-
1
-
-
0001447853
-
Supravalvular aortic stenosis in association with mental retardation and certain facial appearance
-
Beuren J, Apitz J, Harmjantz D, (1962) Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation 26: 1235-1240.
-
(1962)
Circulation
, vol.26
, pp. 1235-1240
-
-
Beuren, J.1
Apitz, J.2
Harmjantz, D.3
-
2
-
-
0025070995
-
Williams syndrome professional symposium
-
Greenberg F, (1990) Williams syndrome professional symposium. Am J Med Genet 6: 85-88.
-
(1990)
Am J Med Genet
, vol.6
, pp. 85-88
-
-
Greenberg, F.1
-
5
-
-
0031945026
-
High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions
-
Baumer A, Dutly F, Balmer D, Riegel M, Tukel T, et al. (1998) High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions. Hum Mol Genet 7: 887-894.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 887-894
-
-
Baumer, A.1
Dutly, F.2
Balmer, D.3
Riegel, M.4
Tukel, T.5
-
6
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart AK, Morris CA, Atkinson D, Weishan J, Sternes K, et al. (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5: 11-15.
-
(1993)
Nat Genet
, vol.5
, pp. 11-15
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.3
Weishan, J.4
Sternes, K.5
-
7
-
-
0032837598
-
Williams syndrome: genes and mechanisms
-
Francke U, (1999) Williams syndrome: genes and mechanisms. Hum Mol Genet 8: 1947-1954.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1947-1954
-
-
Francke, U.1
-
8
-
-
0036141877
-
Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome
-
DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, et al. (2002) Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. Genome Res 12: 3-15.
-
(2002)
Genome Res
, vol.12
, pp. 3-15
-
-
DeSilva, U.1
Elnitski, L.2
Idol, J.R.3
Doyle, J.L.4
Gan, W.5
-
9
-
-
0012458112
-
Towards a complete transcription map of the Williams-Beuren deletion region
-
Magano LF, Bayés M, Flores R, Pérez-Jurado L, (2001) Towards a complete transcription map of the Williams-Beuren deletion region. Eur J Hum Genet 9 (Suppl.): 244.
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.SUPPL.
, pp. 244
-
-
Magano, L.F.1
Bayés, M.2
Flores, R.3
Pérez-Jurado, L.4
-
10
-
-
0033939577
-
A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome deletion region at 7q11.23
-
Peoples R, Franke Y, Wang YK, Pérez-Jurado L, Paperna T, et al. (2000) A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome deletion region at 7q11.23. Am J Hum Genet 66: 47-68.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 47-68
-
-
Peoples, R.1
Franke, Y.2
Wang, Y.K.3
Pérez-Jurado, L.4
Paperna, T.5
-
11
-
-
0027403375
-
The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
-
Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, et al. (1993) The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73: 159-168.
-
(1993)
Cell
, vol.73
, pp. 159-168
-
-
Curran, M.E.1
Atkinson, D.L.2
Ewart, A.K.3
Morris, C.A.4
Leppert, M.F.5
-
12
-
-
17744365741
-
Elastin: mutational spectrum in supravalvular aortic stenosis
-
Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, et al. (2000) Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8: 955-963.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 955-963
-
-
Metcalfe, K.1
Rucka, A.K.2
Smoot, L.3
Hofstadler, G.4
Tuzler, G.5
-
13
-
-
0029145430
-
A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis
-
Olson TM, Michels VV, Urban Z, Csiszar K, Christiano AM, et al. (1995) A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 4: 1677-1679.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1677-1679
-
-
Olson, T.M.1
Michels, V.V.2
Urban, Z.3
Csiszar, K.4
Christiano, A.M.5
-
14
-
-
0031833314
-
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa
-
Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, et al. (1998) An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum mol genet 7: 1021-1028.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1021-1028
-
-
Tassabehji, M.1
Metcalfe, K.2
Hurst, J.3
Ashcroft, G.S.4
Kielty, C.5
-
15
-
-
33847271581
-
An atypical deletion of the Williams-Beuren Syndrome interval implicates genes associated with defective visuospatial processing and autism
-
Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, et al. (2007) An atypical deletion of the Williams-Beuren Syndrome interval implicates genes associated with defective visuospatial processing and autism. J Med Genet 44 (2): 136-143.
-
(2007)
J Med Genet
, vol.44
, Issue.2
, pp. 136-143
-
-
Edelmann, L.1
Prosnitz, A.2
Pardo, S.3
Bhatt, J.4
Cohen, N.5
-
16
-
-
0038728033
-
Mutational mechanisms of Williams-Beuren syndromes deletions
-
Bayés M, Magano LF, Rivera N, Flores R, Pérez Jurado LA, (2003) Mutational mechanisms of Williams-Beuren syndromes deletions. Am J Hum Genet 73: 131-151.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 131-151
-
-
Bayés, M.1
Magano, L.F.2
Rivera, N.3
Flores, R.4
Pérez Jurado, L.A.5
-
17
-
-
15844375659
-
LIM-kinase1 Hemizygosity implicated in impaired visuospatial constructive cognition
-
Frangiskakis J-M, Ewart AK, Morris CA, Mervis CB, Bertrand J, et al. (1996) LIM-kinase1 Hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86: 59-69.
