-
1
-
-
34249735268
-
The epidemiology of autism spectrum disorders
-
Newschaffer, C.J. et al. 2007. The epidemiology of autism spectrum disorders. Annu. Rev. Public Health. 28 : 235 258.
-
(2007)
Annu. Rev. Public Health.
, vol.28
, pp. 235-258
-
-
Newschaffer, C.J.1
-
2
-
-
0037218690
-
Prevalence of autism in a US metropolitan area
-
Yeargin-Allsopp, M. et al. 2003. Prevalence of autism in a US metropolitan area. JAMA 289 : 49 55.
-
(2003)
JAMA
, vol.289
, pp. 49-55
-
-
Yeargin-Allsopp, M.1
-
3
-
-
35148899703
-
The role of the neurobiologist in redefining the diagnosis of autism
-
London, E. 2007. The role of the neurobiologist in redefining the diagnosis of autism. Brain Pathol. 17 : 408 411.
-
(2007)
Brain Pathol.
, vol.17
, pp. 408-411
-
-
London, E.1
-
4
-
-
33846449102
-
Endophenotype approach to developmental psychopathology: Implications for autism research
-
&
-
Viding, E. & S.J. Blakemore. 2007. Endophenotype approach to developmental psychopathology: Implications for autism research. Behav. Genet. 37 : 51 60.
-
(2007)
Behav. Genet.
, vol.37
, pp. 51-60
-
-
Viding, E.1
Blakemore, S.J.2
-
5
-
-
35148841101
-
The neuropathology of autism
-
Casanova, M.F. 2007. The neuropathology of autism. Brain Pathol. 17 : 422 433.
-
(2007)
Brain Pathol.
, vol.17
, pp. 422-433
-
-
Casanova, M.F.1
-
6
-
-
35148839591
-
The neurobiology of autism
-
&
-
Pardo, C.A. & C.G. Eberhart. 2007. The neurobiology of autism. Brain Pathol. 17 : 434 447.
-
(2007)
Brain Pathol.
, vol.17
, pp. 434-447
-
-
Pardo, C.A.1
Eberhart, C.G.2
-
7
-
-
33846921789
-
Autism spectrum disorders: Developmental disconnection syndromes
-
&
-
Geschwind, D.H. & P. Levitt. 2007. Autism spectrum disorders: Developmental disconnection syndromes. Curr. Opin. Neurobiol. 17 : 103 111.
-
(2007)
Curr. Opin. Neurobiol.
, vol.17
, pp. 103-111
-
-
Geschwind, D.H.1
Levitt, P.2
-
8
-
-
33746314832
-
Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues
-
&
-
Persico, A.M. & T. Bourgeron. 2006. Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends Neurosci. 29 : 349 358.
-
(2006)
Trends Neurosci.
, vol.29
, pp. 349-358
-
-
Persico, A.M.1
Bourgeron, T.2
-
9
-
-
32844460507
-
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
-
Vorstman, J.A. et al. 2006. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol. Psychiatry 11 : 18 28.
-
(2006)
Mol. Psychiatry
, vol.11
, pp. 18-28
-
-
Vorstman, J.A.1
-
10
-
-
0029011991
-
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients
-
Christian, S.L. et al. 1995. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. Am. J. Hum. Genet. 57 : 40 48.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 40-48
-
-
Christian, S.L.1
-
11
-
-
44349191455
-
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo, T. et al. 2008. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat. Genet. 40 : 719 721.
-
(2008)
Nat. Genet.
, vol.40
, pp. 719-721
-
-
Sahoo, T.1
-
12
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
Bonaglia, M.C. et al. 2001. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am. J. Hum. Genet. 69 : 261 268.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 261-268
-
-
Bonaglia, M.C.1
-
13
-
-
30344446622
-
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
-
Durand, C.M. et al. 2006. Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B : 67 70.
-
(2006)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.141
, pp. 67-70
-
-
Durand, C.M.1
-
14
-
-
53949113560
-
Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome
-
van Rijn, S. et al. 2008. Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome. J. Autism. Dev. Disord. 38 : 1634 1641.
