-
1
-
-
0030788742
-
De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes
-
Allanson JE, Hannekan RCM, Ireland M. 1997. De Lange syndrome: Subjective and objective comparison of the classical and mild phenotypes. J Med Genet 34:645-650.
-
(1997)
J Med Genet
, vol.34
, pp. 645-650
-
-
Allanson, J.E.1
Hannekan, R.C.M.2
Ireland, M.3
-
2
-
-
0015084986
-
Neurological and psychometric findings in the Brachmann de Lange syndrome
-
Barr AN, Grabow JD, Matthews CG. 1971. Neurological and psychometric findings in the Brachmann de Lange syndrome. Neuropädiatrie 3:46-66.
-
(1971)
Neuropädiatrie
, vol.3
, pp. 46-66
-
-
Barr, A.N.1
Grabow, J.D.2
Matthews, C.G.3
-
3
-
-
34547923133
-
The behavioral phenotype of Cornelia de Lange syndrome: A study of 56 individuals
-
Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioral phenotype of Cornelia de Lange syndrome: A study of 56 individuals. J Intell Dis Res 51:671-681.
-
(2007)
J Intell Dis Res
, vol.51
, pp. 671-681
-
-
Basile, E.1
Villa, L.2
Selicorni, A.3
Molteni, M.4
-
4
-
-
0023613857
-
Psycho-social assessment of 36 de Lange patients
-
Beck B. 1987. Psycho-social assessment of 36 de Lange patients. J Ment Def Res 31:251-257.
-
(1987)
J Ment Def Res
, vol.31
, pp. 251-257
-
-
Beck, B.1
-
5
-
-
0032835107
-
Behavioral phenotype of Cornelia de Lange syndrome
-
Berney TP, Ireland M, Burn J. 1999. Behavioral phenotype of Cornelia de Lange syndrome. Arch Dis Child 81:333-336.
-
(1999)
Arch Dis Child
, vol.81
, pp. 333-336
-
-
Berney, T.P.1
Ireland, M.2
Burn, J.3
-
6
-
-
0032743326
-
Autism screening questionnaire: Diagnostic validity
-
Berument SK, Rutter M, Lord C, Pickles A, Bailey A. 1999. Autism screening questionnaire: Diagnostic validity. Br J Psychiatry 175:444-451.
-
(1999)
Br J Psychiatry
, vol.175
, pp. 444-451
-
-
Berument, S.K.1
Rutter, M.2
Lord, C.3
Pickles, A.4
Bailey, A.5
-
7
-
-
33745909174
-
Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome; the Dutch experience
-
Bhuiyan ZA, Klein M, Hammond P, Van Haeringen A, Mannens MMAM, Van Berckelaer-Onnes I, Hennekam RCM. 2006. Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome; the Dutch experience. J Med Genet 43:568-575.
-
(2006)
J Med Genet
, vol.43
, pp. 568-575
-
-
Bhuiyan, Z.A.1
Klein, M.2
Hammond, P.3
Van Haeringen, A.4
Mannens, M.M.A.M.5
Van Berckelaer-Onnes, I.6
Hennekam, R.C.M.7
-
8
-
-
34547839553
-
Between a ROC and a hard place: Decision making and making decisions about using the SCQ
-
Corsello C, Hus V, Pickles A, Risi S, Cook EH, Leventhal BL, Lord C. 2007. Between a ROC and a hard place: Decision making and making decisions about using the SCQ. J Child Psychol Psychiatry 48:932-940.
-
(2007)
J Child Psychol Psychiatry
, vol.48
, pp. 932-940
-
-
Corsello, C.1
Hus, V.2
Pickles, A.3
Risi, S.4
Cook, E.H.5
Leventhal, B.L.6
Lord, C.7
-
9
-
-
0344436091
-
Autism spectrum disorder at 20 and 24 months of age: Stability of clinical and ADI-R diagnosis
-
Cox A, Klein K, Charman T, Baird G, Baron-Cohen S, Swettenham J, Drew A, Wheelwright S. 1999. Autism spectrum disorder at 20 and 24 months of age: Stability of clinical and ADI-R diagnosis. J Child Psychol Psychiatry 40:219-732.
-
(1999)
J Child Psychol Psychiatry
, vol.40
, pp. 219-732
-
-
Cox, A.1
Klein, K.2
Charman, T.3
Baird, G.4
Baron-Cohen, S.5
Swettenham, J.6
Drew, A.7
Wheelwright, S.8
-
10
-
-
3543049569
-
Interrelationship between Autims Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) Classification in Children and Adolescents with Mental Retardation
-
de Bildt A, Systema S, Ketelaars C, Kraijer D, Mulder E, Volkmar F, Minderaa R. 2004. Interrelationship between Autims Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) Classification in Children and Adolescents with Mental Retardation. J Autism Dev Disord 34:129-137.
