-
1
-
-
78349293844
-
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood
-
Lichtenstein P, Carlstrom E, Rastam M, et al. The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry 2010; 167:1357-1363.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1357-1363
-
-
Lichtenstein, P.1
Carlstrom, E.2
Rastam, M.3
-
2
-
-
0028906338
-
Autism as a strongly genetic disorder: Evidence from a british twin study
-
Bailey A, Le Couteur A, Gottesman I, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25:63-77.
-
(1995)
Psychol Med
, vol.25
, pp. 63-77
-
-
Bailey, A.1
Le Couteur, A.2
Gottesman, I.3
-
3
-
-
42649096881
-
Autism genetics: Strategies, challenges, and opportunities
-
O'Roak BJ, State MW. Autism genetics: strategies, challenges, and opportunities. Autism Res 2008; 1:4-17.
-
(2008)
Autism Res
, vol.1
, pp. 4-17
-
-
O'Roak, B.J.1
State, M.W.2
-
4
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466:368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
-
5
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459:528-533.
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
-
6
-
-
77950899212
-
Connecting genes to brain in the autism spectrum disorders
-
Abrahams BS, Geschwind DH. Connecting genes to brain in the autism spectrum disorders. Arch Neurol 2010; 67:395-399.
-
(2010)
Arch Neurol
, vol.67
, pp. 395-399
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
7
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
-
Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011; 1380:42-77.
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
8
-
-
77049120173
-
The genetics of autism: Key issues, recent findings, and clinical implications
-
El-Fishawy P, State MW. The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr Clin North Am 2010; 33:83-105.
-
(2010)
Psychiatr Clin North Am
, vol.33
, pp. 83-105
-
-
El-Fishawy, P.1
State, M.W.2
-
9
-
-
73649115644
-
Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
-
Nishiyama T, Notohara M, Sumi S, et al. Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families. J Hum Genet 2009; 54:721-726.
-
(2009)
J Hum Genet
, vol.54
, pp. 721-726
-
-
Nishiyama, T.1
Notohara, M.2
Sumi, S.3
-
10
-
-
0035451780
-
On the allelic spectrum of human disease
-
DOI 10.1016/S0168-9525(01)02410-6, PII S0168952501024106
-
Reich DE, Lander ES. On the allelic spectrum of human disease. Trends Genet 2001; 17:502-510. (Pubitemid 32763048)
-
(2001)
Trends in Genetics
, vol.17
, Issue.9
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
11
-
-
36549036104
-
The genetic basis of complex traits: Rare variants or "common gene, common disease"?
-
DOI 10.1385/1-59745-389-7:71, Linkage Disequilibrium and Association Mapping: Analysis and Applications
-
Iyengar SK, Elston RC. The genetic basis of complex traits: rare variants or 'common gene, common disease'? Methods Mol Biol 2007; 376:71-84. (Pubitemid 350189861)
-
(2007)
Methods in Molecular Biology
, vol.376
, pp. 71-84
-
-
Iyengar, S.K.1
Elston, R.C.2
-
12
-
-
77950864908
-
Genetics of autistic disorders: Review and clinical implications
-
Freitag CM, Staal W, Klauck SM, et al. Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 2010; 19:169-178.
-
(2010)
Eur Child Adolesc Psychiatry
, vol.19
, pp. 169-178
-
-
Freitag, C.M.1
Staal, W.2
Klauck, S.M.3
-
13
-
-
77349112962
-
Ade novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
-
Kumar RA, Sudi J, Babatz TD, et al. Ade novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 2010; 47:81-90.
-
(2010)
J Med Genet
, vol.47
, pp. 81-90
-
-
Kumar, R.A.1
Sudi, J.2
Babatz, T.D.3
-
14
-
-
38749096303
-
A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism
-
DOI 10.1016/j.ajhg.2007.09.015, PII S0002929707000213
-
Arking DE, Cutler DJ, Brune CW, et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82:160-164. (Pubitemid 351726090)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 160-164
-
-
Arking, D.E.1
Cutler, D.J.2
Brune, C.W.3
Teslovich, T.M.4
West, K.5
Ikeda, M.6
Rea, A.7
Guy, M.8
Lin, S.9
Cook Jr., E.H.10
Chakravarti, A.11
-
15
-
-
73449085814
-
Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder
-
Freitag CM, Agelopoulos K, Huy E, et al. Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Eur Child Adolesc Psychiatry 2010; 19:67-74.