-
(2008)
J. Autism. Dev. Disord.
, vol.38
, pp. 1634-1641
-
-
Van Rijn, S.1
-
15
-
-
0141756141
-
The XYY syndrome: A follow-up study on 38 boys
-
&
-
Geerts, M., J. Steyaert & J.P. Fryns. 2003. The XYY syndrome: A follow-up study on 38 boys. Genet. Couns. 14 : 267 279.
-
(2003)
Genet. Couns.
, vol.14
, pp. 267-279
-
-
Geerts, M.1
Steyaert, J.2
Fryns, J.P.3
-
16
-
-
33846493173
-
Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome
-
Weiss, L.A. et al. 2007. Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome. Hum. Mol. Genet. 16 : 107 113.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 107-113
-
-
Weiss, L.A.1
-
17
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat, J. et al. 2007. Strong association of de novo copy number mutations with autism. Science 316 : 445 449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
-
18
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon, R. et al. 2006. Global variation in copy number in the human genome. Nature 444 : 444 454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
19
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
Stranger, B.E. et al. 2007. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315 : 848 853.
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
-
20
-
-
35748971743
-
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases
-
De Smith, A.J. et al. 2007. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: Implications for association studies of complex diseases. Hum. Mol. Genet. 16 : 2783 2794.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2783-2794
-
-
De Smith, A.J.1
-
21
-
-
58149147097
-
A high-density SNP genome-wide linkage scan in a large autism extended pedigree
-
In press.
-
Allen-Brady, K. et al. 2008. A high-density SNP genome-wide linkage scan in a large autism extended pedigree. Mol. Psychiatry. In press.
-
(2008)
Mol. Psychiatry.
-
-
Allen-Brady, K.1
-
22
-
-
0242351927
-
Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland
-
Auranen, M. et al. 2003. Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland. Mol. Psychiatry 8 : 879 884.
-
(2003)
Mol. Psychiatry
, vol.8
, pp. 879-884
-
-
Auranen, M.1
-
23
-
-
85047695028
-
Linkage and association of the glutamate receptor 6 gene with autism
-
Jamain, S. et al. 2002. Linkage and association of the glutamate receptor 6 gene with autism. Mol. Psychiatry 7 : 302 310.
-
(2002)
Mol. Psychiatry
, vol.7
, pp. 302-310
-
-
Jamain, S.1
-
24
-
-
0242300623
-
Postnatal neurodevelopmental disorders: Meeting at the synapse?
-
Zoghbi, H.Y. 2003. Postnatal neurodevelopmental disorders: Meeting at the synapse? Science 302 : 826 830.
-
(2003)
Science
, vol.302
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
25
-
-
17844398752
-
Expression of three gene families encoding cell-cell communication molecules in the prepubertal nonhuman primate hypothalamus
-
&
-
Mungenast, A.E. & S.R. Ojeda. 2005. Expression of three gene families encoding cell-cell communication molecules in the prepubertal nonhuman primate hypothalamus. J. Neuroendocrinol. 17 : 208 219.
-
(2005)
J. Neuroendocrinol.
, vol.17
, pp. 208-219
-
-
Mungenast, A.E.1
Ojeda, S.R.2
-
26
-
-
0030026657
-
Structures, alternative splicing, and neurexin binding of multiple neuroligins
-
&
-
Ichtchenko, K., T. Nguyen & T.C. Sudhof. 1996. Structures, alternative splicing, and neurexin binding of multiple neuroligins. J. Biol. Chem. 271 : 2676 2682.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 2676-2682
-
-
Ichtchenko, K.1
Nguyen, T.2
Sudhof, T.C.3
-
27
-
-
33747227396
-
The neuroligin and neurexin families: From structure to function at the synapse
-
&
-
Lise, M.F. & A. El-Husseini. 2006. The neuroligin and neurexin families: From structure to function at the synapse. Cell Mol. Life Sci. 63 : 1833 1849.
-
(2006)
Cell Mol. Life Sci.