-
(1996)
Cell
, vol.86
, pp. 59-69
-
-
Frangiskakis, J.-M.1
Ewart, A.K.2
Morris, C.A.3
Mervis, C.B.4
Bertrand, J.5
-
18
-
-
33644659643
-
In-depth analysis of spatial cognition in Williams Syndrome: A critical assessment of the role of the LIMK1 gene
-
Gray V, Karmiloff-Smith A, Funnell E, Tassabehji M, (2006) In-depth analysis of spatial cognition in Williams Syndrome: A critical assessment of the role of the LIMK1 gene. Neuropsychologia 44: 679-685.
-
(2006)
Neuropsychologia
, vol.44
, pp. 679-685
-
-
Gray, V.1
Karmiloff-Smith, A.2
Funnell, E.3
Tassabehji, M.4
-
19
-
-
0033366703
-
Williams Syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
-
Tassebehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, et al. (1999) Williams Syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 64: 118-125.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 118-125
-
-
Tassebehji, M.1
Metcalfe, K.2
Karmiloff-Smith, A.3
Carette, M.J.4
Grant, J.5
-
20
-
-
0038502072
-
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
-
Gagliardi C, Bonaglia MC, Selicorni A, Borgatti R, Giorda R, (2003) Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion. J Med Genet 40 (7): 526-530.
-
(2003)
J Med Genet
, vol.40
, Issue.7
, pp. 526-530
-
-
Gagliardi, C.1
Bonaglia, M.C.2
Selicorni, A.3
Borgatti, R.4
Giorda, R.5
-
21
-
-
10744229701
-
Williams syndrome deficits in visual spatial processing linked to GTF21IRD1 and GTF21 on Chromosome 7q11.23
-
Hirota H, Matsuoka R, Xia-Ning C, Salandanan LS, Lincoln A, et al. (2003) Williams syndrome deficits in visual spatial processing linked to GTF21IRD1 and GTF21 on Chromosome 7q11.23. Genet Med 5: 311-321.
-
(2003)
Genet Med
, vol.5
, pp. 311-321
-
-
Hirota, H.1
Matsuoka, R.2
Xia-Ning, C.3
Salandanan, L.S.4
Lincoln, A.5
-
22
-
-
10744221593
-
GTF21 hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis in five families with deletions in the Williams syndrome region
-
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, et al. (2003) GTF21 hemizygosity implicated in mental retardation in Williams syndrome: Genotype-phenotype analysis in five families with deletions in the Williams syndrome region. Am J Med Genet 123 (1): 45-59.
-
(2003)
Am J Med Genet
, vol.123
, Issue.1
, pp. 45-59
-
-
Morris, C.A.1
Mervis, C.B.2
Hobart, H.H.3
Gregg, R.G.4
Bertrand, J.5
-
23
-
-
33746514973
-
Submicroscopie deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes
-
Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, et al. (2006) Submicroscopie deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet 79 (2): 332-341.
-
(2006)
Am J Hum Genet
, vol.79
, Issue.2
, pp. 332-341
-
-
Merla, G.1
Howald, C.2
Henrichsen, C.N.3
Lyle, R.4
Wyss, C.5
-
24
-
-
27944486491
-
GTF2IRD1 in craniofacial development of humans and mice
-
Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, et al. (2005) GTF2IRD1 in craniofacial development of humans and mice. Science 310 (5751): 1184-1187.
-
(2005)
Science
, vol.310
, Issue.5751
, pp. 1184-1187
-
-
Tassabehji, M.1
Hammond, P.2
Karmiloff-Smith, A.3
Thompson, P.4
Thorgeirsson, S.S.5
-
25
-
-
0016689490
-
The Williams elfin facies syndrome. A new perspective
-
Jones KL, Smith DW, (1975) The Williams elfin facies syndrome. A new perspective. J Pediatr 86: 718-723.
-
(1975)
J Pediatr
, vol.86
, pp. 718-723
-
-
Jones, K.L.1
Smith, D.W.2
-
26
-
-
0023688145
-
The natural history of Williams syndrome: physical characteristics
-
Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL, (1988) The natural history of Williams syndrome: physical characteristics. J Pediatr 113: 318-326.