-
(2010)
Eur Child Adolesc Psychiatry
, vol.19
, pp. 67-74
-
-
Freitag, C.M.1
Agelopoulos, K.2
Huy, E.3
-
16
-
-
38749140677
-
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
-
DOI 10.1016/j.ajhg.2007.09.005, PII S0002929707000110
-
Alarcon M, Abrahams BS, Stone JL, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82:150-159. (Pubitemid 351726082)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 150-159
-
-
Alarcon, M.1
Abrahams, B.S.2
Stone, J.L.3
Duvall, J.A.4
Perederiy, J.V.5
Bomar, J.M.6
Sebat, J.7
Wigler, M.8
Martin, C.L.9
Ledbetter, D.H.10
Nelson, S.F.11
Cantor, R.M.12
Geschwind, D.H.13
-
17
-
-
70449724778
-
Copy-number variants in neurodevelopmental disorders: Promises and challenges
-
Merikangas AK, Corvin AP, Gallagher L. Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet 2009; 25:536-544.
-
(2009)
Trends Genet
, vol.25
, pp. 536-544
-
-
Merikangas, A.K.1
Corvin, A.P.2
Gallagher, L.3
-
18
-
-
77951702343
-
Genetic heterogeneity in human disease
-
McClellan J, King MC. Genetic heterogeneity in human disease. Cell 2010; 141:210-217.
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.C.2
-
19
-
-
77956374607
-
A common allele in the oxytocin receptor gene (OXTR) impacts prosocial temperament and human hypothalamic-limbic structure and function
-
Tost H, Kolachana B, Hakimi S, et al. A common allele in the oxytocin receptor gene (OXTR) impacts prosocial temperament and human hypothalamic-limbic structure and function. Proc Natl Acad Sci USA 2010; 107: 13936-13941.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 13936-13941
-
-
Tost, H.1
Kolachana, B.2
Hakimi, S.3
-
20
-
-
79952069900
-
The genetics of neurodevelopmental disease
-
Mitchell KJ. The genetics of neurodevelopmental disease. Curr Opin Neuro- biol 2011; 21:197-203.
-
(2011)
Curr Opin Neuro- Biol
, vol.21
, pp. 197-203
-
-
Mitchell, K.J.1
-
21
-
-
77049084500
-
ASHG 2008 annual meeting: From enormous cohorts to individual genomes
-
Feuk L ASHG 2008 Annual Meeting: from enormous cohorts to individual genomes. Genome Med 2009; 1:9.
-
(2009)
Genome Med
, vol.1
, pp. 9
-
-
Feuk, L.1
-
22
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss LA, Arking DE, Daly MJ, Chakravarti A. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461:802-808.
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
23
-
-
77957735529
-
A genome-wide scan for common alleles affecting risk for autism
-
Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19:4072-4082.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
-
25
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med 2010; 363:166-176.
-
(2010)
N Engl J Med
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
26
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
DOI 10.1038/ng1136
-
Jamain S, Quach H, Betancur C, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34:27-29. (Pubitemid 36548785)
-
(2003)
Nature Genetics
, vol.34
, Issue.1
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
Bourgeron, T.11
Nyden, A.12
Philippe, A.13
Cohen, D.14
Chabane, N.15
Mouren-Simeoni, M.-C.16
Brice, A.17
Sponheim, E.18
Spurkland, I.19
Skjeldal, O.H.20
Coleman, M.21
Pearl, P.L.22
Cohen, I.L.23
Tsiouris, J.24
Zappella, M.25
Menchetti, G.26
Pompella, A.27
Aschauer, H.28
Van Maldergem, L.29
more..
-
27
-
-
77952374703
-
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
-
Gauthier J, Champagne N, Lafreniere RG, et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci USA 2010; 107:7863-7868.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 7863-7868
-
-
Gauthier, J.1
Champagne, N.2
Lafreniere, R.G.3
-
29
-
-
77952827032
-
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
-
Berkel S, Marshall CR, Weiss B, et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010; 42:489-491.
-
(2010)
Nat Genet
, vol.42
, pp. 489-491
-
-
Berkel, S.1
Marshall, C.R.2
Weiss, B.3
-
30
-
-
77954646843
-
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of european ancestry
-
Sousa I, Clark TG, Holt R, et al. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. Mol Autism 2010; 1:7.
-
(2010)
Mol Autism
, vol.1
, pp. 7
-
-
Sousa, I.1
Clark, T.G.2
Holt, R.3
-
31
-
-
77950645493
-
Mutation screening of melatonin-related genes in patients with autism spectrum disorders
-
Jonsson L, Ljunggren E, Bremer A, et al. Mutation screening of melatonin-related genes in patients with autism spectrum disorders. BMC Med Genomics 2010; 3:10.
-
(2010)
BMC Med Genomics
, vol.3
, pp. 10
-
-
Jonsson, L.1
Ljunggren, E.2
Bremer, A.3
-
32
-
-
77955389706
-
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population
-
Chaste P, Clement N, Mercati O, et al. Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population. PLoS One 2010; 5:e11495.
