-
1
-
-
0029872978
-
Autism: Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives
-
Bailey A, Phillips W, Rutter M. Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatr 1996; 37: 89-126.
-
(1996)
J Child Psychol Psychiatr
, vol.37
, pp. 89-126
-
-
Bailey, A.1
Phillips, W.2
Rutter, M.3
-
2
-
-
0033377678
-
The screening and diagnosis of autistic spectrum disorders
-
Filipek PA, Accardo PJ, Baranek GT, Cook EH, Dawson G, Gordon B, et al. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord 1999; 29: 439-84.
-
(1999)
J Autism Dev Disord
, vol.29
, pp. 439-484
-
-
Filipek, P.A.1
Accardo, P.J.2
Baranek, G.T.3
Cook, E.H.4
Dawson, G.5
Gordon, B.6
-
3
-
-
11944272620
-
Examination of candidate genes in language disorder: A model of genetic association for treatment studies
-
Haines J, Camarata S. Examination of candidate genes in language disorder: a model of genetic association for treatment studies. Ment Retard Dev Disabil Res Rev 2005; 10: 208-17.
-
(2005)
Ment Retard Dev Disabil Res Rev
, vol.10
, pp. 208-217
-
-
Haines, J.1
Camarata, S.2
-
4
-
-
0036888867
-
Autism, regression, and the broader autism phenotype
-
Lainhart JE, Ozonoff S, Coon H, Krasny L, Dinh E, Nice J, et al. Autism, regression, and the broader autism phenotype. Am J Med Genet 2002; 113: 231-7.
-
(2002)
Am J Med Genet
, vol.113
, pp. 231-237
-
-
Lainhart, J.E.1
Ozonoff, S.2
Coon, H.3
Krasny, L.4
Dinh, E.5
Nice, J.6
-
5
-
-
38549086199
-
-
American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-IV). Washington DC: APA; 1994. p. 66-71.
-
American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-IV). Washington DC: APA; 1994. p. 66-71.
-
-
-
-
7
-
-
0022104377
-
Inquiry into the incidence of hyperlexia in a statewide population of children with pervasive developmental disorder
-
Burd L, Kerbeshian J, Fisher W. Inquiry into the incidence of hyperlexia in a statewide population of children with pervasive developmental disorder. Psychol Rep 1985; 57: 236-8.
-
(1985)
Psychol Rep
, vol.57
, pp. 236-238
-
-
Burd, L.1
Kerbeshian, J.2
Fisher, W.3
-
8
-
-
0035666072
-
Speech and prosody characteristics of adolescents and adults with high functioning autism and Asperger syndrome
-
Shriberg LD, Paul R, McSweeny J, Klin A, Volkmar FR, Cohen DJ. Speech and prosody characteristics of adolescents and adults with high functioning autism and Asperger syndrome. J Speech Lang Hear Res 2001; 44: 1097-115.
-
(2001)
J Speech Lang Hear Res
, vol.44
, pp. 1097-1115
-
-
Shriberg, L.D.1
Paul, R.2
McSweeny, J.3
Klin, A.4
Volkmar, F.R.5
Cohen, D.J.6
-
9
-
-
0037386035
-
Update on the language disorders of individuals on the autistic spectrum
-
Rapin I, Dunn M. Update on the language disorders of individuals on the autistic spectrum. Brain Dev 2003; 25: 166-72.
-
(2003)
Brain Dev
, vol.25
, pp. 166-172
-
-
Rapin, I.1
Dunn, M.2
-
10
-
-
0037470427
-
Identifying neurocognitive phenotypes in autism
-
Tager-Flusberg H, Joseph RM. Identifying neurocognitive phenotypes in autism. Philos Trans R Soc B 2003; 358: 303-14.
-
(2003)
Philos Trans R Soc B
, vol.358
, pp. 303-314
-
-
Tager-Flusberg, H.1
Joseph, R.M.2
-
11
-
-
0032829549
-
Present and future possibilities for defining a phenotype for specific language impairment
-
Tager-Flusberg H, Cooper J. Present and future possibilities for defining a phenotype for specific language impairment. J Speech Lang Hear Res 1999; 42: 1275-8.
-
(1999)
J Speech Lang Hear Res
, vol.42
, pp. 1275-1278
-
-
Tager-Flusberg, H.1
Cooper, J.2
-
13
-
-
33644753148
-
Psychiatric endophenotypes and the development of valid animal models
-
Gould TD, Gottesman II. Psychiatric endophenotypes and the development of valid animal models. Genes Brain Behav 2006; 5: 113-9.
-
(2006)
Genes Brain Behav
, vol.5
, pp. 113-119
-
-
Gould, T.D.1
Gottesman II2
-
14
-
-
0035830071
-
Incorporating language phenotypes strengthens evidence of linkage to autism
-
Bradford Y, Haines J, Hutcheson H, Gardiner M, Braun T, Sheffield V, et al. Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001; 105: 539-47.
-
(2001)
Am J Med Genet
, vol.105
, pp. 539-547
-
-
Bradford, Y.1
Haines, J.2
Hutcheson, H.3
Gardiner, M.4
Braun, T.5
Sheffield, V.6
-
15
-
-
0037810302
-
Molecular genetic delineation of a deletion of chromosome 13q12-q13 in a patient with autism and auditory processing deficits
-
Smith M, Woodroffe A, Smith R, Holguin S, Martínez J, Filipek PA, et al. Molecular genetic delineation of a deletion of chromosome 13q12-q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res 2002; 98: 233-9.
-
(2002)
Cytogenet Genome Res
, vol.98
, pp. 233-239
-
-
Smith, M.1
Woodroffe, A.2
Smith, R.3
Holguin, S.4
Martínez, J.5
Filipek, P.A.6
-
16
-
-
0034548872
-
Neurobeachin: A protein kinase A-anchoring, beige/Chediak-Higashi protein homolog implicated in neuronal membrane traffic
-
Wang X, Herberg FW, Laue MM, Wullner C, Hu B, Petrasch-Parwez E, et al. Neurobeachin: a protein kinase A-anchoring, beige/Chediak-Higashi protein homolog implicated in neuronal membrane traffic. J Neurosci 2000; 20: 8551-65.