, vol.63
, pp. 1833-1849
-
-
Lise, M.F.1
El-Husseini, A.2
-
28
-
-
42649125261
-
Familial deletion within NLGN4 associated with autism and Tourette syndrome
-
Lawson-Yuen, A. et al. 2008. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur. J. Hum. Genet. 16 : 614 618.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 614-618
-
-
Lawson-Yuen, A.1
-
29
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier, F. et al. 2004. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 74 : 552 557.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
-
30
-
-
20144389549
-
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
-
Yan, J. et al. 2005. Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients. Mol. Psychiatry 10 : 329 332.
-
(2005)
Mol. Psychiatry
, vol.10
, pp. 329-332
-
-
Yan, J.1
-
31
-
-
33745953966
-
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
-
Talebizadeh, Z. et al. 2006. Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J. Med. Genet. 43 : e21.
-
(2006)
J. Med. Genet.
, vol.43
-
-
Talebizadeh, Z.1
-
32
-
-
33745994650
-
Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex
-
&
-
Chih, B., L. Gollan & P. Scheiffele. 2006. Alternative splicing controls selective trans-synaptic interactions of the neuroligin-neurexin complex. Neuron 51 : 171 178.
-
(2006)
Neuron
, vol.51
, pp. 171-178
-
-
Chih, B.1
Gollan, L.2
Scheiffele, P.3
-
33
-
-
33750079257
-
High frequency of neurexin 1beta signal peptide structural variants in patients with autism
-
Feng, J. et al. 2006. High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci. Lett. 409 : 10 13.
-
(2006)
Neurosci. Lett.
, vol.409
, pp. 10-13
-
-
Feng, J.1
-
34
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari, P. et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet. 39 : 319 328.
-
(2007)
Nat. Genet.
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
-
35
-
-
44349193331
-
Neurexin 1alpha structural variants associated with autism
-
Yan, J. et al. 2008. Neurexin 1alpha structural variants associated with autism. Neurosci. Lett. 438 : 368 370.
-
(2008)
Neurosci. Lett.
, vol.438
, pp. 368-370
-
-
Yan, J.1
-
36
-
-
37049037275
-
A crystal-clear interaction: Relating neuroligin/neurexin complex structure to function at the synapse
-
&
-
Levinson, J.N. & A. El-Husseini. 2007. A crystal-clear interaction: Relating neuroligin/neurexin complex structure to function at the synapse. Neuron 56 : 937 939.
-
(2007)
Neuron
, vol.56
, pp. 937-939
-
-
Levinson, J.N.1
El-Husseini, A.2
-
37
-
-
14544275500
-
Neuroscience. Making synapses: A balancing act
-
&
-
Hussain, N.K. & M. Sheng. 2005. Neuroscience. Making synapses: A balancing act. Science 307 : 1207 1208.
-
(2005)
Science
, vol.307
, pp. 1207-1208
-
-
Hussain, N.K.1
Sheng, M.2
-
38
-
-
0033396331
-
Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
-
Poliak, S. et al. 1999. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24 : 1037 1047.
-
(1999)
Neuron
, vol.24
, pp. 1037-1047
-
-
Poliak, S.1
-
39
-
-
42349095075
-
Advances in autism genetics: On the threshold of a new neurobiology
-
&
-
Abrahams, B.S. & D.H. Geschwind. 2008. Advances in autism genetics: On the threshold of a new neurobiology. Nat. Rev. Genet. 9 : 341 355.
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
40
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
-
Strauss, K.A. et al. 2006. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N. Engl. J. Med. 354 : 1370 1377.
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
-
41
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
Friedman, J.I. et al. 2008. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol. Psychiatry 13 : 261 266.