-
(2010)
PLoS One
, vol.5
-
-
Chaste, P.1
Clement, N.2
Mercati, O.3
-
33
-
-
77955981330
-
Linkage and candidate gene studies of autism spectrum disorders in european populations
-
Holt R, Barnby G, Maestrini E, et al. Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 2010; 18:1013-1019.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1013-1019
-
-
Holt, R.1
Barnby, G.2
Maestrini, E.3
-
34
-
-
70349492911
-
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
-
Meechan DW, Tucker ES, Maynard TM, LaMantia AS. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA 2009; 106:16434-16445.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 16434-16445
-
-
Meechan, D.W.1
Tucker, E.S.2
Maynard, T.M.3
LaMantia, A.S.4
-
35
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459:569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
-
36
-
-
47249088331
-
Identifying autism loci and genes by tracing recent shared ancestry
-
DOI 10.1126/science.1157657
-
Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008; 321:218-223. (Pubitemid 351989087)
-
(2008)
Science
, vol.321
, Issue.5886
, pp. 218-223
-
-
Morrow, E.M.1
Yoo, S.-Y.2
Flavell, S.W.3
Kim, T.-K.4
Lin, Y.5
Hill, R.S.6
Mukaddes, N.M.7
Balkhy, S.8
Gascon, G.9
Hashmi, A.10
Al-Saad, S.11
Ware, J.12
Joseph, R.M.13
Greenblatt, R.14
Gleason, D.15
Ertelt, J.A.16
Apse, K.A.17
Bodell, A.18
Partlow, J.N.19
Barry, B.20
Yao, H.21
Markianos, K.22
Ferland, R.J.23
Greenberg, M.E.24
Walsh, C.A.25
more..
-
37
-
-
78649634946
-
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelop-mental disorders
-
Rosenfeld JA, Ballif BC, Torchia BS, et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelop-mental disorders. Genet Med 2010; 12:694-702.
-
(2010)
Genet Med
, vol.12
, pp. 694-702
-
-
Rosenfeld, J.A.1
Ballif, B.C.2
Torchia, B.S.3
-
38
-
-
43849112803
-
Immune transcriptome alterations in the temporal cortex of subjects with autism
-
Garbett K, Ebert PJ, Mitchell A, et al. Immune transcriptome alterations in the temporal cortex of subjects with autism. Neurobiol Dis 2008; 30:303-311.
-
(2008)
Neurobiol Dis
, vol.30
, pp. 303-311
-
-
Garbett, K.1
Ebert, P.J.2
Mitchell, A.3
-
39
-
-
46149103853
-
Heterogeneous dysregulation of microRNAs across the autism spectrum
-
Abu-Elneel K, Liu T, Gazzaniga FS, et al. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics 2008; 9:153-161.
-
(2008)
Neurogenetics
, vol.9
, pp. 153-161
-
-
Abu-Elneel, K.1
Liu, T.2
Gazzaniga, F.S.3
-
40
-
-
66349137661
-
Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: Evidence for circadian rhythm dysfunction in severe autism
-
Hu VW, Sarachana T, Kim KS, et al. Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res 2009; 2:78-97.
-
(2009)
Autism Res
, vol.2
, pp. 78-97
-
-
Hu, V.W.1
Sarachana, T.2
Kim, K.S.3
-
41
-
-
78751689926
-
Investigation of posttranscriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines
-
Sarachana T, Zhou R, Chen G, et al. Investigation of posttranscriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med 2010; 2:23.
-
(2010)
Genome Med
, vol.2
, pp. 23
-
-
Sarachana, T.1
Zhou, R.2
Chen, G.3
-
42
-
-
66349107637
-
Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism
-
Talebizadeh Z, Butler MG, Theodoro MF. Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism. Autism Res 2008; 1:240-250.
-
(2008)
Autism Res
, vol.1
, pp. 240-250
-
-
Talebizadeh, Z.1
Butler, M.G.2
Theodoro, M.F.3
-
43
-
-
79952313458
-
Gene and miRNA expression profiles in autism spectrum disorders
-
Ghahramani Seno MM, Hu P, Gwadry FG, et al. Gene and miRNA expression profiles in autism spectrum disorders. Brain Res 2011; 1380:85-97.