-
(2000)
J Neurosci
, vol.20
, pp. 8551-8565
-
-
Wang, X.1
Herberg, F.W.2
Laue, M.M.3
Wullner, C.4
Hu, B.5
Petrasch-Parwez, E.6
-
17
-
-
0038238370
-
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
-
Castermans D, Wilquet V, Parthoens E, Huysmans C, Steyaert J, Swinnen L, et al. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. J Med Genet 2003; 40: 352-6.
-
(2003)
J Med Genet
, vol.40
, pp. 352-356
-
-
Castermans, D.1
Wilquet, V.2
Parthoens, E.3
Huysmans, C.4
Steyaert, J.5
Swinnen, L.6
-
18
-
-
0032732441
-
Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development
-
Mariani M, Baldessari D, Francisconi S, Viggiano L, Rocchi M, Zappavigna V, et al. Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development. Hum Mol Genet 1999; 8: 2397-406.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2397-2406
-
-
Mariani, M.1
Baldessari, D.2
Francisconi, S.3
Viggiano, L.4
Rocchi, M.5
Zappavigna, V.6
-
19
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005; 6: 743-55.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
20
-
-
0033557797
-
DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is similar to doublecortin
-
Sossey-Alaoui K, Srivastava AK. DCAMKL1, a brain-specific transmembrane protein on 13q12.3 that is similar to doublecortin. Genomics 1999; 56: 121-6.
-
(1999)
Genomics
, vol.56
, pp. 121-126
-
-
Sossey-Alaoui, K.1
Srivastava, A.K.2
-
21
-
-
0031570714
-
Cloning and characterization of a novel member of the human MAD gene family (MADH6)
-
Watanabe TK, Suzuki M, Omori Y, Hishigaki H, Horie M, Kanemoto N, et al. Cloning and characterization of a novel member of the human MAD gene family (MADH6). Genomics 1997; 42: 446-51.
-
(1997)
Genomics
, vol.42
, pp. 446-451
-
-
Watanabe, T.K.1
Suzuki, M.2
Omori, Y.3
Hishigaki, H.4
Horie, M.5
Kanemoto, N.6
-
22
-
-
0028180315
-
The TGFb superfamily: New members, new receptors, and new genetic tests of function in different organisms
-
Kingsley DM. The TGFb superfamily: new members, new receptors, and new genetic tests of function in different organisms. Genes Dev 1994; 8: 133-46.
-
(1994)
Genes Dev
, vol.8
, pp. 133-146
-
-
Kingsley, D.M.1
-
23
-
-
0036302206
-
A major susceptibility locus for specific language impairment is located on 13q21
-
Bartlett CW, Flax JF, Logue MW, Vieland VJ, Bassett AS, Tallal P, et al. A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet 2002; 71: 45-55.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 45-55
-
-
Bartlett, C.W.1
Flax, J.F.2
Logue, M.W.3
Vieland, V.J.4
Bassett, A.S.5
Tallal, P.6
-
24
-
-
0033866551
-
Chromosome 7q: Where autism meets language disorder? [editorial]
-
Folstein SE, Mankoski, RE. Chromosome 7q: where autism meets language disorder? [editorial]. Am J Hum Genet 2000; 67: 278-81.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 278-281
-
-
Folstein, S.E.1
Mankoski, R.E.2
-
25
-
-
0035827826
-
Evidence supporting WNT2 as an autism susceptibility gene
-
Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, et al. Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 2001; 105: 406-13.
-
(2001)
Am J Med Genet
, vol.105
, pp. 406-413
-
-
Wassink, T.H.1
Piven, J.2
Vieland, V.J.3
Huang, J.4
Swiderski, R.E.5
Pietila, J.6
-
26
-
-
0036138102
-
-
Alarcón M, Cantor RM, Liu J, Gilliam TC, Autism Genetic Resource Exchange Consortium, Geschwind DH. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002; 70: 60-71.
-
Alarcón M, Cantor RM, Liu J, Gilliam TC, Autism Genetic Resource Exchange Consortium, Geschwind DH. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002; 70: 60-71.
-
-
-
-
27
-
-
0028870054
-
Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder
-
Vargha-Khadem F, Watkins KE, Alcock KJ, Fletcher P, Passingham RE. Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder. Proc Natl Acad Sci U S A 1995; 92: 930-3.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 930-933
-
-
Vargha-Khadem, F.1
Watkins, K.E.2
Alcock, K.J.3
Fletcher, P.4
Passingham, R.E.5
-
28
-
-
33749869970
-
Speech, prosody, and voice characteristics of a mother and daughter with a 7,13 translocation affecting FOXP2
-
Shriberg LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA. Speech, prosody, and voice characteristics of a mother and daughter with a 7,13 translocation affecting FOXP2. J Speech Lang Hear Res 2006; 49: 500-25.
-
(2006)
J Speech Lang Hear Res
, vol.49
, pp. 500-525
-
-
Shriberg, L.D.1
Ballard, K.J.2
Tomblin, J.B.3
Duffy, J.R.4
Odell, K.H.5
Williams, C.A.6
-
29
-
-
0026145984
-
Familial aggregation of a developmental language disorder
-
Gopnik M, Crago MB. Familial aggregation of a developmental language disorder. Cognition 1991; 39: 1-50.
-
(1991)
Cognition
, vol.39
, pp. 1-50
-
-
Gopnik, M.1
Crago, M.B.2
-
30
-
-
0036190947
-
Behavioural analysis of an inherited speech and language disorder: Comparison with acquired aphasia
-
Watkins KE, Dronkers NF, Vargha-Khadem F. Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. Brain 2002; 125: 452-64.