-
(2008)
Mol. Psychiatry
, vol.13
, pp. 261-266
-
-
Friedman, J.I.1
-
42
-
-
38749140677
-
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
-
Alarcon, M. et al. 2008. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82 : 150 159.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 150-159
-
-
Alarcon, M.1
-
43
-
-
38749096303
-
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
-
Arking, D.E. et al. 2008. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet. 82 : 160 164.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 160-164
-
-
Arking, D.E.1
-
44
-
-
38749099110
-
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
-
Bakkaloglu, B. et al. 2008. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82 : 165 173.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 165-173
-
-
Bakkaloglu, B.1
-
45
-
-
85047695028
-
Linkage and association of the glutamate receptor 6 gene with autism
-
Jamain, S. et al. 2002. Linkage and association of the glutamate receptor 6 gene with autism. Mol. Psychiatry 7 : 302 310.
-
(2002)
Mol. Psychiatry
, vol.7
, pp. 302-310
-
-
Jamain, S.1
-
46
-
-
34547784323
-
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
-
Motazacker, M.M. et al. 2007. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 81 : 792 798.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 792-798
-
-
Motazacker, M.M.1
-
47
-
-
18944370955
-
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: Evidence of association at GRIN2A and ABAT
-
Barnby, G. et al. 2005. Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: Evidence of association at GRIN2A and ABAT. Am. J. Hum. Genet. 76 : 950 966.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 950-966
-
-
Barnby, G.1
-
48
-
-
0035856428
-
Postmortem brain abnormalities of the glutamate neurotransmitter system in autism
-
Purcell, A.E. et al. 2001. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology 57 : 1618 1628.
-
(2001)
Neurology
, vol.57
, pp. 1618-1628
-
-
Purcell, A.E.1
-
49
-
-
0042667153
-
Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis
-
Suzuki, A. et al. 2003. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat. Genet. 34 : 395 402.
-
(2003)
Nat. Genet.
, vol.34
, pp. 395-402
-
-
Suzuki, A.1
-
51
-
-
0037371673
-
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
-
Shao, Y. et al. 2003. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am. J. Hum. Genet. 72 : 539 548.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 539-548
-
-
Shao, Y.1
-
52
-
-
23944444250
-
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
-
Ma, D.Q. et al. 2005. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Am. J. Hum. Genet. 77 : 377 388.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 377-388
-
-
Ma, D.Q.1
-
53
-
-
6344271762
-
Autism and tuberous sclerosis
-
Wiznitzer, M. 2004. Autism and tuberous sclerosis. J. Child Neurol. 19 : 675 679.
-
(2004)
J. Child Neurol.
, vol.19
, pp. 675-679
-
-
Wiznitzer, M.1
-
54
-
-
33644953843
-
Impaired synaptic plasticity in a rat model of tuberous sclerosis
-
von der Brelie, C. et al. 2006. Impaired synaptic plasticity in a rat model of tuberous sclerosis. Eur. J. Neurosci. 23 : 686 692.
-
(2006)
Eur. J. Neurosci.
, vol.23
, pp. 686-692
-
-
Von Der Brelie, C.1
-
55
-
-
34248388957
-
TORC1 is a calcium- and cAMP-sensitive coincidence detector involved in hippocampal long-term synaptic plasticity
-
Kovacs, K.A. et al. 2007. TORC1 is a calcium- and cAMP-sensitive coincidence detector involved in hippocampal long-term synaptic plasticity. Proc. Natl. Acad. Sci. USA 104 : 4700 4705.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 4700-4705
-
-
Kovacs, K.A.1
-
56
-
-
28044456974
-
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
-
Tavazoie, S.F. et al. 2005. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat. Neurosci. 8 : 1727 1734.
-
(2005)
Nat. Neurosci.
, vol.8
, pp. 1727-1734
-
-
Tavazoie, S.F.1
-
57
-
-
0036592842
-
Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome
-
Fillano, J.J. et al. 2002. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J. Child Neurol. 17 : 435 439.
-
(2002)
J. Child Neurol.
, vol.17
, pp. 435-439
-
-
Fillano, J.J.1
-
58
-
-
0037766224
-
Mitochondrial dysfunction in autistic patients with 15q inverted duplication
-
Filipek, P.A. et al. 2003. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann. Neurol. 53 : 801 804.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 801-804
-
-
Filipek, P.A.1
-
59
-
-
9144239818
-
Mitochondrial DNA abnormalities and autistic spectrum disorders
-
Pons, R. et al. 2004. Mitochondrial DNA abnormalities and autistic spectrum disorders. J. Pediatr. 144 : 81 85.