-
(2011)
Brain Res
, vol.1380
, pp. 85-97
-
-
Ghahramani Seno, M.M.1
Hu, P.2
Gwadry, F.G.3
-
44
-
-
77749279797
-
Regulation of PI3-kinase/Akt signaling by muscle-enriched microRNA-486
-
Small EM, O'Rourke JR, Moresi V, et al. Regulation of PI3-kinase/Akt signaling by muscle-enriched microRNA-486. Proc Natl Acad Sci USA 2010; 107:4218-4223.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 4218-4223
-
-
Small, E.M.1
O'Rourke, J.R.2
Moresi, V.3
-
45
-
-
35448969301
-
Sex-dependent up-regulation of two splicing factors, Psf and Srp20, during hippocampal memory formation
-
DOI 10.1101/lm.640307
-
Antunes-Martins A, Mizuno K, Irvine EE, et al. Sex-dependent up-regulation of two splicing factors, Psf and Srp20, during hippocampal memory formation. Learn Mem 2007; 14:693-702. (Pubitemid 350036776)
-
(2007)
Learning and Memory
, vol.14
, Issue.10
, pp. 693-702
-
-
Antunes-Martins, A.1
Mizuno, K.2
Irvine, E.E.3
Lepicard, E.M.4
Giese, K.P.5
-
46
-
-
77749336752
-
Essential roles of notch signaling in maintenance of neural stem cells in developing and adult brains
-
Imayoshi I, Sakamoto M, Yamaguchi M, et al. Essential roles of Notch signaling in maintenance of neural stem cells in developing and adult brains. J Neurosci 2010; 30:3489-3498.
-
(2010)
J Neurosci
, vol.30
, pp. 3489-3498
-
-
Imayoshi, I.1
Sakamoto, M.2
Yamaguchi, M.3
-
47
-
-
75349088719
-
Genetic causes of syndromic and nonsyndromic autism
-
Caglayan AO. Genetic causes of syndromic and nonsyndromic autism. Dev Med Child Neurol 2010; 52:130-138.
-
(2010)
Dev Med Child Neurol
, vol.52
, pp. 130-138
-
-
Caglayan, A.O.1
-
48
-
-
77953028667
-
The neuropathology of autism: Defects of neurogenesis and neuronal migration, and dysplastic changes
-
Wegiel J, Kuchna I, Nowicki K, et al. The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neu-ropathol 2010; 119:755-770.
-
(2010)
Acta Neu-ropathol
, vol.119
, pp. 755-770
-
-
Wegiel, J.1
Kuchna, I.2
Nowicki, K.3
-
49
-
-
77957912870
-
The genetics of child psychiatric disorders: Focus on autism and tourette syndrome
-
State MW. The genetics of child psychiatric disorders: focus on autism and Tourette syndrome. Neuron 2010; 68:254-269.
-
(2010)
Neuron
, vol.68
, pp. 254-269
-
-
State, M.W.1
-
50
-
-
34447628063
-
Rethinking the nature of genetic vulnerability to autistic spectrum disorders
-
DOI 10.1016/j.tig.2007.06.003, PII S0168952507002120
-
Skuse DH. Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet 2007; 23:387-395. (Pubitemid 47088014)
-
(2007)
Trends in Genetics
, vol.23
, Issue.8
, pp. 387-395
-
-
Skuse, D.H.1
-
51
-
-
78349233542
-
Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population
-
St Pourcain B, Wang K, Glessner JT, et al. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 2010; 167:1364-1372.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1364-1372
-
-
St. Pourcain, B.1
Wang, K.2
Glessner, J.T.3
-
52
-
-
77957296613
-
Autism, genetics and synaptic function alterations (in french)
-
Perche O, Laumonnier F, Baala L, et al. Autism, genetics and synaptic function alterations (in French). Pathol Biol (Paris) 2010; 58:381-386.
-
(2010)
Pathol Biol (Paris)
, vol.58
, pp. 381-386
-
-
Perche, O.1
Laumonnier, F.2
Baala, L.3
-
53
-
-
77957328900
-
Etiologies and molecular mechanisms of communication disorders
-
Smith SD, Grigorenko E, Willcutt E, et al. Etiologies and molecular mechanisms of communication disorders. J Dev Behav Pediatr 2010; 31:555-563.
-
(2010)
J Dev Behav Pediatr
, vol.31
, pp. 555-563
-
-
Smith, S.D.1
Grigorenko, E.2
Willcutt, E.3
-
54
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86:749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
55
-
-
77950564908
-
Clinical genetic testing for patients with autism spectrum disorders
-
Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010; 125:e727-e735.
-
(2010)
Pediatrics
, vol.125
-
-
Shen, Y.1
Dies, K.A.2
Holm, I.A.3
-
56
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
DOI 10.1056/NEJMoa075974
-
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. (Pubitemid 351240746)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.R.9
Green, T.10
Platt, O.S.11
Ruderfer, D.M.12
Walsh, C.A.13
Altshuler, D.14
Chakravarti, A.15
Tanzi, R.E.16
Stefansson, K.17
Santangelo, S.L.18
Gusella, J.F.19
Sklar, P.20
Wu, B.-L.21
Daly, M.J.22
more..
-
57
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
DOI 10.1093/hmg/ddm376
-
Kumar RA, Kara Mohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17:628-638. (Pubitemid 351201774)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.4
, pp. 628-638
-
-
Kumar, R.A.1
Karamohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook Jr., E.H.9
Dobyns, W.B.10
Christian, S.L.11
-
58
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82:477-488.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
-
59
-
-
77951206469
-
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
-
Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2010; 38:181-191.