-
(2004)
J Autism Dev Disord
, vol.34
, pp. 129-137
-
-
de Bildt, A.1
Systema, S.2
Ketelaars, C.3
Kraijer, D.4
Mulder, E.5
Volkmar, F.6
Minderaa, R.7
-
11
-
-
33847196427
-
Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
-
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. 2007. Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 80:485-494.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 485-494
-
-
Deardorff, M.A.1
Kaur, M.2
Yaeger, D.3
Rampuria, A.4
Korolev, S.5
Pie, J.6
Gil-Rodriguez, C.7
Arnedo, M.8
Loeys, B.9
Kline, A.D.10
Wilson, M.11
Lillquist, K.12
Siu, V.13
Ramos, F.J.14
Musio, A.15
Jackson, L.S.16
Dorsett, D.17
Krantz, I.D.18
-
13
-
-
4544253309
-
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
-
Gillis LA, McCallum J, Kaur M, DeScipio C, Yaeger D, Mariani A, Kline AD, Li HH, Devoto M, Jackson LG, Krantz ID. 2004. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet 75:610-623.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 610-623
-
-
Gillis, L.A.1
McCallum, J.2
Kaur, M.3
DeScipio, C.4
Yaeger, D.5
Mariani, A.6
Kline, A.D.7
Li, H.H.8
Devoto, M.9
Jackson, L.G.10
Krantz, I.D.11
-
14
-
-
41049102728
-
Using the autism diagnostic interview-revised and the autism diagnostic observation schedule with young children with developmental delay: Evaluation in diagnostic validity
-
Gray KM, Tonge BJ, Sweeney DJ. 2008. Using the autism diagnostic interview-revised and the autism diagnostic observation schedule with young children with developmental delay: Evaluation in diagnostic validity. J Autism Dev Disord 38:657-667.
-
(2008)
J Autism Dev Disord
, vol.38
, pp. 657-667
-
-
Gray, K.M.1
Tonge, B.J.2
Sweeney, D.J.3
-
15
-
-
0027423908
-
Brachmann-de Lange syndrome. Delineation of the clinical phenotype
-
Ireland M, Donnai D, Burn J. 1993. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. Am J Med Genet 47:959-964.
-
(1993)
Am J Med Genet
, vol.47
, pp. 959-964
-
-
Ireland, M.1
Donnai, D.2
Burn, J.3
-
17
-
-
0017175784
-
A behavioral phenotype in the de Lange syndrome
-
Johnson HG, Ekman P, Friesen W, Nyhan WL, Shear C. 1976. A behavioral phenotype in the de Lange syndrome. Pediatr Res 10:843-850.
-
(1976)
Pediatr Res
, vol.10
, pp. 843-850
-
-
Johnson, H.G.1
Ekman, P.2
Friesen, W.3
Nyhan, W.L.4
Shear, C.5
-
18
-
-
0027503882
-
Developmental data on individuals with the Brachmann-de Lange syndrome
-
Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson L. 1993. Developmental data on individuals with the Brachmann-de Lange syndrome. Am J Med Genet 47:1053-1058.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1053-1058
-
-
Kline, A.D.1
Stanley, C.2
Belevich, J.3
Brodsky, K.4
Barr, M.5
Jackson, L.6
-
19
-
-
34249904394
-
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
-
Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A. 2007. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet Part A 143A:1287-1296.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 1287-1296
-
-
Kline, A.D.1
Krantz, I.D.2
Sommer, A.3
Kliewer, M.4
Jackson, L.G.5
FitzPatrick, D.R.6
Levin, A.V.7
Selicorni, A.8
-
21
-
-
0027997172
-
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord C, Rutter M, 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 Dis 24:659-685.
-
(1994)
J Autism Dev Dis
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
22
-
-
0029562380
-
Follow-up of two-year-olds referred for possible autism
-
Lord C. 1995. Follow-up of two-year-olds referred for possible autism. J Child Psychol Psychiatry 36:1365-1382.
-
(1995)
J Child Psychol Psychiatry
, vol.36
, pp. 1365-1382
-
-
Lord, C.1
-
23
-
-
0030773652
-
Diagnosing autism: Analyses of data from the Autism Diagnostic Interview
-
Lord C, Pickles A, McLennan J, Rutter M, Bregman J, Folstein S, Fombonne E, Leboyer M, Minshew N. 1997. Diagnosing autism: Analyses of data from the Autism Diagnostic Interview. J Autism Dev Dis 27:501-517.
-
(1997)
J Autism Dev Dis
, vol.27
, pp. 501-517
-
-
Lord, C.1
Pickles, A.2
McLennan, J.3
Rutter, M.4
Bregman, J.5
Folstein, S.6
Fombonne, E.7
Leboyer, M.8
Minshew, N.9
-
24
-
-
70350430194
-
Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population
-
Moss J, Howlin P. 2009. Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res 53:852-873.
-
(2009)
J Intellect Disabil Res
, vol.53
, pp. 852-873
-
-
Moss, J.1
Howlin, P.2
-
25
-
-
48749120257
-
Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes
-
Moss JF, Oliver C, Berg K, Kaur G, Jephcott L. 2008. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard 113:278-291.