-
(2004)
J. Pediatr.
, vol.144
, pp. 81-85
-
-
Pons, R.1
-
60
-
-
33845912666
-
Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene
-
Correia, C. et al. 2006. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. J. Autism. Dev. Disord. 36 : 1137 1140.
-
(2006)
J. Autism. Dev. Disord.
, vol.36
, pp. 1137-1140
-
-
Correia, C.1
-
61
-
-
44849131678
-
Autistic spectrum disorders and mitochondrial encephalopathies
-
Holtzman, D. 2008. Autistic spectrum disorders and mitochondrial encephalopathies. Acta Paediatr. 97 : 859 8560.
-
(2008)
Acta Paediatr.
, vol.97
, pp. 859-8560
-
-
Holtzman, D.1
-
62
-
-
0034703868
-
Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states
-
Kajander, O.A. et al. 2000. Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states. Hum. Mol. Genet. 9 : 2821 2835.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2821-2835
-
-
Kajander, O.A.1
-
63
-
-
4143081492
-
Two direct repeats cause most human mtDNA deletions
-
&
-
Samuels, D.C., E.A. Schon & P.F. Chinnery. 2004. Two direct repeats cause most human mtDNA deletions. Trends Genet. 20 : 393 38.
-
(2004)
Trends Genet.
, vol.20
, pp. 393-338
-
-
Samuels, D.C.1
Schon, E.A.2
Chinnery, P.F.3
-
64
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
-
Wallace, D.C. 2005. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu. Rev. Genet. 39 : 359 407.
-
(2005)
Annu. Rev. Genet.
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
65
-
-
44849128599
-
Expression and maintenance of mitochondrial DNA: New insights into human disease pathology
-
Shadel, G.S. 2008. Expression and maintenance of mitochondrial DNA: New insights into human disease pathology. Am. J. Pathol. 172 : 1445 1456.
-
(2008)
Am. J. Pathol.
, vol.172
, pp. 1445-1456
-
-
Shadel, G.S.1
-
66
-
-
0036043866
-
Energetics and oxidative stress in synaptic plasticity and neurodegenerative disorders
-
&
-
Mattson, JP & Liu, D. 2002. Energetics and oxidative stress in synaptic plasticity and neurodegenerative disorders. Neuromolecular. Med. 2 : 215 231.
-
(2002)
Neuromolecular. Med.
, vol.2
, pp. 215-231
-
-
Mattson, J.P.1
Liu, D.2
-
67
-
-
0034606205
-
Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13
-
Smith, M. et al. 2000. Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: Identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Am J. Med. Genet. 96 : 765 770.
-
(2000)
Am J. Med. Genet.
, vol.96
, pp. 765-770
-
-
Smith, M.1
-
68
-
-
0037810302
-
Molecular genetic delineation of a deletion of chromosome 13q12->q13 in a patient with autism and auditory processing deficits
-
Smith, M. et al. 2002. Molecular genetic delineation of a deletion of chromosome 13q12->q13 in a patient with autism and auditory processing deficits. Cytogenet. Genome. Res. 98 : 233 239.
-
(2002)
Cytogenet. Genome. Res.
, vol.98
, pp. 233-239
-
-
Smith, M.1
-
69
-
-
2542435173
-
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R
-
Ramanathan, S. et al. 2004. A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC. Med. Genet. 5 : 10.
-
(2004)
BMC. Med. Genet.
, vol.5
, pp. 10
-
-
Ramanathan, S.1
-
70
-
-
0034761970
-
Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: Report of a case and of new markers for deletion screening by PCR
-
Smith, M. et al. 2001. Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: Report of a case and of new markers for deletion screening by PCR. Cytogenet. Cell Genet. 94 : 15 22.
-
(2001)
Cytogenet. Cell Genet.
, vol.94
, pp. 15-22
-
-
Smith, M.1
-
71
-
-
39049125151
-
Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates
-
Uddin, M. et al. 2008. Molecular evolution of the cytochrome c oxidase subunit 5A gene in primates. BMC Evol. Biol. 8 : 8.