-
(2002)
Brain
, vol.125
, pp. 452-464
-
-
Watkins, K.E.1
Dronkers, N.F.2
Vargha-Khadem, F.3
-
31
-
-
21044445447
-
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
-
MacDermot KD, Bonora E, Sykes N, Coupe AM, Lai CS, Vernes SC, et al. Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 2005; 76: 1074-80.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1074-1080
-
-
MacDermot, K.D.1
Bonora, E.2
Sykes, N.3
Coupe, A.M.4
Lai, C.S.5
Vernes, S.C.6
-
32
-
-
24944473188
-
FOXP2: Del trastorno específico a la biología molecular del lenguaje. I. Aspectos etiológicos, neuroanatómicos, neurofisiológicos y moleculares.
-
Benítez-Burraco A. FOXP2: del trastorno específico a la biología molecular del lenguaje. I. Aspectos etiológicos, neuroanatómicos, neurofisiológicos y moleculares. Rev Neurol 2005; 40: 671-82.
-
(2005)
Rev Neurol
, vol.40
, pp. 671-682
-
-
Benítez-Burraco, A.1
-
33
-
-
18344368187
-
FOXP2 is not a major susceptibility gene for autism or specific language impairment
-
Newbury DF, Bonora E, Lamb JA, Fisher SE, Lai, CSL, Baird G, et al. FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am J Hum Genet 2002; 70: 1318-27.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1318-1327
-
-
Newbury, D.F.1
Bonora, E.2
Lamb, J.A.3
Fisher, S.E.4
Lai, C.S.L.5
Baird, G.6
-
34
-
-
0037043075
-
Evaluation of FOXP2 as an autism susceptibility gene
-
Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE, et al. Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet 2002; 114: 566-9.
-
(2002)
Am J Med Genet
, vol.114
, pp. 566-569
-
-
Wassink, T.H.1
Piven, J.2
Vieland, V.J.3
Pietila, J.4
Goedken, R.J.5
Folstein, S.E.6
-
35
-
-
0037487188
-
Mutation screening of FOXP2 in individuals diagnosed with autistic disorder
-
Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, et al. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am J Med Genet 2003; 118A: 172-5.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 172-175
-
-
Gauthier, J.1
Joober, R.2
Mottron, L.3
Laurent, S.4
Fuchs, M.5
De Kimpe, V.6
-
36
-
-
11144357511
-
Association between the FOXP2 gene and autistic disorder in Chinese population
-
Gong X, Jia M, Ruan Y, Shuang M, Liu J, Wu S, et al. Association between the FOXP2 gene and autistic disorder in Chinese population. Am J Med Genet 2004; 127B: 113-6.
-
(2004)
Am J Med Genet
, vol.127 B
, pp. 113-116
-
-
Gong, X.1
Jia, M.2
Ruan, Y.3
Shuang, M.4
Liu, J.5
Wu, S.6
-
37
-
-
0038692088
-
Association of specific language impairment (SLI) to the region of 7q31
-
O'Brien EK, Zhang X, Nishimura C, Tomblin JB, Murray JC. Association of specific language impairment (SLI) to the region of 7q31. Am J Hum Genet 2003; 72: 1536-43.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1536-1543
-
-
O'Brien, E.K.1
Zhang, X.2
Nishimura, C.3
Tomblin, J.B.4
Murray, J.C.5
-
38
-
-
0033865944
-
The SPCH1 region on human 7q31: Genomic characterization of the critical interval and localization of translocations associated with speech and language disorder
-
Lai CS, Fisher SE, Hurst JA, Levy ER, Hodgson S, Fox M, et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet 2000; 67: 357-68.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 357-368
-
-
Lai, C.S.1
Fisher, S.E.2
Hurst, J.A.3
Levy, E.R.4
Hodgson, S.5
Fox, M.6
-
39
-
-
0034599736
-
Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31
-
Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S, et al. Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 2000; 96: 228-34.
-
(2000)
Am J Med Genet
, vol.96
, pp. 228-234
-
-
Warburton, P.1
Baird, G.2
Chen, W.3
Morris, K.4
Jacobs, B.W.5
Hodgson, S.6
-
40
-
-
4444238226
-
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH
-
Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH. Am J Med Genet 2004; 129A: 254-60.
-
(2004)
Am J Med Genet
, vol.129 A
, pp. 254-260
-
-
Tyson, C.1
McGillivray, B.2
Chijiwa, C.3
Rajcan-Separovic, E.4
-
41
-
-
34147120769
-
Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review
-
Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, et al. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet 2007; 143A: 791-8.
-
(2007)
Am J Med Genet
, vol.143 A
, pp. 791-798
-
-
Lennon, P.A.1
Cooper, M.L.2
Peiffer, D.A.3
Gunderson, K.L.4
Patel, A.5
Peters, S.6
-
42
-
-
0038746904
-
ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways
-
Battle MA, Maher VM, McCormick JJ. ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways. Biochemistry 2003; 42: 7270-82.
-
(2003)
Biochemistry
, vol.42
, pp. 7270-7282
-
-
Battle, M.A.1
Maher, V.M.2
McCormick, J.J.3
-
43
-
-
0033859129
-
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual
-
Vincent JB, Herbrick JA, Gurling HMD, Bolton PF, Roberts W, Scherer SW. Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 2000; 67: 510-4.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 510-514
-
-
Vincent, J.B.1
Herbrick, J.A.2
Gurling, H.M.D.3
Bolton, P.F.4
Roberts, W.5
Scherer, S.W.6
-
44
-
-
0036731660
-
The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system
-
Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, et al. The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system. Genomics 2002; 80: 283-94.
-
(2002)
Genomics
, vol.80
, pp. 283-294
-
-
Vincent, J.B.1
Petek, E.2
Thevarkunnel, S.3
Kolozsvari, D.4
Cheung, J.5
Patel, M.6
-
45
-
-
0030866899
-
Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1
-
Lijam N, Paylor R, McDonald MP, Crawley JN, Deng CX, Herrup K, et al. Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1. Cell 1997; 90: 895-905.