-
(1988)
J Pediatr
, vol.113
, pp. 318-326
-
-
Morris, C.A.1
Demsey, S.A.2
Leonard, C.O.3
Dilts, C.4
Blackburn, B.L.5
-
27
-
-
0030896549
-
Behavioural phenotypes and family stress in three mental retardation syndromes
-
Sarimski K, (1997) Behavioural phenotypes and family stress in three mental retardation syndromes. European Child Adolesc Psychiatry 6: 26-31.
-
(1997)
European Child Adolesc Psychiatry
, vol.6
, pp. 26-31
-
-
Sarimski, K.1
-
28
-
-
0025736209
-
A cognitive and behavioural phenotype in Williams syndrome
-
Udwin O, Yule W, (1991) A cognitive and behavioural phenotype in Williams syndrome. J Clin Exp Neuropsychol 13: 232-244.
-
(1991)
J Clin Exp Neuropsychol
, vol.13
, pp. 232-244
-
-
Udwin, O.1
Yule, W.2
-
29
-
-
0034043290
-
The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses
-
Bellugi U, Lichtenberger L, Jones W, Lai Z, St George M, (2000) The neurocognitive profile of Williams syndrome: a complex pattern of strengths and weaknesses. J Cogn Neurosci 12 (Suppl. 1): 7-29.
-
(2000)
J Cogn Neurosci
, vol.12
, Issue.SUPPL. 1
, pp. 7-29
-
-
Bellugi, U.1
Lichtenberger, L.2
Jones, W.3
Lai, Z.4
St George, M.5
-
30
-
-
0034043239
-
Williams syndrome: Cognition, personality and adaptative behaviour
-
Mervis CB, Klein-Tasman BP, (2000) Williams syndrome: Cognition, personality and adaptative behaviour. Ment Retard Dev Disabil Res Rev 6: 148-158.
-
(2000)
Ment Retard Dev Disabil Res Rev
, vol.6
, pp. 148-158
-
-
Mervis, C.B.1
Klein-Tasman, B.P.2
-
31
-
-
0032776318
-
Configural and local processing of faces in children with Williams syndrome
-
Deruelle C, Mancini J, Livet MO, Cassé-Perrot C, de Schonen S, (1999) Configural and local processing of faces in children with Williams syndrome. Brain Cognition 41: 276-298.
-
(1999)
Brain Cognition
, vol.41
, pp. 276-298
-
-
Deruelle, C.1
Mancini, J.2
Livet, M.O.3
Cassé-Perrot, C.4
de Schonen, S.5
-
32
-
-
4544300012
-
Exploring the Williams syndrome face-processing debate: the importance of building developmental trajectories
-
Karmiloff-Smith A, Thomas M, Annaz D, Humphreys K, Ewing S, et al. (2004) Exploring the Williams syndrome face-processing debate: the importance of building developmental trajectories. J Child Psychol Psychiatry 45: 1258-1274.
-
(2004)
J Child Psychol Psychiatry
, vol.45
, pp. 1258-1274
-
-
Karmiloff-Smith, A.1
Thomas, M.2
Annaz, D.3
Humphreys, K.4
Ewing, S.5
-
33
-
-
11844259986
-
Characterizing the musical phenotype in individuals with Williams Syndrome
-
Levitin DJ, Cole K, Chiles M, Lai Z, Lincoln A, et al. (2004) Characterizing the musical phenotype in individuals with Williams Syndrome. Child Neuropsychol 10: 223-247.
-
(2004)
Child Neuropsychol
, vol.10
, pp. 223-247
-
-
Levitin, D.J.1
Cole, K.2
Chiles, M.3
Lai, Z.4
Lincoln, A.5
-
34
-
-
28444434773
-
Is everybody always my friend? Perception of approachability in Williams syndrome
-
Frigerio A, Burt DM, Gagliardi C, Cioffid G, Martelli S, et al. (2006) Is everybody always my friend? Perception of approachability in Williams syndrome. Neuropsychologia 44: 254-259.
-
(2006)
Neuropsychologia
, vol.44
, pp. 254-259
-
-
Frigerio, A.1
Burt, D.M.2
Gagliardi, C.3
Cioffid, G.4
Martelli, S.5
-
35
-
-
0033134860
-
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome
-
Bellugi U, Lichtenberger L, Mills D, Galaburda A, Korenberg JR, (1999) Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Trends Neurosci 22: 197-207.
-
(1999)
Trends Neurosci
, vol.22
, pp. 197-207
-
-
Bellugi, U.1
Lichtenberger, L.2
Mills, D.3
Galaburda, A.4
Korenberg, J.R.5
-
36
-
-
0033579383
-
Cognitive modularity and genetic disorders
-
Patterson SJ, Brown JH, Gsödl MK, Johnson MH, Karmiloff-Smith A, (1999) Cognitive modularity and genetic disorders. Science 286: 2355-2358.