-
(2008)
BMC Evol. Biol.
, vol.8
, pp. 8
-
-
Uddin, M.1
-
72
-
-
0038238370
-
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
-
Castermans, D. et al. 2003. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J. Med. Genet. 40 : 352 356.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 352-356
-
-
Castermans, D.1
-
73
-
-
0035941287
-
The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present
-
Koc, E.C. et al. 2001. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. J. Biol. Chem. 276 : 43958 43969.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 43958-43969
-
-
Koc, E.C.1
-
74
-
-
0032570020
-
Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor
-
&
-
Zhang, Y. & L.L. Spremulli. 1998. Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor. Biochim. Biophys. Acta. 1443 : 245 250.
-
(1998)
Biochim. Biophys. Acta.
, vol.1443
, pp. 245-250
-
-
Zhang, Y.1
Spremulli, L.L.2
-
75
-
-
34248171499
-
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
-
Gempel, K. et al. 2007. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130 : 2037 2044.
-
(2007)
Brain
, vol.130
, pp. 2037-2044
-
-
Gempel, K.1
-
76
-
-
21444444084
-
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene
-
Wassink, T.H. et al. 2005. Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am. J. Med. Genet. B Neuropsychiatr. Genet. 136B : 36 44.
-
(2005)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.136
, pp. 36-44
-
-
Wassink, T.H.1
-
77
-
-
34047114932
-
Characterization of a recurrent 15q24 microdeletion syndrome
-
Sharp, A.J. et al. 2007. Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet. 16 : 567 572.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 567-572
-
-
Sharp, A.J.1
-
78
-
-
46949097182
-
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
-
Epub ahead of print.
-
Klopocki, E. et al. 2007. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Eur. J. Pediatr. Epub ahead of print.
-
(2007)
Eur. J. Pediatr.
-
-
Klopocki, E.1
-
79
-
-
46649089126
-
Mutator phenotype of mammalian cells due to deficiency of NEIL1 DNA glycosylase, an oxidized base-specific repair enzyme
-
Epub ahead of print.
-
Maiti, A.K. et al. 2008. Mutator phenotype of mammalian cells due to deficiency of NEIL1 DNA glycosylase, an oxidized base-specific repair enzyme. DNA Repair (Amst). Epub ahead of print.
-
(2008)
DNA Repair (Amst).
-
-
Maiti, A.K.1
-
80
-
-
33847613569
-
Oxidative DNA damage repair in mammalian cells: A new perspective
-
Hazra, T.K. et al. 2007. Oxidative DNA damage repair in mammalian cells: A new perspective. DNA Repair (Amst). 6 : 470 480.
-
(2007)
DNA Repair (Amst).
, vol.6
, pp. 470-480
-
-
Hazra, T.K.1
-
81
-
-
33846372038
-
The immunolocalization of the synaptic glycoprotein neuroplastin differs substantially between the human and the rodent brain
-
Bernstein, H.G. et al. 2007. The immunolocalization of the synaptic glycoprotein neuroplastin differs substantially between the human and the rodent brain. Brain Res. 1134 : 107 112.
-
(2007)
Brain Res.
, vol.1134
, pp. 107-112
-
-
Bernstein, H.G.1
-
82
-
-
33750078681
-
The cell adhesion molecule neuroplastin-65 inhibits hippocampal long-term potentiation via a mitogen-activated protein kinase p38-dependent reduction in surface expression of GluR1-containing glutamate receptors
-
Empson, R.M. et al. 2006. The cell adhesion molecule neuroplastin-65 inhibits hippocampal long-term potentiation via a mitogen-activated protein kinase p38-dependent reduction in surface expression of GluR1-containing glutamate receptors. J. Neurochem. 99 : 850 860.
-
(2006)
J. Neurochem.
, vol.99
, pp. 850-860
-
-
Empson, R.M.1
-
83
-
-
22344436671
-
Structurally and functionally unique complexins at retinal ribbon synapses
-
Reim, K. et al. 2005. Structurally and functionally unique complexins at retinal ribbon synapses. J. Cell Biol. 169 : 669 680.