-
(1997)
Cell
, vol.90
, pp. 895-905
-
-
Lijam, N.1
Paylor, R.2
McDonald, M.P.3
Crawley, J.N.4
Deng, C.X.5
Herrup, K.6
-
46
-
-
70350211299
-
No association between the WNT2 gene and autistic disorder
-
McCoy PA, Shao Y, Wolpert CM, Donnelly SL, Ashley-Koch A, Abel HL, et al. No association between the WNT2 gene and autistic disorder. Am J Med Genet (Neuropsychiatr Genet) 2002; 114: 106-9.
-
(2002)
Am J Med Genet (Neuropsychiatr Genet)
, vol.114
, pp. 106-109
-
-
McCoy, P.A.1
Shao, Y.2
Wolpert, C.M.3
Donnelly, S.L.4
Ashley-Koch, A.5
Abel, H.L.6
-
47
-
-
1842591879
-
Lack of evidence for an association between WNT2 and RELN polymorphisms and autism
-
Li J, Nguyen L, Gleason C, Lotspeich L, Spiker D, Risch N, et al. Lack of evidence for an association between WNT2 and RELN polymorphisms and autism. Am J Med Genet (Neuropsychiatr Genet) 2004; 126B: 51-7.
-
(2004)
Am J Med Genet (Neuropsychiatr Genet)
, vol.126 B
, pp. 51-57
-
-
Li, J.1
Nguyen, L.2
Gleason, C.3
Lotspeich, L.4
Spiker, D.5
Risch, N.6
-
48
-
-
33750962208
-
A genetic variant that disrupts MET transcription is associated with autism
-
Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, et al. A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci U S A 2006; 103: 16834-9.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 16834-16839
-
-
Campbell, D.B.1
Sutcliffe, J.S.2
Ebert, P.J.3
Militerni, R.4
Bravaccio, C.5
Trillo, S.6
-
49
-
-
0034766845
-
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
-
Cheung J, Petek E, Nakabayashi K, Tsui LC, Vincent JB, Scherer SW. Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics 2001; 78: 7-11.
-
(2001)
Genomics
, vol.78
, pp. 7-11
-
-
Cheung, J.1
Petek, E.2
Nakabayashi, K.3
Tsui, L.C.4
Vincent, J.B.5
Scherer, S.W.6
-
51
-
-
0034162944
-
Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa)
-
Isbrandt D, Leicher T, Waldschutz R, Zhu X, Luhmann U, Michel U, et al. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(to) and I(sa). Genomics 2000; 64: 144-54.
-
(2000)
Genomics
, vol.64
, pp. 144-154
-
-
Isbrandt, D.1
Leicher, T.2
Waldschutz, R.3
Zhu, X.4
Luhmann, U.5
Michel, U.6
-
52
-
-
21444440293
-
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay
-
Kwasnicka-Crawford DA, Carson AR, Roberts W, Summers AM, Rehnstrom K, Jarvela I, et al. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics 2005; 86: 182-94.
-
(2005)
Genomics
, vol.86
, pp. 182-194
-
-
Kwasnicka-Crawford, D.A.1
Carson, A.R.2
Roberts, W.3
Summers, A.M.4
Rehnstrom, K.5
Jarvela, I.6
-
53
-
-
0035901942
-
The TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein
-
Tobias ES, Hurlstone AFL, MacKenzie E, McFarlane R, Black DM. The TES gene at 7q31.1 is methylated in tumours and encodes a novel growth-suppressing LIM domain protein. Oncogene 2001; 20: 2844-53.
-
(2001)
Oncogene
, vol.20
, pp. 2844-2853
-
-
Tobias, E.S.1
Hurlstone, A.F.L.2
MacKenzie, E.3
McFarlane, R.4
Black, D.M.5
-
54
-
-
0027219255
-
-
Zhao GQ, Zhao Q, Zhou X, Mattei MG, De Crombrugghe B. TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol Cell Biol 1993; 13: 4505-12.
-
Zhao GQ, Zhao Q, Zhou X, Mattei MG, De Crombrugghe B. TFEC, a basic helix-loop-helix protein, forms heterodimers with TFE3 and inhibits TFE3-dependent transcription activation. Mol Cell Biol 1993; 13: 4505-12.
-
-
-
-
55
-
-
0029169674
-
Association study with two markers of a human homeogene in infantile autism
-
Petit E, Herault J, Martineau J, Perrot A, Barthelemy C, Hameury L, et al. Association study with two markers of a human homeogene in infantile autism. J Med Genet 1995; 32: 269-74.
-
(1995)
J Med Genet
, vol.32
, pp. 269-274
-
-
Petit, E.1
Herault, J.2
Martineau, J.3
Perrot, A.4
Barthelemy, C.5
Hameury, L.6
-
56
-
-
3142523276
-
Association of the homeobox transcription factor, Engrailed 2, 3, with autism spectrum disorder
-
Gharani N, Benayed R, Mancuso V, Brzustowicz LM, Millonig JH. Association of the homeobox transcription factor, Engrailed 2, 3, with autism spectrum disorder. Mol Psychiatr 2004; 9: 474-84.
-
(2004)
Mol Psychiatr
, vol.9
, pp. 474-484
-
-
Gharani, N.1
Benayed, R.2
Mancuso, V.3
Brzustowicz, L.M.4
Millonig, J.H.5
-
57
-
-
27244454668
-
Support for the homeobox transcription factor gene Engrailed 2 as an autism spectrum disorder susceptibility locus
-
Benayed R, Gharani N, Rossman I, Mancuso V, Lazar G, Kamdar S, et al. Support for the homeobox transcription factor gene Engrailed 2 as an autism spectrum disorder susceptibility locus. Am J Hum Genet 2005; 77: 851-68.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 851-868
-
-
Benayed, R.1
Gharani, N.2
Rossman, I.3
Mancuso, V.4
Lazar, G.5
Kamdar, S.6
-
58
-
-
0027054925
-
Cloning and sequence comparison of the mouse, human, and chicken Engrailed genes reveal potential functional domains and regulatory regions
-
Logan C, Hanks MC, Noble-Topham S, Nallainathan D, Provart NJ, Joyner AL. Cloning and sequence comparison of the mouse, human, and chicken Engrailed genes reveal potential functional domains and regulatory regions. Dev Genet 1992; 13: 345-58.