-
(1999)
Science
, vol.286
, pp. 2355-2358
-
-
Patterson, S.J.1
Brown, J.H.2
Gsödl, M.K.3
Johnson, M.H.4
Karmiloff-Smith, A.5
-
37
-
-
0036411342
-
Language acquisition in special populations: a comparison between Down and Williams syndromes
-
Vicari S, Caselli MC, Gagliardi C, Tonucci F, Volterra V, (2002) Language acquisition in special populations: a comparison between Down and Williams syndromes. Neuropsychologia 40: 2461-2470.
-
(2002)
Neuropsychologia
, vol.40
, pp. 2461-2470
-
-
Vicari, S.1
Caselli, M.C.2
Gagliardi, C.3
Tonucci, F.4
Volterra, V.5
-
38
-
-
0004235298
-
-
American Psychiatric Association, Washington, DC, American Psychiatric Association
-
American Psychiatric Association (2000) Diagnostic and statistical manual of mental disorders; Vol IV-TR Washington, DC American Psychiatric Association.
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders
-
-
-
39
-
-
0003391963
-
-
(3e ed.) et Classification internationale des troubles mentaux et du comportement (chapitre V de la CIM 10-OMS): version officielle du chapitre V de l'International Statistical Classification of Diseases and Related Health Problems, ICD-10, 1992, OMS Genève), Vanves, CTNERHI, diffusion PUF
-
Misès R, Quemada N, (1993) CIM-10. Classification française des troubles mentaux de l'enfant et de l'adolescent (3e ed.) et Classification internationale des troubles mentaux et du comportement (chapitre V de la CIM 10-OMS): version officielle du chapitre V de l'International Statistical Classification of Diseases and Related Health Problems, ICD-10, 1992, OMS Genève), Vanves, CTNERHI, diffusion PUF.
-
(1993)
CIM-10. Classification française des troubles mentaux de l'enfant et de l'adolescent
-
-
Misès, R.1
Quemada, N.2
-
40
-
-
42349095075
-
Advances in autism genetics: on the threshold of a new neurobiology
-
Abraham BS, Geschwind DH, (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
-
-
Abraham, B.S.1
Geschwind, D.H.2
-
41
-
-
67651010456
-
Genetic Advances in autism: heterogeneity and convergence on shared pathways
-
Bill BR, Geschwind DH, (2009) Genetic Advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev 19: 271-278.
-
(2009)
Curr Opin Genet Dev
, vol.19
, pp. 271-278
-
-
Bill, B.R.1
Geschwind, D.H.2
-
44
-
-
34548507034
-
Socio-Communicative Deficits in Young Children with Williams Syndrome: Performance on the Autism Diagnostic Observation Schedule
-
Klein-Tasman BP, Mervis CB, Lord C, Phillips KD, (2007) Socio-Communicative Deficits in Young Children with Williams Syndrome: Performance on the Autism Diagnostic Observation Schedule. Child Neuropsychol 13 (5): 444-467.
-
(2007)
Child Neuropsychol
, vol.13
, Issue.5
, pp. 444-467
-
-
Klein-Tasman, B.P.1
Mervis, C.B.2
Lord, C.3
Phillips, K.D.4
-
45
-
-
33847191339
-
Social interaction behaviors discriminate young children with autism and Williams syndrome
-
Lincoln AJ, Searcy YM, Jones W, Lord C, (2007) Social interaction behaviors discriminate young children with autism and Williams syndrome. J Acad Child Adolesc Psychiatry 46 (3): 323-331.
-
(2007)
J Acad Child Adolesc Psychiatry
, vol.46
, Issue.3
, pp. 323-331
-
-
Lincoln, A.J.1
Searcy, Y.M.2
Jones, W.3
Lord, C.4
-
46
-
-
0021912631
-
Autism associated with Williams syndrome
-
Reiss AL, Feinstein C, Rosenbaum KN, Borengasser-Caruso MA, et al. (1985) Autism associated with Williams syndrome. J Pediatr 106 (2): 247-249.
-
(1985)
J Pediatr
, vol.106
, Issue.2
, pp. 247-249
-
-
Reiss, A.L.1
Feinstein, C.2
Rosenbaum, K.N.3
Borengasser-Caruso, M.A.4
-
47
-
-
0028363301
-
Brief report: four case histories and a literature review of Williams syndrome and autistic behavior
-
Gillberg C, Rasmussen P, (1994) Brief report: four case histories and a literature review of Williams syndrome and autistic behavior. J Autism Dev Dis 24: 381-393.
-
(1994)
J Autism Dev Dis
, vol.24
, pp. 381-393
-
-
Gillberg, C.1
Rasmussen, P.2
-
48
-
-
0030821541
-
Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome
-
Gosch A, Pankau R, (1997) Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome. Dev Med Child Neurol 39: 527-533.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 527-533
-
-
Gosch, A.1
Pankau, R.2
-
49
-
-
33748946219
-
Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome
-
Leyfer OT, Woodruff-Borden J, Klein-Tassman BP, Fricke JS, Mervis CB, (2006) Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet 141B: 615-622.