-
(2005)
J. Cell Biol.
, vol.169
, pp. 669-680
-
-
Reim, K.1
-
84
-
-
45849124923
-
Endosomal sorting and signalling: An emerging role for sorting nexins
-
Epub ahead of print.
-
Cullen, P.J. 2008. Endosomal sorting and signalling: An emerging role for sorting nexins. Nat. Rev. Mol. Cell Biol. Epub ahead of print.
-
(2008)
Nat. Rev. Mol. Cell Biol.
-
-
Cullen, P.J.1
-
85
-
-
17044388537
-
Selenoprotein W as molecular target of methylmercury in human neuronal cells is down-regulated by GSH depletion
-
&
-
Kim, Y.J., Y.G. Chai & J.C. Ryu. 2005. Selenoprotein W as molecular target of methylmercury in human neuronal cells is down-regulated by GSH depletion. Biochem. Biophys. Res. Commun. 330 : 1095 1102.
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.330
, pp. 1095-1102
-
-
Kim, Y.J.1
Chai, Y.G.2
Ryu, J.C.3
-
86
-
-
33750526854
-
Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation
-
Okahara, F. et al. 2006. Critical role of PICT-1, a tumor suppressor candidate, in phosphatidylinositol 3,4,5-trisphosphate signals and tumorigenic transformation. Mol. Biol. Cell 17 : 4888 4895.
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 4888-4895
-
-
Okahara, F.1
-
87
-
-
20244367771
-
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
-
Butler M.G. et al. 2005. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J. Med. Genet. 42 : 318 321.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 318-321
-
-
Butler, M.G.1
-
88
-
-
35548960064
-
The putative tumor suppressor gene GLTSCR2 induces PTEN-modulated cell death
-
Yim, J.H. et al. 2007. The putative tumor suppressor gene GLTSCR2 induces PTEN-modulated cell death. Cell Death Differ. 14 : 1872 1879.
-
(2007)
Cell Death Differ.
, vol.14
, pp. 1872-1879
-
-
Yim, J.H.1
-
89
-
-
33845727992
-
The cadherin superfamily in neuronal connections and interactions
-
Takeichi, M. 2007. The cadherin superfamily in neuronal connections and interactions. Nat. Rev. Neurosci. 8 : 11 20.
-
(2007)
Nat. Rev. Neurosci.
, vol.8
, pp. 11-20
-
-
Takeichi, M.1
-
90
-
-
33748943986
-
Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language
-
Williams, N.A. et al. 2006. Accelerated evolution of Protocadherin11X/Y: A candidate gene-pair for cerebral asymmetry and language. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B : 623 633.
-
(2006)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.141
, pp. 623-633
-
-
Williams, N.A.1
-
91
-
-
0347301866
-
Protocadherin X (PCDHX) and Y (PCDHY) genes; Multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains
-
&
-
Blanco-Arias, P., C.A. Sargent & N.A. Affara. 2004. Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains. Mamm. Genome. 15 : 41 52.
-
(2004)
Mamm. Genome.
, vol.15
, pp. 41-52
-
-
Blanco-Arias, P.1
Sargent, C.A.2
Affara, N.A.3
-
92
-
-
30344446622
-
Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders
-
Durand, C.M. et al. 2006. Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet. 141B : 67 70.
-
(2006)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.141
, pp. 67-70
-
-
Durand, C.M.1
-
93
-
-
85047699064
-
Y chromosome haplogroups in autistic subjects
-
Jamain, S. et al. 2002. Y chromosome haplogroups in autistic subjects. Mol. Psychiatry 7 : 217 219.
-
(2002)
Mol. Psychiatry
, vol.7
, pp. 217-219
-
-
Jamain, S.1
-
94
-
-
34249291269
-
A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population
-
Guo, S.Z. et al. 2007. A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population. Schizophr. Res. 93 : 385 390.
-
(2007)
Schizophr. Res.
