-
1
-
-
0003430233
-
-
10th ed. American Association on Mental Retardation, Washington, DC
-
Luckasson R, Borthwick-Duffy S, Buntinx W H E, Coulter DL, Craig PM, et al: Mental retardation: definition, classification, and systems of supports, 10th ed. (American Association on Mental Retardation, Washington, DC, 2002).
-
(2002)
Mental Retardation: Definition, Classification, and Systems of Supports
-
-
Luckasson, R.1
Borthwick-Duffy, S.2
Buntinx, W.H.E.3
Coulter, D.L.4
Craig, P.M.5
-
3
-
-
0004235298
-
-
American Psychiatric Association:, 4th ed., text revision American Psychiatric Association, Washington DC
-
American Psychiatric Association: Diagnostic and statistical manual of mental disorders DSM-IV-TR, 4th ed., text revision (American Psychiatric Association, Washington DC, 2000).
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR
-
-
-
4
-
-
33745818375
-
Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP)
-
DOI 10.1016/S0140-6736(06)69041-7, PII S0140673606690417
-
Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Charman T: Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006;368:210-215. (Pubitemid 44037796)
-
(2006)
Lancet
, vol.368
, Issue.9531
, pp. 210-215
-
-
Baird, G.1
Simonoff, E.2
Pickles, A.3
Chandler, S.4
Loucas, T.5
Meldrum, D.6
Charman, T.7
-
5
-
-
20044390596
-
Pervasive developmental disorders in preschool children: Confirmation of high prevalence
-
DOI 10.1176/appi.ajp.162.6.1133
-
Chakrabarti S, Fombonne E: Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry 2005;162:1133-1141. (Pubitemid 40770696)
-
(2005)
American Journal of Psychiatry
, vol.162
, Issue.6
, pp. 1133-1141
-
-
Chakrabarti, S.1
Fombonne, E.2
-
6
-
-
0029082109
-
Symptoms, signs, and diagnosis of schizophrenia
-
Andreasen NC: Symptoms, signs, and diagnosis of schizophrenia. Lancet 1995;346:477-481.
-
(1995)
Lancet
, vol.346
, pp. 477-481
-
-
Andreasen, N.C.1
-
7
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
DOI 10.1016/S0140-6736(07)61601-8, PII S0140673607616018
-
Kobrynski LJ, Sullivan KE: Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007;370:1443-1452. (Pubitemid 47576169)
-
(2007)
Lancet
, vol.370
, Issue.9596
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
8
-
-
35348965707
-
From microscopes to microarrays: Dissecting recurrent chromosomal rearrangements
-
DOI 10.1038/nrg2136, PII NRG2136
-
Emanuel BS, Saitta SC: From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet 2007;8:869-883. (Pubitemid 47609084)
-
(2007)
Nature Reviews Genetics
, vol.8
, Issue.11
, pp. 869-883
-
-
Emanuel, B.S.1
Saitta, S.C.2
-
9
-
-
33646733029
-
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
-
Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, et al: Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA 2006;103:7729-7734.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 7729-7734
-
-
Paylor, R.1
Glaser, B.2
Mupo, A.3
Ataliotis, P.4
Spencer, C.5
-
10
-
-
61649100746
-
Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
-
Koolen DA, Pfundt R, De Leeuw N, Hehir-Kwa JY, Nillesen WM, et al: Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009;30:283-292.
-
(2009)
Hum Mutat
, vol.30
, pp. 283-292
-
-
Koolen, D.A.1
Pfundt, R.2
De Leeuw, N.3
Hehir-Kwa, J.Y.4
Nillesen, W.M.5
-
11
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, 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
Lionel, A.C.4
Feuk, L.5
-
13
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Stone JL, O'Donovan MC, Gurling H, Kirov GK, Blackwood DH, et al: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008;455:237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
Stone, J.L.1
O'Donovan, M.C.2
Gurling, H.3
Kirov, G.K.4
Blackwood, D.H.5
-
14
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
DOI 10.1038/ng.162, PII NG162
-
Xu B, Roos JL, Levy S, Van Rensburg EJ, Gogos JA, Karayiorgou M: Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008;40:880-885. (Pubitemid 351913650)
-
(2008)
Nature Genetics
, vol.40
, Issue.7
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
Van Rensburg, E.J.4
Gogos, J.A.5
Karayiorgou, M.6
-
15
-
-
44149093809
-
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
-
DOI 10.1002/ddrr.3
-
Emanuel BS: Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev 2008;14:11-18. (Pubitemid 351716518)
-
(2008)
Developmental Disabilities Research Reviews
, vol.14
, Issue.1
, pp. 11-18
-
-
Emanuel, B.S.1
-
16
-
-
34548185218
-
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations
-
DOI 10.1038/sj.ejhg.5201859, PII 5201859
-
Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, et al: Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotypephenotype correlations. Eur J Hum Genet 2007;15:943-949. (Pubitemid 47308470)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.9
, pp. 943-949
-
-
Sahoo, T.1
Bacino, C.A.2
German, J.R.3
Shaw, C.A.4
Bird, L.M.5
Kimonis, V.6
Anselm, I.7
Waisbren, S.8
Beaudet, A.L.9
Peters, S.U.10
-
17
-
-
69849090240
-
Fragile X syndrome: From molecular genetics to therapy
-
D'Hulst C, Kooy RF: Fragile X syndrome: from molecular genetics to therapy. J Med Genet 2009;46:577-584.