-
(2006)
Am J Med Genet
, vol.141 B
, pp. 615-622
-
-
Leyfer, O.T.1
Woodruff-Borden, J.2
Klein-Tassman, B.P.3
Fricke, J.S.4
Mervis, C.B.5
-
50
-
-
0027997172
-
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C, Rutter, Le Couteur A, (1994) Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24: 659-685.
-
(1994)
J Autism Dev Disord
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter2
Le Couteur, A.3
-
51
-
-
0033802632
-
The Autism Diagnostic Observation Schedule-Generic: A standard measures of social and communication deficits associated with the spectrum of autism
-
Lord C, Risi S, Lambrecht L, Cook E, Leventhal B, et al. (2000) The Autism Diagnostic Observation Schedule-Generic: A standard measures 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
Risi, S.2
Lambrecht, L.3
Cook, E.4
Leventhal, B.5
-
52
-
-
33748417617
-
Combining information from multiple sources in the diagnosis of autism spectrum disorders
-
Risi S, Lord C, Gotham K, Corsello C, Chrysler C, et al. (2006) Combining information from multiple sources in the diagnosis of autism spectrum disorders. J Am Acad Child Adolesc Psychiatry 45: 1094-1103.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, pp. 1094-1103
-
-
Risi, S.1
Lord, C.2
Gotham, K.3
Corsello, C.4
Chrysler, C.5
-
54
-
-
33747751247
-
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
-
Saugier-Veber P, Goldenberg A, Drouin-Garraud V, de La Rochebrochard C, Layet V, et al. (2006) Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation. Eur J Hum Genet 14 (9): 1009-1017.
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.9
, pp. 1009-1017
-
-
Saugier-Veber, P.1
Goldenberg, A.2
Drouin-Garraud, V.3
de La Rochebrochard, C.4
Layet, V.5
-
55
-
-
0036000470
-
A typical development of language and social communication in toddlers with Williams syndrome
-
Laing E, Butterworth G, Ansari D, Gsöld M, Longhi E, et al. (2002) A typical development of language and social communication in toddlers with Williams syndrome. Dev Sci 5: 233-246.
-
(2002)
Dev Sci
, vol.5
, pp. 233-246
-
-
Laing, E.1
Butterworth, G.2
Ansari, D.3
Gsöld, M.4
Longhi, E.5
-
56
-
-
0017819225
-
The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification
-
Bennett FC, Laveck B, Sells CJ, (1978) The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification. Pediatrics 61: 303.
-
(1978)
Pediatrics
, vol.61
, pp. 303
-
-
Bennett, F.C.1
Laveck, B.2
Sells, C.J.3
-
57
-
-
0002277664
-
Epidemiology of autism: overview and issues outstanding
-
In: Cohen DJ, Volkmar FR, editors, New York, John Wiley and sons INC
-
Bryson SE, (1997) Epidemiology of autism: overview and issues outstanding. In: Cohen DJ, Volkmar FR, editors. Handbook of autism and pervasive developmental disorders, 2nd ed New York John Wiley and sons INC pp. 41-46.
-
(1997)
Handbook of Autism and Pervasive Developmental Disorders
, pp. 41-46
-
-
Bryson, S.E.1
-
58
-
-
11844268151
-
Nocturnal urinary excretion of melatonin in children and adolescents with autistic disorder
-
Tordjman S, Anderson GM, Pichard N, Charbuy H, Touitou Y, (2005) Nocturnal urinary excretion of melatonin in children and adolescents with autistic disorder. Biol Psychiatry 57: 134-138.
-
(2005)
Biol Psychiatry
, vol.57
, pp. 134-138
-
-
Tordjman, S.1
Anderson, G.M.2
Pichard, N.3
Charbuy, H.4
Touitou, Y.5
-
59
-
-
79956016700
-
Honing in on the social phenotype in Williams Syndrome using multiple measures and multiple raters
-
Klein-Tasman BP, Li-Barber KT, Magargee ET, (2011) Honing in on the social phenotype in Williams Syndrome using multiple measures and multiple raters. J Autism Dev Disord 41: 341-351.
-
(2011)
J Autism Dev Disord
, vol.41
, pp. 341-351
-
-
Klein-Tasman, B.P.1
Li-Barber, K.T.2
Magargee, E.T.3
-
60
-
-
69349098393
-
Overlap with the Autism spectrum in young children with Williams Syndrome
-
Klein-Tasman BP, Phillips KD, Lord CE, Mervis CB, Gallo F, (2009) Overlap with the Autism spectrum in young children with Williams Syndrome. J Dev Behav Pediatr 30 (4): 289-299.
