, A.3
  • 22
    • 42149168524 scopus 로고    scopus 로고
    • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
    • the Professional Practice and Guidelines Committee
    • Schaefer GB, Mendelsohn NJ, the Professional Practice and Guidelines Committee. 2008. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med 10:301-305.
    • (2008) Genet Med , vol.10 , pp. 301-305
    • Schaefer, G.B.1    Mendelsohn, N.J.2
  • 23
    • 28644446258 scopus 로고    scopus 로고
    • American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
    • Shaffer LG. 2005. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 7:650-654.
    • (2005) Genet Med , vol.7 , pp. 650-654
    • Shaffer, L.G.1
  • 24
    • 77950564908 scopus 로고    scopus 로고
    • Clinical genetic testing for patients with autism spectrumdisorders
    • Shen Y, Dies KA, Holm IA, et al. 2010. Clinical genetic testing for patients with autism spectrumdisorders. Pediatrics 125:e727- e735.
    • (2010) Pediatrics , vol.125
    • Shen, Y.1    Dies, K.A.2    Holm, I.A.3
  • 25
    • 27644507366 scopus 로고    scopus 로고
    • Fragile X syndrome: diagnostic and carrier testing
    • Sherman S, Pletcher BA, Driscoll DA. 2004. Fragile X syndrome: diagnostic and carrier testing. Genet Med 7:584-587.
    • (2004) Genet Med , vol.7 , pp. 584-587
    • Sherman, S.1    Pletcher, B.A.2    Driscoll, D.A.3
  • 26
    • 62149104335 scopus 로고    scopus 로고
    • The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
    • Varga EA, Pastore M, Prior T, et al. 2009. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med 11:111-117.
    • (2009) Genet Med , vol.11 , pp. 111-117
    • Varga, E.A.1    Pastore, M.2    Prior, T.3
  • 27
    • 84868217371 scopus 로고    scopus 로고
    • Developmental and behavioral diagnoses: the spectrum and continuum of developmental-behavioral disorders
    • In: Voigt RG, Macias MM, Myers SM, editors. Developmental and behavioral pediatrics
    • Voigt RG. 2011. Developmental and behavioral diagnoses: the spectrum and continuum of developmental-behavioral disorders. In: Voigt RG, Macias MM, Myers SM, editors. Developmental and behavioral pediatrics. USA: American Academy of Pediatrics. p 121-145.
    • (2011) USA: American Academy of Pediatrics , pp. 121-145
    • Voigt, R.G.1
  • 28
    • 41849126341 scopus 로고    scopus 로고
    • The diagnosis of autism in a female: could it be Rett syndrome?
    • Young DJ, Bebbington A, Anderson A, et al. 2008. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr 167:661-669.
    • (2008) Eur J Pediatr , vol.167 , pp. 661-669
    • Young, D.J.1    Bebbington, A.2    Anderson, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.