-
(2009)
J Med Genet
, vol.46
, pp. 577-584
-
-
D'Hulst, C.1
Kooy, R.F.2
-
18
-
-
37049027161
-
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly
-
DOI 10.1002/humu.20594
-
Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, et al: MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly. Hum Mutat 2007;28:1189-1197. (Pubitemid 350250383)
-
(2007)
Human Mutation
, vol.28
, Issue.12
, pp. 1189-1197
-
-
Bendavid, C.1
Dubourg, C.2
Pasquier, L.3
Gicquel, I.4
Le Gallou, S.5
Mottier, S.6
Durou, M.-R.7
Henry, C.8
Odent, S.9
David, V.10
-
19
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook Jr EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, et al: Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997;60:928-934. (Pubitemid 27146502)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.4
, pp. 928-934
-
-
Cook Jr., E.H.1
Lindgren, V.2
Leventhal, B.L.3
Courchesne, R.4
Lincoln, A.5
Shulman, C.6
Lord, C.7
Courchesne, E.8
-
20
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
DOI 10.1038/ng.93, PII NG93
-
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, et al: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322-328. (Pubitemid 351311774)
-
(2008)
Nature Genetics
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.L.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
21
-
-
68049129849
-
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
-
Van Bon B W M, Mefford HC, Menten B, Koolen DA, Sharp AJ, et al: Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009;46:511-523.
-
(2009)
J Med Genet
, vol.46
, pp. 511-523
-
-
Van Bon, B.W.M.1
Mefford, H.C.2
Menten, B.3
Koolen, D.A.4
Sharp, A.J.5
-
22
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, et al: Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietilainen, O.P.4
Ingason, A.5
-
23
-
-
67349176356
-
A 15q13.3 microdeletion segregating with autism
-
Pagnamenta AT, Wing K, Akha ES, Knight SJ, Bolte S, et al: A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet 2009;17:687-692.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 687-692
-
-
Pagnamenta, A.T.1
Wing, K.2
Akha, E.S.3
Knight, S.J.4
Bolte, S.5
-
24
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
DOI 10.1086/510919
-
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, et al: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopeniaabsent radius syndrome. Am J Hum Genet 2007;80:232-240. (Pubitemid 46175672)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.2
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.-E.4
Hall, J.5
Trotier, F.6
Fleischhauer, S.7
Greenhalgh, L.8
Newbury-Ecob, R.A.9
Neumann, L.M.10
Habenicht, R.11
Konig, R.12
Seemanova, E.13
Megarbane, A.14
Ropers, H.-H.15
Ullmann, R.16
Horn, D.17
Mundlos, S.18
-
25
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685-1699.