-
(1992)
Dev Genet
, vol.13
, pp. 345-358
-
-
Logan, C.1
Hanks, M.C.2
Noble-Topham, S.3
Nallainathan, D.4
Provart, N.J.5
Joyner, A.L.6
-
59
-
-
0028325992
-
Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants
-
Millen KJ, Wurst W, Herrup K, Joyner AL. Abnormal embryonic cerebellar development and patterning of postnatal foliation in two mouse Engrailed-2 mutants. Development 1994; 120: 695-706.
-
(1994)
Development
, vol.120
, pp. 695-706
-
-
Millen, K.J.1
Wurst, W.2
Herrup, K.3
Joyner, A.L.4
-
60
-
-
0030826381
-
Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development
-
Kuemerle B, Zanjani H, Joyner A, Herrup K. Pattern deformities and cell loss in Engrailed-2 mutant mice suggest two separate patterning events during cerebellar development. J Neurosci 1997; 17: 7881-9.
-
(1997)
J Neurosci
, vol.17
, pp. 7881-7889
-
-
Kuemerle, B.1
Zanjani, H.2
Joyner, A.3
Herrup, K.4
-
61
-
-
0033168293
-
Selective disruption of 'late onset' sagittal banding patterns by ectopic expression of Engrailed-2 in cerebellar Purkinje cells
-
Baader SL, Vogel MW, Sanlioglu S, Zhang X, Oberdick J. Selective disruption of 'late onset' sagittal banding patterns by ectopic expression of Engrailed-2 in cerebellar Purkinje cells. J Neurosci 1999; 19: 5370-9.
-
(1999)
J Neurosci
, vol.19
, pp. 5370-5379
-
-
Baader, S.L.1
Vogel, M.W.2
Sanlioglu, S.3
Zhang, X.4
Oberdick, J.5
-
62
-
-
0000248735
-
Neuroanatomic observations of the brain in autism
-
Bauman ML, Kemper TL, eds, Baltimore: Johns Hopkins University Press;
-
Bauman ML, Kemper TL. Neuroanatomic observations of the brain in autism. In Bauman ML, Kemper TL, eds. The neurobiology of autism. Baltimore: Johns Hopkins University Press; 1994. p 119-45.
-
(1994)
The neurobiology of autism
, pp. 119-145
-
-
Bauman, M.L.1
Kemper, T.L.2
-
64
-
-
0023906645
-
Hypoplasia of cerebellar vermal lobules VI and VII in autism
-
Courchesne E, Yeung-Courchesne R, Press GA, Hesselink JR, Jernigan TL. Hypoplasia of cerebellar vermal lobules VI and VII in autism. N Engl J Med 1988; 318: 1349-54.
-
(1988)
N Engl J Med
, vol.318
, pp. 1349-1354
-
-
Courchesne, E.1
Yeung-Courchesne, R.2
Press, G.A.3
Hesselink, J.R.4
Jernigan, T.L.5
-
65
-
-
0035943033
-
Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study
-
Courchesne E, Karns CM, Davis HR, Ziccardi R, Carper RA, Tigue ZD, et al. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology 2001; 57: 245-54.
-
(2001)
Neurology
, vol.57
, pp. 245-254
-
-
Courchesne, E.1
Karns, C.M.2
Davis, H.R.3
Ziccardi, R.4
Carper, R.A.5
Tigue, Z.D.6
-
67
-
-
0026554483
-
Working memory
-
Baddeley A. Working memory. Science 1992; 255: 556-9.
-
(1992)
Science
, vol.255
, pp. 556-559
-
-
Baddeley, A.1
-
68
-
-
0036780698
-
A genomewide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27
-
Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T, et al. A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet 2002; 71: 777-90.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 777-790
-
-
Auranen, M.1
Vanhala, R.2
Varilo, T.3
Ayers, K.4
Kempas, E.5
Ylisaukko-Oja, T.6
-
69
-
-
0034982149
-
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity
-
Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E, et al. Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001; 68: 1514-20.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1514-1520
-
-
Buxbaum, J.D.1
Silverman, J.M.2
Smith, C.J.3
Kilifarski, M.4
Reichert, J.5
Hollander, E.6
-
70
-
-
18344374001
-
Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder
-
Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, Ashley-Koch AA, et al. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002; 70: 1058-61.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1058-1061
-
-
Shao, Y.1
Raiford, K.L.2
Wolpert, C.M.3
Cope, H.A.4
Ravan, S.A.5
Ashley-Koch, A.A.6
-
71
-
-
10744226187
-
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
-
Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, et al. Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Mol Psychiatr 2003; 8: 916-24.
-
(2003)
Mol Psychiatr
, vol.8
, pp. 916-924
-
-
Bacchelli, E.1
Blasi, F.2
Biondolillo, M.3
Lamb, J.A.4
Bonora, E.5
Barnby, G.6
-
72
-
-
0032545328
-
A family of cAMP-binding proteins that directly activate Rap1
-
Kawasaki H, Springett GM, Mochizuki N, Toki S, Nakaya M, Matsuda M, et al. A family of cAMP-binding proteins that directly activate Rap1. Science 1998; 282: 2275-9.
-
(1998)
Science
, vol.282
, pp. 2275-2279
-
-
Kawasaki, H.1
Springett, G.M.2
Mochizuki, N.3
Toki, S.4
Nakaya, M.5
Matsuda, M.6
-
73
-
-
0037371673
-
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
-
Shao Y, Cuccaro ML, Hauser ER, Raiford KL, Menold MM, Wolpert CM, et al. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet 2003; 72: 539-48.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 539-548
-
-
Shao, Y.1
Cuccaro, M.L.2
Hauser, E.R.3
Raiford, K.L.4
Menold, M.M.5
Wolpert, C.M.6
-
74
-
-
18344413881
-
Autism and maternally derived aberrations of chromosome 15q
-
Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998; 76: 327-36.