-
(2009)
J Dev Behav Pediatr
, vol.30
, Issue.4
, pp. 289-299
-
-
Klein-Tasman, B.P.1
Phillips, K.D.2
Lord, C.E.3
Mervis, C.B.4
Gallo, F.5
-
61
-
-
0742321712
-
Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment
-
Laws G, Bishop DVM, (2004) Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment. Int J Lang Comm Dis 39 (1): 45-64.
-
(2004)
Int J Lang Comm Dis
, vol.39
, Issue.1
, pp. 45-64
-
-
Laws, G.1
Bishop, D.V.M.2
-
62
-
-
0035983199
-
A study of relative clauses in Williams syndrome
-
Grant J, Valian V, Karmiloff-Smith A, (2002) A study of relative clauses in Williams syndrome. J Child Lang 29: 403-416.
-
(2002)
J Child Lang
, vol.29
, pp. 403-416
-
-
Grant, J.1
Valian, V.2
Karmiloff-Smith, A.3
-
63
-
-
0031112264
-
Language and Williams syndrome: how intact is "intact"?
-
Karmiloff-Smith A, Grant J, Berthoud I, Davies M, Howlin P, et al. (1997) Language and Williams syndrome: how intact is "intact"? Child Dev 68: 246-262.
-
(1997)
Child Dev
, vol.68
, pp. 246-262
-
-
Karmiloff-Smith, A.1
Grant, J.2
Berthoud, I.3
Davies, M.4
Howlin, P.5
-
64
-
-
0035023910
-
Past tense formation in Williams syndrome
-
Thomas MSC, Grant J, Gsödl M, Laing E, Barham Z, et al. (2001) Past tense formation in Williams syndrome. Lang Cogn Processes 16: 143-176.
-
(2001)
Lang Cogn Processes
, vol.16
, pp. 143-176
-
-
Thomas, M.S.C.1
Grant, J.2
Gsödl, M.3
Laing, E.4
Barham, Z.5
-
65
-
-
0030480151
-
Linguistic abilities in Italian children with Williams syndrome
-
Volterra V, Capirci O, Pezzini G, Sabbadini L, Vicari S, (1996) Linguistic abilities in Italian children with Williams syndrome. Cortex 32: 663-677.
-
(1996)
Cortex
, vol.32
, pp. 663-677
-
-
Volterra, V.1
Capirci, O.2
Pezzini, G.3
Sabbadini, L.4
Vicari, S.5
-
66
-
-
33947108959
-
Language and communicative development in Williams syndrome
-
Mervis CB, Becerra AM, (2007) Language and communicative development in Williams syndrome. Ment Retard Dev Res Rev 13: 3-15.
-
(2007)
Ment Retard Dev Res Rev
, vol.13
, pp. 3-15
-
-
Mervis, C.B.1
Becerra, A.M.2
-
67
-
-
0033924617
-
Early expressive vocabularies of children with Williams syndrome or Down syndrome
-
Mervis CB, Robinson BF, (2000) Early expressive vocabularies of children with Williams syndrome or Down syndrome. Dev Neuropsychol 17: 111-126.
-
(2000)
Dev Neuropsychol
, vol.17
, pp. 111-126
-
-
Mervis, C.B.1
Robinson, B.F.2
-
68
-
-
0033362020
-
Cognitive and behavioral genetics: visuospatial construction
-
Mervis CB, Robinson BF, Pani JR, (1999) Cognitive and behavioral genetics: visuospatial construction. Am J Hum Genet 65: 1222-1229.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1222-1229
-
-
Mervis, C.B.1
Robinson, B.F.2
Pani, J.R.3
-
69
-
-
0035035633
-
Language and conversational abilities in Williams syndrome: how good is good?
-
Stojanovik V, Perkins M, Howard S, (2001) Language and conversational abilities in Williams syndrome: how good is good? Int J Lang Comm Dis 36 (Suppl.): 234-239.
-
(2001)
Int J Lang Comm Dis
, vol.36
, Issue.SUPPL.
, pp. 234-239
-
-
Stojanovik, V.1
Perkins, M.2
Howard, S.3
-
70
-
-
0031938910
-
Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties
-
Davies M, Udwin O, Howlin P, (1998) Adults with Williams syndrome. Preliminary study of social, emotional and behavioural difficulties. British J Psychiatry 172: 273-276.
-
(1998)
British J Psychiatry
, vol.172
, pp. 273-276
-
-
Davies, M.1
Udwin, O.2
Howlin, P.3
-
71
-
-
0029743998
-
Practitioner Review: Developmental language disorders: A clinical update
-
Rapin I, (1996) Practitioner Review: Developmental language disorders: A clinical update. J Child Psychol Psychiatry 37: 643-655.