-
(2008)
N Engl J Med
, vol.359
, pp. 1685-1699
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
Itsara, A.4
Jiang, Z.5
-
26
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
DOI 10.1038/ng1985, PII NG1985
-
Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, et al: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-328. (Pubitemid 46328498)
-
(2007)
Nature Genetics
, vol.39
, Issue.3
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
Liu, X.-Q.6
Vincent, J.B.7
Skaug, J.L.8
Thompson, A.P.9
Senman, L.10
Feuk, L.11
Qian, C.12
Bryson, S.E.13
Jones, M.B.14
Marshall, C.R.15
Scherer, S.W.16
Vieland, V.J.17
Bartlett, C.18
Mangin, L.V.19
Goedken, R.20
Segre, A.21
Pericak-Vance, M.A.22
Cuccaro, M.L.23
Gilbert, J.R.24
Wright, H.H.25
Abramson, R.K.26
Betancur, C.27
Bourgeron, T.28
Gillberg, C.29
Leboyer, M.30
Buxbaum, J.D.31
Davis, K.L.32
Hollander, E.33
Silverman, J.M.34
Hallmayer, J.35
Lotspeich, L.36
Sutcliffe, J.S.37
Haines, J.L.38
Folstein, S.E.39
Piven, J.40
Wassink, T.H.41
Sheffield, V.42
Geschwind, D.H.43
Bucan, M.44
Brown, W.T.45
Cantor, R.M.46
Constantino, J.N.47
Gilliam, T.C.48
Herbert, M.49
LaJonchere, C.50
Ledbetter, D.H.51
Lese-Martin, C.52
Miller, J.53
Nelson, S.54
Samango-Sprouse, C.A.55
Spence, S.56
State, M.57
Tanzi, R.E.58
Coon, H.59
Dawson, G.60
Devlin, B.61
Estes, A.62
Flodman, P.63
Klei, L.64
McMahon, W.M.65
Minshew, N.66
Munson, J.67
Korvatska, E.68
Rodier, P.M.69
Schellenberg, G.D.70
Smith, M.71
Spence, M.A.72
Stodgell, C.73
Tepper, P.G.74
Wijsman, E.M.75
Yu, C.-E.76
Roge, B.77
Mantoulan, C.78
Wittemeyer, K.79
Poustka, A.80
Felder, B.81
Klauck, S.M.82
Schuster, C.83
Poustka, F.84
Bolte, S.85
Feineis-Matthews, S.86
Herbrecht, E.87
Schmotzer, G.88
Tsiantis, J.89
Papanikolaou, K.90
Maestrini, E.91
more..
-
27
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
DOI 10.1126/science.1155174
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, 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..
-
28
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
DOI 10.1056/NEJMoa075974
-
Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, 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..
-
29
-
-
34548339637
-
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
-
DOI 10.1038/ng2107, PII NG2107
-
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, et al: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 2007;39:1071-1073. (Pubitemid 47340655)
-
(2007)
Nature Genetics
, vol.39
, Issue.9
, pp. 1071-1073
-
-
Ballif, B.C.1
Hornor, S.A.2
Jenkins, E.3
Madan-Khetarpal, S.4
Surti, U.5
Jackson, K.E.6
Asamoah, A.7
Brock, P.L.8
Gowans, G.C.9
Conway, R.L.10
Graham Jr., J.M.11
Medne, L.12
Zackai, E.H.13
Shaikh, T.H.14
Geoghegan, J.15
Selzer, R.R.16
Eis, P.S.17
Bejjani, B.A.18
Shaffer, L.G.19
-
30
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
DOI 10.1093/hmg/ddm376
-
Kumar RA, Kara Mohamed S, Sudi J, Conrad DF, Brune C, 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
-
31
-
-
44349186162
-
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
-
Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, et al: Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 2008;63:1111-1117.
-
(2008)
Biol Psychiatry
, vol.63
, pp. 1111-1117
-
-
Christian, S.L.1
Brune, C.W.2
Sudi, J.3
Kumar, R.A.4
Liu, S.5
-
32
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
DOI 10.1126/science.1138659
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, 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..
-
33
-
-
34447329548
-
A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
-
DOI 10.1002/ajmg.a.31837
-
Ghebranious N, Giampietro PF, Wesbrook FP, Rezkalla SH: A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet 2007;143 A: 1462-1471. (Pubitemid 47051025)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.13
, pp. 1462-1471
-
-
Ghebranious, N.1
Giampietro, P.F.2
Wesbrook, F.P.3
Rezkalla, S.H.4
-
34
-
-
20644443891
-
Dissection of synapse induction by neuroligins: Effect of a neuroligin mutation associated with autism
-
DOI 10.1074/jbc.M410723200
-
Chubykin AA, Liu X, Comoletti D, Tsigelny I, Taylor P, Sudhof TC: Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. J Biol Chem 2005;280:22365-22374. (Pubitemid 40834299)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.23
, pp. 22365-22374
-
-
Chubykin, A.A.1
Liu, X.2
Comoletti, D.3
Tsigelny, I.4
Taylor, P.5
Sudhof, T.C.6
-
35
-
-
33750079257
-
High frequency of neurexin 1β signal peptide structural variants in patients with autism
-
DOI 10.1016/j.neulet.2006.08.017, PII S0304394006008172