-
(1998)
Am J Med Genet
, vol.76
, pp. 327-336
-
-
Schroer, R.J.1
Phelan, M.C.2
Michaelis, R.C.3
Crawford, E.C.4
Skinner, S.A.5
Cuccaro, M.6
-
75
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997; 60: 928-34.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 928-934
-
-
Cook, E.H.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
-
76
-
-
0037766224
-
Mitochondrial dysfunction in autistic patients with 15q inverted duplication
-
Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, et al. Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol 2003; 53: 801-4.
-
(2003)
Ann Neurol
, vol.53
, pp. 801-804
-
-
Filipek, P.A.1
Juranek, J.2
Smith, M.3
Mays, L.Z.4
Ramos, E.R.5
Bocian, M.6
-
77
-
-
18244403202
-
A family with a grandmaternally derived interstitial duplication of proximal 15q
-
Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, et al. A family with a grandmaternally derived interstitial duplication of proximal 15q. Clin Genet 2001; 60: 421-30.
-
(2001)
Clin Genet
, vol.60
, pp. 421-430
-
-
Boyar, F.Z.1
Whitney, M.M.2
Lossie, A.C.3
Gray, B.A.4
Keller, K.L.5
Stalker, H.J.6
-
78
-
-
0031012849
-
-
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-3 [erratum: Nat Genet 1997; 15: 411].
-
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-3 [erratum: Nat Genet 1997; 15: 411].
-
-
-
-
79
-
-
0028964548
-
Clinical profile of Angelman syndrome at different ages
-
Buntinx IM, Hennekam, RCM, Brouwer OF, Stroink H, Beuten J, Mangelschots K, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 1995; 56: 176-83.
-
(1995)
Am J Med Genet
, vol.56
, pp. 176-183
-
-
Buntinx, I.M.1
Hennekam, R.C.M.2
Brouwer, O.F.3
Stroink, H.4
Beuten, J.5
Mangelschots, K.6
-
80
-
-
0031004012
-
Manifestations in institutionalised adults with Angelman syndrome due to deletion
-
Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. Manifestations in institutionalised adults with Angelman syndrome due to deletion. Am J Med Genet 1997; 70: 415-20.
-
(1997)
Am J Med Genet
, vol.70
, pp. 415-420
-
-
Sandanam, T.1
Beange, H.2
Robson, L.3
Woolnough, H.4
Buchholz, T.5
Smith, A.6
-
81
-
-
0032366023
-
A survey of expressive communication skills in children with Angelman syndrome
-
Alvares RL, Downing SF. A survey of expressive communication skills in children with Angelman syndrome. Am J Speech Lang Pathol 1998; 7: 14-24.
-
(1998)
Am J Speech Lang Pathol
, vol.7
, pp. 14-24
-
-
Alvares, R.L.1
Downing, S.F.2
-
82
-
-
33947184158
-
Speech sound disorder influenced by a locus in 15q14 region
-
Stein CM, Millard C, Kluge A, Miscimarra LE, Cartier KC, Freebairn LA, et al. Speech sound disorder influenced by a locus in 15q14 region. Behav Genet 2006; 36: 858-68.
-
(2006)
Behav Genet
, vol.36
, pp. 858-868
-
-
Stein, C.M.1
Millard, C.2
Kluge, A.3
Miscimarra, L.E.4
Cartier, K.C.5
Freebairn, L.A.6
-
83
-
-
0025173833
-
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
-
Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 1990; 35: 333-49.
-
(1990)
Am J Med Genet
, vol.35
, pp. 333-349
-
-
Magenis, R.E.1
Toth-Fejel, S.2
Allen, L.J.3
Black, M.4
Brown, M.G.5
Budden, S.6
-
84
-
-
0026353331
-
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
-
Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M, et al. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 1991; 49: 1219-34.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1219-1234
-
-
Robinson, W.P.1
Bottani, A.2
Yagang, X.3
Balakrishman, J.4
Binkert, F.5
Machler, M.6
-
85
-
-
0023135272
-
Adults with Prader-Willi syndrome: A survey of 232 cases
-
Greenswag LR. Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol 1987; 29: 145-52.
-
(1987)
Dev Med Child Neurol
, vol.29
, pp. 145-152
-
-
Greenswag, L.R.1
-
86
-
-
0031015938
-
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
-
Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997; 68: 433-40.
-
(1997)
Am J Med Genet
, vol.68
, pp. 433-440
-
-
Cassidy, S.B.1
Forsythe, M.2
Heeger, S.3
Nicholls, R.D.4
Schork, N.5
Benn, P.6
-
87
-
-
1442323876
-
Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy
-
Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004; 113: 565-73.
-
(2004)
Pediatrics
, vol.113
, pp. 565-573
-
-
Butler, M.G.1
Bittel, D.C.2
Kibiryeva, N.3
Talebizadeh, Z.4
Thompson, T.5
-
88
-
-
0032761073
-
Prevalence of speech delay in 6-year-old children and comorbidity with language impairment
-
Shriberg LD, Tomblin JB, McSweeny JL. Prevalence of speech delay in 6-year-old children and comorbidity with language impairment. J Speech Lang Hear Res 1999; 42: 1461-81.