-
(1996)
J Child Psychol Psychiatry
, vol.37
, pp. 643-655
-
-
Rapin, I.1
-
72
-
-
0026529655
-
Autism by another name? Semantic and pragmatic impairments in children
-
Lister Brook S, Bowler D, (1992) Autism by another name? Semantic and pragmatic impairments in children. J Autism Dev Disorders 22: 61-82.
-
(1992)
J Autism Dev Disorders
, vol.22
, pp. 61-82
-
-
Lister Brook, S.1
Bowler, D.2
-
73
-
-
0029931756
-
Hemispheric function in developmental language disorders and high-level autism
-
Shield J, Varley R, Boks P, Simpson A, (1996) Hemispheric function in developmental language disorders and high-level autism. Dev Med Child Neurol 38: 473-486.
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 473-486
-
-
Shield, J.1
Varley, R.2
Boks, P.3
Simpson, A.4
-
74
-
-
0035111546
-
Adaptative behaviour of 4-through 8-year-old children with William syndrome
-
Mervis CB, Klein-Tasman BP, Mastin ME, (2001) Adaptative behaviour of 4-through 8-year-old children with William syndrome. Am J Ment Retard 106 (1): 82-93.
-
(2001)
Am J Ment Retard
, vol.106
, Issue.1
, pp. 82-93
-
-
Mervis, C.B.1
Klein-Tasman, B.P.2
Mastin, M.E.3
-
75
-
-
0037250382
-
Can adolescents with Williams syndrome tell the difference between lies and jokes?
-
Sullivan K, Winner E, Tager-Flusberg H, (2003) Can adolescents with Williams syndrome tell the difference between lies and jokes? Dev Neuropsychol 23: 85-103.
-
(2003)
Dev Neuropsychol
, vol.23
, pp. 85-103
-
-
Sullivan, K.1
Winner, E.2
Tager-Flusberg, H.3
-
76
-
-
0034046114
-
Hypersociability in Williams syndrome
-
Jones W, Bellugi U, Lai Z, Chiles M, Reilly J, et al. (2000) Hypersociability in Williams syndrome. J Cogn Neurosci 12 (Suppl.): 30-46.
-
(2000)
J Cogn Neurosci
, vol.12
, Issue.SUPPL.
, pp. 30-46
-
-
Jones, W.1
Bellugi, U.2
Lai, Z.3
Chiles, M.4
Reilly, J.5
-
77
-
-
0000984981
-
Autistic disturbances of affective contact
-
Kanner L, (1943) Autistic disturbances of affective contact. Nervous Child 32: 217-253.
-
(1943)
Nervous Child
, vol.32
, pp. 217-253
-
-
Kanner, L.1
-
78
-
-
0037251227
-
Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome
-
Klein-Tasman BP, Mervis CB, (2003) Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome. Dev Neuropsychol 23: 269-290.
-
(2003)
Dev Neuropsychol
, vol.23
, pp. 269-290
-
-
Klein-Tasman, B.P.1
Mervis, C.B.2
-
79
-
-
0033220296
-
Second-order belief attribution in Williams syndrome: intact or impaired?
-
Sullivan K, Tager-Flusberg H, (1999) Second-order belief attribution in Williams syndrome: intact or impaired? Am J Mental Retardation 104: 523-532.
-
(1999)
Am J Mental Retardation
, vol.104
, pp. 523-532
-
-
Sullivan, K.1
Tager-Flusberg, H.2
-
80
-
-
0034648057
-
A componential view of theory of mind: evidence from Williams syndrome
-
Tager-Flusberg H, Sullivan K, (2000) A componential view of theory of mind: evidence from Williams syndrome. Cognition 76: 59-90.
-
(2000)
Cognition
, vol.76
, pp. 59-90
-
-
Tager-Flusberg, H.1
Sullivan, K.2
-
81
-
-
85083121252
-
The development of empathy in four-year-old children with Williams syndrome
-
Paper presented at the 9th International Professional Meeting on Williams Syndrome, Long Beach, CA
-
Thomas ML, Becerra AM, Mervis CB, (2002) The development of empathy in four-year-old children with Williams syndrome. Paper presented at the 9th International Professional Meeting on Williams Syndrome, Long Beach, CA.
-
(2002)
-
-
Thomas, M.L.1
Becerra, A.M.2
Mervis, C.B.3
-
82
-
-
0031852751
-
Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome
-
Van Lieshout CF, De Meyer RE, Curfs LM, Fryns JP, (1998) Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome. J Child Psychol Psyc 39: 699-710.
-
(1998)
J Child Psychol Psyc
, vol.39
, pp. 699-710
-
-
van Lieshout, C.F.1
de Meyer, R.E.2
Curfs, L.M.3
Fryns, J.P.4
-
83
-
-
11144348717
-
Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment
-
Sung YJ, Dawson G, Munson J, Estes A, Schellenberg GD, et al. (2005) Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment. Am J Hum Genet 76 (1): 68-81.