-
Feng J, Schroer R, Yan J, Song W, Yang C, et al: High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 2006;409:10-13. (Pubitemid 44585112)
-
(2006)
Neuroscience Letters
, vol.409
, Issue.1
, pp. 10-13
-
-
Feng, J.1
Schroer, R.2
Yan, J.3
Song, W.4
Yang, C.5
Bockholt, A.6
Cook Jr., E.H.7
Skinner, C.8
Schwartz, C.E.9
Sommer, S.S.10
-
36
-
-
42049091624
-
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
-
DOI 10.1136/jmg.2007.054437
-
Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes ND, et al: A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. J Med Genet 2008;45:239-243. (Pubitemid 351518730)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.4
, pp. 239-243
-
-
Zahir, F.R.1
Baross, A.2
Delaney, A.D.3
Eydoux, P.4
Fernandes, N.D.5
Pugh, T.6
Marra, M.A.7
Friedman, J.M.8
-
37
-
-
33748644928
-
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
-
DOI 10.1086/507471
-
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, et al: Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006;79:500-513. (Pubitemid 44384259)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 500-513
-
-
Friedman, J.M.1
Baross, A.2
Delaney, A.D.3
Ally, A.4
Arbour, L.5
Asano, J.6
Bailey, D.K.7
Barber, S.8
Birch, P.9
Brown-John, M.10
Cao, M.11
Chan, S.12
Charest, D.L.13
Farnoud, N.14
Fernandes, N.15
Flibotte, S.16
Go, A.17
Gibson, W.T.18
Holt, R.A.19
Jones, S.J.M.20
Kennedy, G.C.21
Krzywinski, M.22
Langlois, S.23
Li, H.I.24
McGillivray, B.C.25
Nayar, T.26
Pugh, T.J.27
Rajcan-Separovic, E.28
Schein, J.E.29
Schnerch, A.30
Siddiqui, A.31
Van Allen, M.I.32
Wilson, G.33
Yong, S.-L.34
Zahir, F.35
Eydoux, P.36
Marra, M.A.37
more..
-
38
-
-
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 A J M H, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA: 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
-
39
-
-
34249722774
-
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
-
DOI 10.1038/sj.ejhg.5201824, PII 5201824
-
Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, et al: Disruption of the CNTNAP2 gene in a t (7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 2007;15:711-713. (Pubitemid 46825060)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.6
, pp. 711-713
-
-
Belloso, J.M.1
Bache, I.2
Guitart, M.3
Caballin, M.R.4
Halgren, C.5
Kirchhoff, M.6
Ropers, H.-H.7
Tommerup, N.8
Tumer, Z.9
-
40
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactin-associated proteinlike 2
-
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, et al: Recessive symptomatic focal epilepsy and mutant contactin-associated proteinlike 2. N Engl J Med 2006;354:1370-1377.
-
(2006)
N Engl J Med
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
Gottlieb, S.4
Dobrin, S.E.5
-
41
-
-
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, Duvall JA, Perederiy JV, 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
-
42
-
-
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, Gupta AR, Abelson JF, 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
-
43
-
-
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, Teslovich TM, West K, 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
-
44
-
-
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, Janssen IM, Van der Vliet WA, 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
-
45
-
-
30144442771
-
Common fragile sites, extremely large genes, neural development and cancer
-
DOI 10.1016/j.canlet.2005.06.049, PII S0304383505008232
-
Smith DI, Zhu Y, McAvoy S, Kuhn R: Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett 2005;232:48-57. (Pubitemid 43053933)
-
(2006)
Cancer Letters
, vol.232
, Issue.1
, pp. 48-57
-
-
Smith, D.I.1
Zhu, Y.2
McAvoy, S.3
Kuhn, R.4
-
46
-
-
38349186895
-
Replication stress induces tumor-like microdeletions in FHIT/FRA3B
-
Durkin SG, Ragland RL, Arlt MF, Mulle JG, Warren ST, Glover TW: Replication stress induces tumor-like microdeletions in FHIT/FRA3B. Proc Natl Acad Sci USA 2007;105:246-251.
-
(2007)
Proc Natl Acad Sci USA
, vol.105
, pp. 246-251
-
-
Durkin, S.G.1
Ragland, R.L.2
Arlt, M.F.3
Mulle, J.G.4
Warren, S.T.5
Glover, T.W.6
-
47
-
-
38449093969
-
Fragile sites and human disease
-
Debacker K, Kooy RF: Fragile sites and human disease. Hum Mol Genet 2007;16:R150-R158.
-
(2007)
Hum Mol Genet
, vol.16
-
-
Debacker, K.1
Kooy, R.F.2
-
48
-
-
59149096726
-
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
-
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, et al:15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009;41:160-162.