-
(2010)
Neurobiol Dis
, vol.38
, pp. 181-191
-
-
Hogart, A.1
Wu, D.2
LaSalle, J.M.3
Schanen, N.C.4
-
60
-
-
77955301413
-
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature
-
Kitsiou-Tzeli S, Tzetis M, Sofocleous C, et al. De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. Am J Med Genet A 2010; 152A:1925-1932.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1925-1932
-
-
Kitsiou-Tzeli, S.1
Tzetis, M.2
Sofocleous, C.3
-
61
-
-
77956671613
-
A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: Genotype-phenotype correlation
-
Abu-Amero KK, Hellani AM, Salih MA, et al. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation. BMC Med Genet 2010; 11:135.
-
(2010)
BMC Med Genet
, vol.11
, pp. 135
-
-
Abu-Amero, K.K.1
Hellani, A.M.2
Salih, M.A.3
-
62
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
Bucan M, Abrahams BS, Wang K, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009; 5:e1000536.
-
(2009)
PLoS Genet
, vol.5
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
-
63
-
-
77955626857
-
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly
-
McBride KL, Varga EA, Pastore MT, et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res 2010; 3:137-141.
-
(2010)
Autism Res
, vol.3
, pp. 137-141
-
-
McBride, K.L.1
Varga, E.A.2
Pastore, M.T.3
-
64
-
-
77951898364
-
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
-
Garbern JY, Neumann M, Trojanowski JQ, et al. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain 2010; 133:1391-1402.
-
(2010)
Brain
, vol.133
, pp. 1391-1402
-
-
Garbern, J.Y.1
Neumann, M.2
Trojanowski, J.Q.3
-
65
-
-
77950368541
-
Slc25a12 disruption alters myelination and neurofilaments: A model for a hypomyelination syndrome and childhood neurodevelopmental disorders
-
Sakurai T, Ramoz N, Barreto M, et al. Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders. Biol Psychiatry 2010; 67:887-894.
-
(2010)
Biol Psychiatry
, vol.67
, pp. 887-894
-
-
Sakurai, T.1
Ramoz, N.2
Barreto, M.3
-
66
-
-
72949098166
-
Altered calcium homeostasis in autism-spectrum disorders: Evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1
-
Palmieri L, Papaleo V, Porcelli V, et al. Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Mol Psychiatry 2010; 15:38-52.
-
(2010)
Mol Psychiatry
, vol.15
, pp. 38-52
-
-
Palmieri, L.1
Papaleo, V.2
Porcelli, V.3
-
67
-
-
77956289293
-
Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder
-
Handley MT, Lian LY, Haynes LP, Burgoyne RD. Structural and functional deficits in a neuronal calcium sensor-1 mutant identified in a case of autistic spectrum disorder. PLoS One 2010; 5:e10534.
-
(2010)
PLoS One
, vol.5
-
-
Handley, M.T.1
Lian, L.Y.2
Haynes, L.P.3
Burgoyne, R.D.4
-
68
-
-
77954143958
-
Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean Autism spectrum disorders
-
Yang SY, Cho SC, Yoo HJ, et al. Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. Neurosci Lett 2010; 479:197-200.
-
(2010)
Neurosci Lett
, vol.479
, pp. 197-200
-
-
Yang, S.Y.1
Cho, S.C.2
Yoo, H.J.3
-
70
-
-
74949102875
-
Dysregulation of mTOR signaling in fragile X syndrome
-
Sharma A, Hoeffer CA, Takayasu Y, et al. Dysregulation of mTOR signaling in fragile X syndrome. J Neurosci 2010; 30:694-702.
-
(2010)
J Neurosci
, vol.30
, pp. 694-702
-
-
Sharma, A.1
Hoeffer, C.A.2
Takayasu, Y.3
-
71
-
-
70350412265
-
From mTOR to cognition: Molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
-
Ehninger D, de Vries PJ, Silva AJ. From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res 2009; 53:838-851.
-
(2009)
J Intellect Disabil Res
, vol.53
, pp. 838-851
-
-
Ehninger, D.1
De Vries, P.J.2
Silva, A.J.3
-
72
-
-
75749114797
-
MTOR signaling: At the crossroads of plasticity, memory and disease
-
Hoeffer CA, Klann E. mTOR signaling: at the crossroads of plasticity, memory and disease. Trends Neurosci 2010; 33:67-75.
-
(2010)
Trends Neurosci
, vol.33
, pp. 67-75
-
-
Hoeffer, C.A.1
Klann, E.2
-
73
-
-
77951897264
-
Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome
-
Dahlhaus R, El-Husseini A. Altered neuroligin expression is involved in social deficits in a mouse model of the fragile X syndrome. Behav Brain Res 2010; 208:96-105.