-
(2005)
Am J Hum Genet
, vol.76
, Issue.1
, pp. 68-81
-
-
Sung, Y.J.1
Dawson, G.2
Munson, J.3
Estes, A.4
Schellenberg, G.D.5
-
84
-
-
0031714939
-
Development itself is the key to understanding developmental disorders
-
Karmiloff-Smith A, (1998) Development itself is the key to understanding developmental disorders. Trends Cogn Sci 2: 389-398.
-
(1998)
Trends Cogn Sci
, vol.2
, pp. 389-398
-
-
Karmiloff-Smith, A.1
-
85
-
-
34547660213
-
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
-
Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, et al. (2007) Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 9 (7): 427-441.
-
(2007)
Genet Med
, vol.9
, Issue.7
, pp. 427-441
-
-
Berg, J.S.1
Brunetti-Pierri, N.2
Peters, S.U.3
Kang, S.H.4
Fong, C.T.5
-
86
-
-
34250819573
-
Autism, language delay and mental retardation in a patient with 7q11 duplication
-
Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, et al. (2007) Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet 44: 452-458.
-
(2007)
J Med Genet
, vol.44
, pp. 452-458
-
-
Depienne, C.1
Heron, D.2
Betancur, C.3
Benyahia, B.4
Trouillard, O.5
-
87
-
-
26844496418
-
Severe Expressive-Language Delay Related to Duplication of the Williams-Beuren Locus
-
Somerville MJ, Mervis CB, Young EJ, Seo EJ, Del Campo M, et al. (2005) Severe Expressive-Language Delay Related to Duplication of the Williams-Beuren Locus. N Engl J Med 16: 353.
-
(2005)
N Engl J Med
, vol.16
, pp. 353
-
-
Somerville, M.J.1
Mervis, C.B.2
Young, E.J.3
Seo, E.J.4
Del Campo, M.5
-
88
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa N, Rooms L, Vandeweyer G, Van den Ende J, Reyniers E, et al. (2009) Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 52: 94-100.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 94-100
-
-
van der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
van den Ende, J.4
Reyniers, E.5
-
89
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams Syndrome Region, are strongly associated with autism
-
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams Syndrome Region, are strongly associated with autism. Neuron 70: 863-885.
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
-
90
-
-
33846317078
-
5-HTTLPR genotype-specific phenotype in children and adolescents with autism
-
Brune CW, Kim SJ, Leventhal BL, Lord C, Cook EH Jr, (2006) 5-HTTLPR genotype-specific phenotype in children and adolescents with autism. Am J Psychiatry 163: 2148-2156.
-
(2006)
Am J Psychiatry
, vol.163
, pp. 2148-2156
-
-
Brune, C.W.1
Kim, S.J.2
Leventhal, B.L.3
Lord, C.4
Cook Jr., E.H.5
-
91
-
-
78651095179
-
Role of the serotonin transporter gene in the behavioral expression of autism
-
Tordjman S, Gutknecht L, Carlier M, Spitz E, Antoine C, et al. (2001) Role of the serotonin transporter gene in the behavioral expression of autism. Mol Psychiatry 5: 831-836.
-
(2001)
Mol Psychiatry
, vol.5
, pp. 831-836
-
-
Tordjman, S.1
Gutknecht, L.2
Carlier, M.3
Spitz, E.4
Antoine, C.5
-
92
-
-
85083148436
-
Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia
-
Anderson GM, Gutknecht L, Brailly-Tabard S, Ferrari P, Tordjman S, (2002) Serotonin transporter promoter variants in autism: functional effects and relationship to platelet hyperserotonemia, Mol Psychiatr 7: 633-639.
-
(2002)
Mol Psychiatr
, vol.7
, pp. 633-639
-
-
Anderson, G.M.1
Gutknecht, L.2
Brailly-Tabard, S.3
Ferrari, P.4
Tordjman, S.5
-
93
-
-
0024551469
-
Williams Syndrome: Serotonin's Association with Developmental Disabilities
-
August GJ, Realmuto GM, (1989) Williams Syndrome: Serotonin's Association with Developmental Disabilities. J Autism Develop Disorders 19 (1): 137-141.
-
(1989)
J Autism Develop Disorders
, vol.19
, Issue.1
, pp. 137-141
-
-
August, G.J.1
Realmuto, G.M.2
-
94
-
-
0034709291
-
Value of a Clinical Morphology Examination in Autism
-
Miles JH, Hillman RE, (2000) Value of a Clinical Morphology Examination in Autism. Am J Med Genet 91: 245-253.
-
(2000)
Am J Med Genet
, vol.91
, pp. 245-253
-
-
Miles, J.H.1
Hillman, R.E.2
|