, vol.93
, pp. 385-390
-
-
Guo, S.Z.1
-
95
-
-
28144465326
-
Bipolar I disorder and schizophrenia: A 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios
-
Fallin, M.D. et al. 2005. Bipolar I disorder and schizophrenia: A 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am. J. Hum. Genet. 77 : 918 936.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 918-936
-
-
Fallin, M.D.1
-
96
-
-
42649100978
-
SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation
-
Blewitt, M.E. et al. 2008. SmcHD1, containing a structural-maintenance- of-chromosomes hinge domain, has a critical role in X inactivation. Nat. Genet. 40 : 663 669.
-
(2008)
Nat. Genet.
, vol.40
, pp. 663-669
-
-
Blewitt, M.E.1
-
97
-
-
42649089072
-
A structural-maintenance-of-chromosomes hinge domain-containing protein is required for RNA-directed DNA methylation
-
Kanno, T. et al. 2008. A structural-maintenance-of-chromosomes hinge domain-containing protein is required for RNA-directed DNA methylation. Nat. Genet. 40 : 670 675.
-
(2008)
Nat. Genet.
, vol.40
, pp. 670-675
-
-
Kanno, T.1
-
99
-
-
40949114128
-
Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat
-
Burbridge, T.J. et al. 2008. Postnatal analysis of the effect of embryonic knockdown and overexpression of candidate dyslexia susceptibility gene homolog Dcdc2 in the rat. Neuroscience 152 : 723 733.
-
(2008)
Neuroscience
, vol.152
, pp. 723-733
-
-
Burbridge, T.J.1
-
100
-
-
34250712870
-
Alternative exon usage selectively determines both tissue distribution and subcellular localization of the acyl-CoA thioesterase 7 gene products
-
Hunt, M.C. et al. 2007 Alternative exon usage selectively determines both tissue distribution and subcellular localization of the acyl-CoA thioesterase 7 gene products. Cell Mol. Life Sci. 64 : 1558 1570.
-
(2007)
Cell Mol. Life Sci.
, vol.64
, pp. 1558-1570
-
-
Hunt, M.C.1
-
101
-
-
0033802632
-
The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
-
Lord, C. et al. 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J. Autism. Dev. Disord. 30 : 205 223.
-
(2000)
J. Autism. Dev. Disord.
, vol.30
, pp. 205-223
-
-
Lord, C.1
-
102
-
-
0028906338
-
Autism as a strongly genetic disorder: Evidence from a British twin study
-
Bailey, A. et al. 1995. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol. Med. 25 : 63 77.
-
(1995)
Psychol. Med.
, vol.25
, pp. 63-77
-
-
Bailey, A.1
-
103
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder, C.E. et al. 2008. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am. J. Hum. Genet. 82 : 763 771.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 763-771
-
-
Bruder, C.E.1
-
104
-
-
33746858084
-
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes
-
Hu, V.W. et al. 2006. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics 7 : 118.
-
(2006)
BMC Genomics
, vol.7
, pp. 118
-
-
Hu, V.W.1
-
105
-
-
11244293921
-
A global view of epistasis
-
Moore, J.H. 2005. A global view of epistasis. Nat. Genet. 37 : 13 14.
-
(2005)
Nat. Genet.
, vol.37
, pp. 13-14
-
-
Moore, J.H.1
-
107
-
-
84971185409
-
The correlation between relatives on the supposition. of Mendelian inheritance
-
Fisher, R.A. 1918. The correlation between relatives on the supposition. of Mendelian inheritance. Trans. R. Soc. Edin. 52 : 399 433.
-
(1918)
Trans. R. Soc. Edin.
, vol.52
, pp. 399-433
-
-
Fisher, R.A.1
-
108
-
-
47249088331
-
Identifying autism loci and genes by tracing recent shared ancestry
-
Morrow, E.M. et al. 2008. Identifying autism loci and genes by tracing recent shared ancestry. Science 321 : 218 222.
-
(2008)
Science
, vol.321
, pp. 218-222
-
-
Morrow, E.M.1
|