-
(2010)
Behav Brain Res
, vol.208
, pp. 96-105
-
-
Dahlhaus, R.1
El-Husseini, A.2
-
74
-
-
38749099110
-
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
-
DOI 10.1016/j.ajhg.2007.09.017, PII S0002929707000237
-
Bakkaloglu B, O'Roak BJ, Louvi A, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008; 82:165-173. (Pubitemid 351735952)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 165-173
-
-
Bakkaloglu, B.1
O'Roak, B.J.2
Louvi, A.3
Gupta, A.R.4
Abelson, J.F.5
Morgan, T.M.6
Chawarska, K.7
Klin, A.8
Ercan-Sencicek, A.G.9
Stillman, A.A.10
Tanriover, G.11
Abrahams, B.S.12
Duvall, J.A.13
Robbins, E.M.14
Geschwind, D.H.15
Biederer, T.16
Gunel, M.17
Lifton, R.P.18
State, M.W.19
-
75
-
-
77956503087
-
Dissecting the clinical hetero- geneity of autism spectrum disorders through defined genotypes
-
Bruining H, de Sonneville L, Swaab H, et al. Dissecting the clinical hetero- geneity of autism spectrum disorders through defined genotypes. PLoS One 2010; 5:e10887.
-
(2010)
PLoS One
, vol.5
-
-
Bruining, H.1
De Sonneville, L.2
Swaab, H.3
-
76
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41:1223-1227.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
-
77
-
-
77955364508
-
Penetrance for copy number variants associated with schizophrenia
-
Vassos E, Collier DA, Holden S, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 2010; 19:3477-3481.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3477-3481
-
-
Vassos, E.1
Collier, D.A.2
Holden, S.3
-
78
-
-
69949177829
-
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
-
Guilmatre A, Dubourg C, Mosca AL, et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009; 66:947-956.
-
(2009)
Arch Gen Psychiatry
, vol.66
, pp. 947-956
-
-
Guilmatre, A.1
Dubourg, C.2
Mosca, A.L.3
-
79
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
DOI 10.1038/sj.mp.4002049, PII 4002049
-
Friedman JI, Vrijenhoek T, Markx S, et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 2008; 13:261 - 266. (Pubitemid 351272653)
-
(2008)
Molecular Psychiatry
, vol.13
, Issue.3
, pp. 261-266
-
-
Friedman, J.I.1
Vrijenhoek, T.2
Markx, S.3
Janssen, I.M.4
Van Der Vliet, W.A.5
Faas, B.H.W.6
Knoers, N.V.7
Cahn, W.8
Kahn, R.S.9
Edelmann, L.10
Davis, K.L.11
Silverman, J.M.12
Brunner, H.G.13
Van Kessel, A.G.14
Wijmenga, C.15
Ophoff, R.A.16
Veltman, J.A.17
-
80
-
-
77955694150
-
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia
-
Pagnamenta AT, Bacchelli E, de Jonge MV, et al. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry 2010; 68:320-328.
-
(2010)
Biol Psychiatry
, vol.68
, pp. 320-328
-
-
Pagnamenta, A.T.1
Bacchelli, E.2
De Jonge, M.V.3
-
81
-
-
0038278610
-
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
-
DOI 10.1016/S0888-7543(03)00097-1
-
Verkerk AJ, Mathews CA, Joosse M, et al. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 2003; 82:1-9. (Pubitemid 36693915)
-
(2003)
Genomics
, vol.82
, Issue.1
, pp. 1-9
-
-
Verkerk, A.J.M.H.1
Mathews, C.A.2
Joosse, M.3
Eussen, B.H.J.4
Heutink, P.5
Oostra, B.A.6
-
82
-
-
42649125261
-
Familial deletion within NLGN4 associated with autism and Tourette syndrome
-
DOI 10.1038/sj.ejhg.5202006, PII 5202006
-
Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 2008; 16:614-618. (Pubitemid 351594128)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.5
, pp. 614-618
-
-
Lawson-Yuen, A.1
Saldivar, J.-S.2
Sommer, S.3
Picker, J.4
-
83
-
-
77953807070
-
Analysis of 9p24 and 11 p12-13 regions in autism spectrum disorders: Rs1340513 in the JMJD2C gene is associated with ASDs in finnish sample
-
Kantojarvi K, Onkamo P, Vanhala R, et al. Analysis of 9p24 and 11 p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet 2010;20:102-108.
-
(2010)
Psychiatr Genet
, vol.20
, pp. 102-108
-
-
Kantojarvi, K.1
Onkamo, P.2
Vanhala, R.3
-
84
-
-
77954166772
-
Mutation screening of NOS1APgene in a large sample of psychiatric patients and controls
-
Delorme R, Betancur C, Scheid I, et al. Mutation screening of NOS1APgene in a large sample of psychiatric patients and controls. BMC Med Genet 2010; 11:108.