-
(2008)
Am J Ment Retard
, vol.113
, pp. 278-291
-
-
Moss, J.F.1
Oliver, C.2
Berg, K.3
Kaur, G.4
Jephcott, L.5
-
26
-
-
57449106631
-
Behavioural phenotype of Cornelia de Lange syndrome: Case-control study
-
Oliver C, Arron K, Sloneem J, Hall S. 2008. Behavioural phenotype of Cornelia de Lange syndrome: Case-control study. Br J Psychiatry 193:466-470.
-
(2008)
Br J Psychiatry
, vol.193
, pp. 466-470
-
-
Oliver, C.1
Arron, K.2
Sloneem, J.3
Hall, S.4
-
27
-
-
59849095470
-
Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Greek sample with a wide range of intellectual abilities
-
Papanikolaou K, Paliokosta E, Houliaras G, Vgenopoulou S, Giouroukou E, Pehlivanidis A, Tomaras V, Tsiantis I. 2009. Using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-Greek sample with a wide range of intellectual abilities. J Autism Dev Disord 39:414-420.
-
(2009)
J Autism Dev Disord
, vol.39
, pp. 414-420
-
-
Papanikolaou, K.1
Paliokosta, E.2
Houliaras, G.3
Vgenopoulou, S.4
Giouroukou, E.5
Pehlivanidis, A.6
Tomaras, V.7
Tsiantis, I.8
-
29
-
-
0027435930
-
Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
-
Moeschler JB, Graham JM. 1993. Mild Brachmann-de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals. Am J Med Genet 47:969-976.
-
(1993)
Am J Med Genet
, vol.47
, pp. 969-976
-
-
Moeschler, J.B.1
Graham, J.M.2
-
30
-
-
67349154416
-
The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric properties
-
Nygren G, Hagberg B, Billstedt E, Skoglund A, Gillberg C, Johansson M. 2009. The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric properties. J Autism Dev Disord 39:730-741.
-
(2009)
J Autism Dev Disord
, vol.39
, pp. 730-741
-
-
Nygren, G.1
Hagberg, B.2
Billstedt, E.3
Skoglund, A.4
Gillberg, C.5
Johansson, M.6
-
31
-
-
0042206739
-
Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: Convergence and discrepancy in diagnosing autism
-
Saemundsen E, Magnusson P, Smari J, Sigurdardottir S. 2003. Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale: Convergence and discrepancy in diagnosing autism. J Autism Dev Disord 33:319-328.
-
(2003)
J Autism Dev Disord
, vol.33
, pp. 319-328
-
-
Saemundsen, E.1
Magnusson, P.2
Smari, J.3
Sigurdardottir, S.4
-
32
-
-
0027496221
-
Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
-
Saul RA, Rogers RC, Phelan MC, Stevenson RE. 1993. Brachmann-de Lange syndrome: Diagnostic difficulties posed by the mild phenotype. Am J Med Genet 47:999-1002.
-
(1993)
Am J Med Genet
, vol.47
, pp. 999-1002
-
-
Saul, R.A.1
Rogers, R.C.2
Phelan, M.C.3
Stevenson, R.E.4
-
33
-
-
84864124189
-
-
Minnesota: AGS Publishing
-
Selicorni A, Lalatta F, Livini E, Briscioli V, Pigurry T, Clerici Bagozzi D, Mastroiacovo P, Zampino G, Gaeta G, Pugliese A, Cerutti-Mainaroli P, Guala A, Zelante L, Stabile M, Belli S, Sparrow SS, Cicchetti DV, Balla DA. 2005. Vineland Adaptive Behavior Scales-Second Edition-Survey Forms Manual. Minnesota: AGS Publishing. pp 139-147.
-
(2005)
Vineland Adaptive Behavior Scales-Second Edition-Survey Forms Manual
, pp. 139-147
-
-
Selicorni, A.1
Lalatta, F.2
Livini, E.3
Briscioli, V.4
Pigurry, T.5
Clerici Bagozzi, D.6
Mastroiacovo, P.7
Zampino, G.8
Gaeta, G.9
Pugliese, A.10
Cerutti-Mainaroli, P.11
Guala, A.12
Zelante, L.13
Stabile, M.14
Belli, S.15
Sparrow, S.S.16
Cicchetti, D.V.17
Balla, D.A.18
-
35
-
-
33748962569
-
Agreement among four diagnostic instruments for autism spectrum disorders in toddlers
-
Ventola PE, Kleinman J, Pandey J, Barton M, Allen S, Green J, Robins D, Fein D. 2006. Agreement among four diagnostic instruments for autism spectrum disorders in toddlers. J Autism Dev Disord 36:839-847.
-
(2006)
J Autism Dev Disord
, vol.36
, pp. 839-847
-
-
Ventola, P.E.1
Kleinman, J.2
Pandey, J.3
Barton, M.4
Allen, S.5
Green, J.6
Robins, D.7
Fein, D.8
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