-
(1999)
J Speech Lang Hear Res
, vol.42
, pp. 1461-1481
-
-
Shriberg, L.D.1
Tomblin, J.B.2
McSweeny, J.L.3
-
89
-
-
0035509699
-
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
-
Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet 2001; 10: 2687-700.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2687-2700
-
-
Runte, M.1
Huttenhofer, A.2
Gross, S.3
Kiefmann, M.4
Horsthemke, B.5
Buiting, K.6
-
90
-
-
0037098954
-
Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
-
Herzing LB, Cook EH, Ledbetter DH. Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Hum Mol Genet 2002; 11: 1707-18.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1707-1718
-
-
Herzing, L.B.1
Cook, E.H.2
Ledbetter, D.H.3
-
91
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997; 15: 74-7.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
-
92
-
-
0038584919
-
Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb
-
Kashiwagi A, Meguro M, Hoshiya H, Haruta M, Ishino F, Shibahara T, et al. Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb. J Hum Genet 2003; 48: 194-8.
-
(2003)
J Hum Genet
, vol.48
, pp. 194-198
-
-
Kashiwagi, A.1
Meguro, M.2
Hoshiya, H.3
Haruta, M.4
Ishino, F.5
Shibahara, T.6
-
93
-
-
0346449623
-
A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat
-
Dhar M, Webb LS, Smith L, Hauser L, Johnson D, West DB. A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat. Physiol Genomics 2000; 4: 93-100.
-
(2000)
Physiol Genomics
, vol.4
, pp. 93-100
-
-
Dhar, M.1
Webb, L.S.2
Smith, L.3
Hauser, L.4
Johnson, D.5
West, D.B.6
-
94
-
-
17344364660
-
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
-
Cook EH, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, et al. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 1998; 62: 1077-83.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1077-1083
-
-
Cook, E.H.1
Courchesne, R.Y.2
Cox, N.J.3
Lord, C.4
Gonen, D.5
Guter, S.J.6
-
95
-
-
37649026213
-
Genomic screen and follow-up analysis for autistic disorder
-
Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, et al. Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 2002; 114: 99-105.
-
(2002)
Am J Med Genet
, vol.114
, pp. 99-105
-
-
Shao, Y.1
Wolpert, C.M.2
Raiford, K.L.3
Menold, M.M.4
Donnelly, S.L.5
Ravan, S.A.6
-
96
-
-
0030977833
-
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): Case reports of 23 new patients
-
Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 1997; 99: 567-74.
-
(1997)
Pediatrics
, vol.99
, pp. 567-574
-
-
Gibson, K.M.1
Christensen, E.2
Jakobs, C.3
Fowler, B.4
Clarke, M.A.5
Hammersen, G.6
-
97
-
-
0038221058
-
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
-
Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003; 60: 1413-7.
-
(2003)
Neurology
, vol.60
, pp. 1413-1417
-
-
Pearl, P.L.1
Gibson, K.M.2
Acosta, M.T.3
Vezina, L.G.4
Theodore, W.H.5
Rogawski, M.A.6
-
98
-
-
0028895777
-
Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human: CDNA isolation, evolutionary homology, and tissue expression
-
Chambliss KL, Caudle DL, Hinson DD, Moomaw CR, Slaughter CA, Jakobs C, et al. Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human: cDNA isolation, evolutionary homology, and tissue expression. J Biol Chem 1995; 270: 461-7.
-
(1995)
J Biol Chem
, vol.270
, pp. 461-467
-
-
Chambliss, K.L.1
Caudle, D.L.2
Hinson, D.D.3
Moomaw, C.R.4
Slaughter, C.A.5
Jakobs, C.6
-
99
-
-
0032231363
-
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
-
Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet 1998; 63: 399-408.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 399-408
-
-
Chambliss, K.L.1
Hinson, D.D.2
Trettel, F.3
Malaspina, P.4
Novelletto, A.5
Jakobs, C.6
-
100
-
-
0942301435
-
A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5
-
Hsiung GYR, Kaplan BJ, Petryshen TL, Lu S, Field LL. A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5. Am J Med Genet 2004; 125B: 112-9.
-
(2004)
Am J Med Genet
, vol.125 B
, pp. 112-119
-
-
Hsiung, G.Y.R.1
Kaplan, B.J.2
Petryshen, T.L.3
Lu, S.4
Field, L.L.5
-
101
-
-
0037162696
-
Ras and Rap control AMPA receptor trafficking during synaptic plasticity
-
Zhu JJ, Qin Y, Zhao M, Van Aelst L, Malinow R. Ras and Rap control AMPA receptor trafficking during synaptic plasticity. Cell 2002; 110: 443-555.
-
(2002)
Cell
, vol.110
, pp. 443-555
-
-
Zhu, J.J.1
Qin, Y.2
Zhao, M.3
Van Aelst, L.4
Malinow, R.5
-
102
-
-
0030602650
-
Studies of the c-Harvey-Ras gene in psychiatric disorders
-
Comings DE, Wu S, Chiu C, Muhleman D, Sverd J. Studies of the c-Harvey-Ras gene in psychiatric disorders. Psychiatry Res 1996; 63: 25-32.
-
(1996)
Psychiatry Res
, vol.63
, pp. 25-32
-
-
Comings, D.E.1
Wu, S.2
Chiu, C.3
Muhleman, D.4
Sverd, J.5
-
103
-
-
0033836272
-
Cole-Hughes macrocephaly syndrome and associated autistic manifestations
-
Naqvi S, Cole T, Graham JM. Cole-Hughes macrocephaly syndrome and associated autistic manifestations. Am J Med Genet 2000; 94: 149-52.
-
(2000)
Am J Med Genet
, vol.94
, pp. 149-152
-
-
Naqvi, S.1
Cole, T.2
Graham, J.M.3
-
104
-
-
20244367771
-
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
-
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318-21.
-
(2005)
J Med Genet
, vol.42
, pp. 318-321
-
-
Butler, M.G.1
Dasouki, M.J.2
Zhou, X.P.3
Talebizadeh, Z.4
Brown, M.5
Takahashi, T.N.6
-
105
-
-
0036206130
-
Protean PTEN: Form and function
-
Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet 2002; 70: 829-44.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 829-844
-
-
Waite, K.A.1
Eng, C.2
-
106
-
-
0036637660
-
PTEN is essential for cell migration but not for fate determination and tumourigenesis in the cerebellum
-
Marino S, Krimpenfort P, Leung C, Van der Korput HA, Trapman J, Camenisch I, et al. PTEN is essential for cell migration but not for fate determination and tumourigenesis in the cerebellum. Development 2002; 129: 3513-22.