-
(2009)
Nat Genet
, vol.41
, pp. 160-162
-
-
Helbig, I.1
Mefford, H.C.2
Sharp, A.J.3
Guipponi, M.4
Fichera, M.5
-
49
-
-
0034809237
-
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
-
DOI 10.1007/s004390100585
-
Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 2001;109:286-294. (Pubitemid 32926923)
-
(2001)
Human Genetics
, vol.109
, Issue.3
, pp. 286-294
-
-
Riegel, M.1
Baumer, A.2
Jamar, M.3
Delbecque, K.4
Herens, C.5
Verloes, A.6
Schinzel, A.7
-
50
-
-
2442641704
-
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
-
DOI 10.1086/421474
-
Fernandez T, Morgan T, Davis N, Klin A, Morris A, et al: Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 2004;74:1286-1293. (Pubitemid 38669329)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.6
, pp. 1286-1293
-
-
Fernandez, T.1
Morgan, T.2
Davis, N.3
Klin, A.4
Morris, A.5
Farhi, A.6
Lifton, R.P.7
State, M.W.8
-
51
-
-
57149090343
-
A functional genetic link between distinct developmental language disorders
-
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, et al: A functional genetic link between distinct developmental language disorders. N Engl J Med 2008;359:2337-2345.
-
(2008)
N Engl J Med
, vol.359
, pp. 2337-2345
-
-
Vernes, S.C.1
Newbury, D.F.2
Abrahams, B.S.3
Winchester, L.4
Nicod, J.5
-
52
-
-
54049106103
-
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
-
Ramocki MB, Zoghbi HY: Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature 2008;455:912-918.
-
(2008)
Nature
, vol.455
, pp. 912-918
-
-
Ramocki, M.B.1
Zoghbi, H.Y.2
-
53
-
-
33746514973
-
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
-
DOI 10.1086/506371
-
Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, et al: Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 2006;79:332-341. (Pubitemid 44141831)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.2
, pp. 332-341
-
-
Merla, G.1
Howald, C.2
Henrichsen, C.N.3
Lyle, R.4
Wyss, C.5
Zabot, M.-T.6
Antonarakis, S.E.7
Reymond, A.8
-
54
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa N, Rooms L, Van De Weyer G, Van Den Ende J, Reyniers E, et al: Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009;52:94-100.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 94-100
-
-
Van Der Aa, N.1
Rooms, L.2
Van De Weyer, G.3
Van Den Ende, J.4
Reyniers, E.5
-
56
-
-
61649100746
-
Genomic microarrays in mental retardation: A practical workflow for diagnostic applications
-
Koolen DA, Pfundt R, De Leeuw N, Hehir-Kwa JY, Nillesen WM, et al: Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum Mutat 2009;30:283-292.
-
(2009)
Hum Mutat
, vol.30
, pp. 283-292
-
-
Koolen, D.A.1
Pfundt, R.2
De Leeuw, N.3
Hehir-Kwa, J.Y.4
Nillesen, W.M.5
-
57
-
-
0034927366
-
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
-
DOI 10.1086/321293
-
Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O: 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 2001;69:261-268. (Pubitemid 32695199)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.2
, pp. 261-268
-
-
Bonaglia, M.C.1
Giorda, R.2
Borgatti, R.3
Felisari, G.4
Gagliardi, C.5
Selicorni, A.6
Zuffardi, O.7
-
58
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
DOI 10.1038/ng1933, PII NG1933
-
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, et al: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007;39:25-27. (Pubitemid 46026497)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
Bockmann, J.4
Chaste, P.5
Fauchereau, F.6
Nygren, G.7
Rastam, M.8
Gillberg, I.C.9
Anckarsater, H.10
Sponheim, E.11
Goubran-Botros, H.12
Delorme, R.13
Chabane, N.14
Mouren-Simeoni, M.-C.15
De Mas, P.16
Bieth, E.17
Roge, B.18
Heron, D.19
Burglen, L.20
Gillberg, C.21
Leboyer, M.22
Bourgeron, T.23
more..
-
59
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al: Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477-88.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
-
60
-
-
36749040875
-
Contribution of SHANK3 mutations to autism spectrum disorder
-
DOI 10.1086/522590
-
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, et al: Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007;81:1289-97. (Pubitemid 350211458)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.6
, pp. 1289-1297
-
-
Moessner, R.1
Marshall, C.R.2
Sutcliffe, J.S.3
Skaug, J.4
Pinto, D.5
Vincent, J.6
Zwaigenbaum, L.7
Fernandez, B.8
Roberts, W.9
Szatmari, P.10
Scherer, S.W.11
-
61
-
-
70349610083
-
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
-
Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, et al: Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 2009;17:1347-1353.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1347-1353
-
-
Sykes, N.H.1
Toma, C.2
Wilson, N.3
Volpi, E.V.4
Sousa, I.5
|