-
1
-
-
31144444162
-
Epidemiology of autistic disorder and other pervasive developmental disorders
-
Fombonne E. Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 2005;66:3-8.
-
(2005)
J Clin Psychiatry
, vol.66
, pp. 3-8
-
-
Fombonne, E.1
-
2
-
-
0004235298
-
-
American Psychiatric Association, 4th edn; DSM-IV, Washington, DC: American Psychiatric Association
-
American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders (4th edn; DSM-IV). Washington, DC: American Psychiatric Association.
-
(1994)
Diagnostic and statistical manual of mental disorders
-
-
-
3
-
-
33846969944
-
Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2002
-
February 9
-
Prevalence of Autism Spectrum Disorders - Autism and Developmental Disabilities Monitoring Network, 14 Sites, United States, 2002. MMWR February 9, 2007/56(SS01); 12-28.
-
(2007)
MMWR
, vol.SS01
, pp. 12-28
-
-
-
4
-
-
20244367771
-
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations
-
Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations. J Med Genet 2005;42:3318-3321.
-
(2005)
J Med Genet
, vol.42
, pp. 3318-3321
-
-
Butler, M.G.1
Dasouki, M.J.2
Zhou, X.P.3
-
5
-
-
34250812575
-
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
-
Part B
-
Buxbaum JD, Cai G, Chaste P, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet Part B 2007;144B:484-491.
-
(2007)
Am J Med Genet
, vol.144 B
, pp. 484-491
-
-
Buxbaum, J.D.1
Cai, G.2
Chaste, P.3
-
6
-
-
0036271629
-
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1
-
Li H, Yamagata T, Mori M, et al. Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J Hum Genet 2002;47:262-265.
-
(2002)
J Hum Genet
, vol.47
, pp. 262-265
-
-
Li, H.1
Yamagata, T.2
Mori, M.3
-
7
-
-
1542407036
-
Genotype and psychological phenotype in tuberous sclerosis (Letter)
-
Lewis JC, Thomas HV, Murphy KC, et al. Genotype and psychological phenotype in tuberous sclerosis (Letter). J Med Genet 2004;41:203-207.
-
(2004)
J Med Genet
, vol.41
, pp. 203-207
-
-
Lewis, J.C.1
Thomas, H.V.2
Murphy, K.C.3
-
8
-
-
34247364965
-
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
-
Part B
-
Zhou XL, Giacobini M, Anderlid BM, et al. Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD). Am J Med Genet Part B 2007; 144B:351-354.
-
(2007)
Am J Med Genet
, vol.144 B
, pp. 351-354
-
-
Zhou, X.L.1
Giacobini, M.2
Anderlid, B.M.3
-
9
-
-
34547731978
-
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
-
Epub May 21
-
Nishimura Y, Martin CL, Vazquez-Lopez A, et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet 2007;16:1682-1698. Epub 2007 May 21.
-
(2007)
Hum Mol Genet 2007
, vol.16
, pp. 1682-1698
-
-
Nishimura, Y.1
Martin, C.L.2
Vazquez-Lopez, A.3
-
10
-
-
0037371673
-
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
-
Shao Y, Cuccaro ML, Hauser ER, et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003;72:539-548.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 539-548
-
-
Shao, Y.1
Cuccaro, M.L.2
Hauser, E.R.3
-
11
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675.
-
(2008)
N Engl J Med
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
12
-
-
33845797961
-
The genetics of autistic disorders and its clinical relevance: A review of the literature
-
Freitag CM. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 2007;12: 2-22.
-
(2007)
Mol Psychiatry
, vol.12
, pp. 2-22
-
-
Freitag, C.M.1
-
13
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Autism Genome Project Consortium, Epub Feb 18
-
Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-328. Epub 2007 Feb 18.
-
(2007)
Nat Genet 2007
, vol.39
, pp. 319-328
-
-
-
14
-
-
33750346718
-
Evidence for genetic linkage of autism to chromosomes 7 and 4
-
Schellenberg GD, Dawson G, Sung YJ, et al. Evidence for genetic linkage of autism to chromosomes 7 and 4. Mol Psychiatry 2006; 11:1049-1060.
-
(2006)
Mol Psychiatry
, vol.11
, pp. 1049-1060
-
-
Schellenberg, G.D.1
Dawson, G.2
Sung, Y.J.3
-
15
-
-
0035138678
-
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
-
Parisi MA, Dinulos MB, Leppig KA, et al. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet 2001;38: 52-58.
-
(2001)
J Med Genet
, vol.38
, pp. 52-58
-
-
Parisi, M.A.1
Dinulos, M.B.2
Leppig, K.A.3
-
16
-
-
0032853452
-
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
-
Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-1472.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1461-1472
-
-
Marsh, D.J.1
Kum, J.B.2
Lunetta, K.L.3
-
17
-
-
0034701247
-
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemhypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis
-
Zhou XP, Marsh DJ, Hampel H, et al. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemhypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 2000; 9:765-768.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 765-768
-
-
Zhou, X.P.1
Marsh, D.J.2
Hampel, H.3
-
18
-
-
0242522403
-
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults
-
Epub Oct 17
-
Zhou XP, Marsh DJ, Morrison CD, et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 2003;73:1191-1198. Epub 2003 Oct 17.
-
(2003)
Am J Hum Genet 2003
, vol.73
, pp. 1191-1198
-
-
Zhou, X.P.1
Marsh, D.J.2
Morrison, C.D.3
-
19
-
-
34250877865
-
Genetic pathways to primary and secondary glioblastoma
-
Ohgaki H, Kleihues P. Genetic pathways to primary and secondary glioblastoma. Am J Pathol 2007;170:1445-1453.
-
(2007)
Am J Pathol
, vol.170
, pp. 1445-1453
-
-
Ohgaki, H.1
Kleihues, P.2
-
20
-
-
2942696404
-
Epigenetic and genetic alternation of PTEN in cervical neoplasm
-
Cheung TH, Lo KW, Yim SF, et al. Epigenetic and genetic alternation of PTEN in cervical neoplasm. Gynecol Oncol 2004; 93:621-627.
-
(2004)
Gynecol Oncol
, vol.93
, pp. 621-627
-
-
Cheung, T.H.1
Lo, K.W.2
Yim, S.F.3
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