-
(2010)
BMC Med Genet
, vol.11
, pp. 108
-
-
Delorme, R.1
Betancur, C.2
Scheid, I.3
-
85
-
-
77955093058
-
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
-
Toro R, Konyukh M, Delorme R, et al. Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 2010; 26:363-372.
-
(2010)
Trends Genet
, vol.26
, pp. 363-372
-
-
Toro, R.1
Konyukh, M.2
Delorme, R.3
-
86
-
-
77955803943
-
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain
-
Nguyen A, Rauch TA, Pfeifer GP, Hu VW. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J 2010; 24:3036-3051.
-
(2010)
FASEB J
, vol.24
, pp. 3036-3051
-
-
Nguyen, A.1
Rauch, T.A.2
Pfeifer, G.P.3
Hu, V.W.4
-
87
-
-
36849075732
-
Behaviors associated with fever in children with autism spectrum disorders
-
DOI 10.1542/peds.2007-0360
-
Curran LK, Newschaffer CJ, Lee LC, et al. Behaviors associated with fever in children with autism spectrum disorders. Pediatrics 2007; 120:e1386-e1392. (Pubitemid 350223656)
-
(2007)
Pediatrics
, vol.120
, Issue.6
-
-
Curran, L.K.1
Newschaffer, C.J.2
Lee, L.-C.3
Crawford, S.O.4
Johnston, M.V.5
Zimmerman, A.W.6
-
89
-
-
77951499698
-
Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies
-
Tansey KE, Brookes KJ, Hill MJ, et al. Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies. Neurosci Lett 2010; 474:163-167.
-
(2010)
Neurosci Lett
, vol.474
, pp. 163-167
-
-
Tansey, K.E.1
Brookes, K.J.2
Hill, M.J.3
-
90
-
-
71149104488
-
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
-
Gregory SG, Connelly JJ, Towers AJ, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med 2009; 7:62.
-
(2009)
BMC Med
, vol.7
, pp. 62
-
-
Gregory, S.G.1
Connelly, J.J.2
Towers, A.J.3
-
91
-
-
71149121008
-
Defective oxytocin function: A clue to understanding the cause of autism?
-
Gurrieri F, Neri G. Defective oxytocin function: a clue to understanding the cause of autism? BMC Med 2009; 7:63.
-
(2009)
BMC Med
, vol.7
, pp. 63
-
-
Gurrieri, F.1
Neri, G.2
-
92
-
-
77950431449
-
Impaired hippocampal-pre-frontal synchrony in a genetic mouse model of schizophrenia
-
Sigurdsson T, Stark KL, Karayiorgou M, et al. Impaired hippocampal-pre-frontal synchrony in a genetic mouse model of schizophrenia. Nature 2010; 464:763-767.
-
(2010)
Nature
, vol.464
, pp. 763-767
-
-
Sigurdsson, T.1
Stark, K.L.2
Karayiorgou, M.3
-
93
-
-
69949085780
-
Autism: A world changing too fast for a mis-wired brain?
-
Gepner B, Feron F. Autism: a world changing too fast for a mis-wired brain? Neurosci Biobehav Rev 2009; 33:1227-1242.
-
(2009)
Neurosci Biobehav Rev
, vol.33
, pp. 1227-1242
-
-
Gepner, B.1
Feron, F.2
-
94
-
-
78349293844
-
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood
-
Lichtenstein P, Carlstrom E, Rastam M, et al. The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry 2010; 167:1357-1363.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1357-1363
-
-
Lichtenstein, P.1
Carlstrom, E.2
Rastam, M.3
-
95
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
DOI 10.1126/science.1138659
-
Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007; 316:445-449. (Pubitemid 46651493)
-
(2007)
Science
, vol.316
, Issue.5823
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
Leotta, A.11
Pai, D.12
Zhang, R.13
Lee, Y.-H.14
Hicks, J.15
Spence, S.J.16
Lee, A.T.17
Puura, K.18
Lehtimaki, T.19
Ledbetter, D.20
Gregersen, P.K.21
Bregman, J.22
Sutcliffe, J.S.23
Jobanputra, V.24
Chung, W.25
Warburton, D.26
King, M.-C.27
Skuse, D.28
Geschwind, D.H.29
Gilliam, T.C.30
Ye, K.31
Wigler, M.32
more..
-
96
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
DOI 10.1126/science.1155174
-
Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320:539-543. (Pubitemid 351590668)
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
Stray, S.M.11
Rippey, C.F.12
Roccanova, P.13
Makarov, V.14
Lakshmi, B.15
Findling, R.L.16
Sikich, L.17
Stromberg, T.18
Merriman, B.19
Gogtay, N.20
Butler, P.21
Eckstrand, K.22
Noory, L.23
Gochman, P.24
Long, R.25
Chen, Z.26
Davis, S.27
Baker, C.28
Eichler, E.E.29
Meltzer, P.S.30
Nelson, S.F.31
Singleton, A.B.32
Lee, M.K.33
Rapoport, J.L.34
King, M.-C.35
Sebat, J.36
more..
