-
3
-
-
34250812575
-
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
-
5
-
-
84855958205
-
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
-
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
-
7
-
-
8844258243
-
Tuberous sclerosis
-
In: Howlin P, Udwin O, editors. Cambridge, UK: Cambridge University Press
-
de Vries PJ, Bolton PF. Tuberous sclerosis. In: Howlin P, Udwin O, editors. Outcomes in neurodevelopmental and genetic disorders. Cambridge, UK: Cambridge University Press. p 272-298.
-
Outcomes in neurodevelopmental and genetic disorders
, pp. 272-298
-
-
de Vries, P.J.1
Bolton, P.F.2
-
8
-
-
0033837083
-
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
-
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
-
11
-
-
13444302731
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
|