-
(2002)
Development
, vol.129
, pp. 3513-3522
-
-
Marino, S.1
Krimpenfort, P.2
Leung, C.3
Van der Korput, H.A.4
Trapman, J.5
Camenisch, I.6
-
107
-
-
33749984465
-
Defining language phenotypes in autism
-
Tager-Flusberg H. Defining language phenotypes in autism. Clin Neurosci Res 2006; 6: 219-24.
-
(2006)
Clin Neurosci Res
, vol.6
, pp. 219-224
-
-
Tager-Flusberg, H.1
-
108
-
-
0031660046
-
Nonword repetition and child language impairment
-
Dollaghan C, Campbell TF. Nonword repetition and child language impairment. J Speech Lang Hear Res 1998; 41: 1136-46.
-
(1998)
J Speech Lang Hear Res
, vol.41
, pp. 1136-1146
-
-
Dollaghan, C.1
Campbell, T.F.2
-
109
-
-
0004899128
-
Phonological memory deficits in language disordered children. Is there a casual connection?
-
Gathercole SE, Baddeley AD. Phonological memory deficits in language disordered children. Is there a casual connection? J Mem Lang 1990; 29: 336-60.
-
(1990)
J Mem Lang
, vol.29
, pp. 336-360
-
-
Gathercole, S.E.1
Baddeley, A.D.2
-
110
-
-
12944266839
-
Barking up the wrong tree? Lexical ambiguity resolution in children with language impairments and autistic spectrum disorders
-
Norbury CF. Barking up the wrong tree? Lexical ambiguity resolution in children with language impairments and autistic spectrum disorders. J Exp Child Psychol 1995; 90: 142-71.
-
(1995)
J Exp Child Psychol
, vol.90
, pp. 142-171
-
-
Norbury, C.F.1
-
111
-
-
0036638084
-
Inferential processing and story recall in children with communication problems: A comparison of specific language impairment, pragmatic language impairment and high functioning autism
-
Norbury CF, Bishop DVM. Inferential processing and story recall in children with communication problems: a comparison of specific language impairment, pragmatic language impairment and high functioning autism. Int J Lang Commun Disord 2002; 37: 227-51.
-
(2002)
Int J Lang Commun Disord
, vol.37
, pp. 227-251
-
-
Norbury, C.F.1
Bishop, D.V.M.2
-
112
-
-
0038824826
-
Narrative skills of children with communication impairments
-
Norbury CF, Bishop DVM. Narrative skills of children with communication impairments. Int J Lang Commun Disord 2003; 38: 287-313.
-
(2003)
Int J Lang Commun Disord
, vol.38
, pp. 287-313
-
-
Norbury, C.F.1
Bishop, D.V.M.2
-
113
-
-
0025892384
-
Cerebral structure on magnetic resonance imaging in language- and learning-impaired children
-
Jernigan TL, Hesselink JR, Sowell E, Tallal PA. Cerebral structure on magnetic resonance imaging in language- and learning-impaired children. Arch Neurol 1991; 48: 539-45.
-
(1991)
Arch Neurol
, vol.48
, pp. 539-545
-
-
Jernigan, T.L.1
Hesselink, J.R.2
Sowell, E.3
Tallal, P.A.4
-
114
-
-
0025883542
-
MRI findings in boys with specific language impairment
-
Plante E, Swisher L, Vance R, Rapcsak S. MRI findings in boys with specific language impairment. Brain Lang 1991; 41: 52-66.
-
(1991)
Brain Lang
, vol.41
, pp. 52-66
-
-
Plante, E.1
Swisher, L.2
Vance, R.3
Rapcsak, S.4
-
115
-
-
0036830197
-
Abnormal asymmetry in language association cortex in autism
-
Herbert MR, Harris GJ, Adrien KT, Ziegler DA, Makris N, Kennedy DN, et al. Abnormal asymmetry in language association cortex in autism. Ann Neurol 2002; 52: 588-96.
-
(2002)
Ann Neurol
, vol.52
, pp. 588-596
-
-
Herbert, M.R.1
Harris, G.J.2
Adrien, K.T.3
Ziegler, D.A.4
Makris, N.5
Kennedy, D.N.6
-
116
-
-
9644291755
-
Language-association cortex asymmetry in autism and specific language impairment
-
De Fossé L, Hodge SM, Makris N, Kennedy DN, Caviness VS, Mc-Grath L, et al. Language-association cortex asymmetry in autism and specific language impairment. Ann Neurol 2004; 56: 757-66.
-
(2004)
Ann Neurol
, vol.56
, pp. 757-766
-
-
De Fossé, L.1
Hodge, S.M.2
Makris, N.3
Kennedy, D.N.4
Caviness, V.S.5
Mc-Grath, L.6
-
117
-
-
0030799999
-
Personality and language characteristics in parents from multiple incidence autism families
-
Piven J, Palmer P, Landa R, Santangelo S, Jacobi D, Childress D. Personality and language characteristics in parents from multiple incidence autism families. Am J Med Genet 1997; 74: 398-411.
-
(1997)
Am J Med Genet
, vol.74
, pp. 398-411
-
-
Piven, J.1
Palmer, P.2
Landa, R.3
Santangelo, S.4
Jacobi, D.5
Childress, D.6
-
119
-
-
0037810516
-
Autism and autism risk in siblings of children with specific language impairment
-
Tomblin JB, Hafeman L, O'Brien M. Autism and autism risk in siblings of children with specific language impairment. Int J Lang Commun Disord 2003; 38: 235-50.
-
(2003)
Int J Lang Commun Disord
, vol.38
, pp. 235-250
-
-
Tomblin, J.B.1
Hafeman, L.2
O'Brien, M.3
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