-
97
-
-
77952691843
-
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
-
Ching MSL, Shen Y, Tan W-H, et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet 2010; 153B:937-947.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153 B
, pp. 937-947
-
-
Ching, M.S.L.1
Shen, Y.2
Tan, W.-H.3
-
98
-
-
70350571767
-
Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level
-
Daoud H, Bonnet-Brilhault F, Vedrine S, et al. Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry 2009; 66:906-910.
-
(2009)
Biol Psychiatry
, vol.66
, pp. 906-910
-
-
Daoud, H.1
Bonnet-Brilhault, F.2
Vedrine, S.3
-
99
-
-
77955563933
-
Disruption at the PTCHD1 locus on xp22.11 in autism spectrum disorder and intellectual disability
-
Noor A, Whibley A, Marshall CR, et al. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci Transl Med 2010; 2:49ra68.
-
(2010)
Sci Transl Med
, vol.2
-
-
Noor, A.1
Whibley, A.2
Marshall, C.R.3
-
100
-
-
76549106275
-
SOX E genes: Sox9 and SOX8 in mammalian testis development
-
Barrionuevo F, Scherer G. SOX E genes: SOX9 and SOX8 in mammalian testis development. Int J Biochem Cell Biol 2010; 42:433-436.
-
(2010)
Int J Biochem Cell Biol
, vol.42
, pp. 433-436
-
-
Barrionuevo, F.1
Scherer, G.2
-
101
-
-
0011396109
-
The extreme-male-brain theory of autism
-
Tager-Flusberg H, editor Cambridge, MA: MIT Press
-
Baron-Cohen S. The extreme-male-brain theory of autism. In:Tager-Flusberg H, editor. Neurodevelopmental disorders. Cambridge, MA: MIT Press; 1999.
-
(1999)
Neurodevelopmental Disorders
-
-
Baron-Cohen, S.1
-
102
-
-
77949418629
-
Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder
-
Rubenstein JL. Three hypotheses for developmental defects that may underlie some forms of autism spectrum disorder. Curr Opin Neurol 2010; 23: 118-123.
-
(2010)
Curr Opin Neurol
, vol.23
, pp. 118-123
-
-
Rubenstein, J.L.1
-
103
-
-
77949368541
-
Contributions of the environment and environmentally vulner- able physiology to autism spectrum disorders
-
Herbert MR. Contributions of the environment and environmentally vulner- able physiology to autism spectrum disorders. Curr Opin Neurol 2010; 23:103-110.
-
(2010)
Curr Opin Neurol
, vol.23
, pp. 103-110
-
-
Herbert, M.R.1
-
104
-
-
73749086125
-
Genetic variant of glutathione peroxidase 1 in autism
-
Ming X, Johnson WG, Stenroos ES, Mars A, Lambert GH, Buyske S. Genetic variant of glutathione peroxidase 1 in autism. Brain Dev 2010; 32:105-109.
-
(2010)
Brain Dev
, vol.32
, pp. 105-109
-
-
Ming, X.1
Johnson, W.G.2
Stenroos, E.S.3
Mars, A.4
Lambert, G.H.5
Buyske, S.6
-
105
-
-
78649322790
-
Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome
-
Ashwood P, Krakowiak P, Hertz-Picciotto I, et al. Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun 2011; 25:40-45.
-
(2011)
Brain Behav Immun
, vol.25
, pp. 40-45
-
-
Ashwood, P.1
Krakowiak, P.2
Hertz-Picciotto, I.3
-
106
-
-
77952229511
-
Neuroligin-deficient mutants of C. Elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity
-
Hunter JW, Mullen GP, McManus JR, et al. Neuroligin-deficient mutants of C. elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity. Dis Model Mech 2010; 3:366-376.
-
(2010)
Dis Model Mech
, vol.3
, pp. 366-376
-
-
Hunter, J.W.1
Mullen, G.P.2
McManus, J.R.3
-
107
-
-
70649088022
-
In utero beta 2 adrenergic agonist exposure and adverse neurophysiologic and behavioral outcomes
-
Witter FR, Zimmerman AW, Reichmann JP, Connors SL. In utero beta 2 adrenergic agonist exposure and adverse neurophysiologic and behavioral outcomes. Am J Obstet Gynecol 2009; 201:553-559.
-
(2009)
Am J Obstet Gynecol
, vol.201
, pp. 553-559
-
-
Witter, F.R.1
Zimmerman, A.W.2
Reichmann, J.P.3
Connors, S.L.4
|