-
3
-
-
0023226355
-
Reliability of the Aberrant Behavior Checklist and the effect of variations in instructions
-
Aman MG, Singh NN, Turbott SH. 1987. Reliability of the Aberrant Behavior Checklist and the effect of variations in instructions. Am J Ment Defic 92:237-240.
-
(1987)
Am J Ment Defic
, vol.92
, pp. 237-240
-
-
Aman, M.G.1
Singh, N.N.2
Turbott, S.H.3
-
4
-
-
0003472502
-
-
American Psychiatric Association, American Psychiatric Association, and DSM-5 Task Force. Arlington, VA: American Psychiatric Association.
-
American Psychiatric Association, American Psychiatric Association, and DSM-5 Task Force. 2013. Diagnostic and statistical manual of mental disorders: DSM-5. Arlington, VA: American Psychiatric Association.
-
(2013)
Diagnostic and statistical manual of mental disorders: DSM-5
-
-
-
5
-
-
33646856184
-
Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome
-
Arron K, Oliver C, Hall S, Sloneem J, Forman D, McClintock K. 2006. Effects of social context on social interaction and self-injurious behavior in Cornelia de Lange syndrome. Am J Ment Retard 111:184-192.
-
(2006)
Am J Ment Retard
, vol.111
, pp. 184-192
-
-
Arron, K.1
Oliver, C.2
Hall, S.3
Sloneem, J.4
Forman, D.5
McClintock, K.6
-
6
-
-
34547923133
-
The behavioural phenotype of Cornelia de Lange syndrome: A study of 56 individuals
-
Basile E, Villa L, Selicorni A, Molteni M. 2007. The behavioural phenotype of Cornelia de Lange syndrome: A study of 56 individuals. J Intellect Disabil Res 51:671-681.
-
(2007)
J Intellect Disabil Res
, vol.51
, pp. 671-681
-
-
Basile, E.1
Villa, L.2
Selicorni, A.3
Molteni, M.4
-
7
-
-
0023613857
-
Psycho-social assessment of 36 de Lange patients
-
Beck B. 1987. Psycho-social assessment of 36 de Lange patients. J Ment Defic Res 31:251-257.
-
(1987)
J Ment Defic Res
, vol.31
, pp. 251-257
-
-
Beck, B.1
-
8
-
-
0032835107
-
Behavioural phenotype of Cornelia de Lange syndrome
-
Berney TP, Ireland M, Burn J. 1999. Behavioural 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
-
9
-
-
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
-
10
-
-
78649750783
-
Social norm processing in adult social phobia: Atypically increased ventromedial frontal cortex responsiveness to unintentional (embarrassing) transgressions
-
Blair KS, Geraci M, Hollon N, Otero M, DeVido J, Majestic C, Jacobs M, Blair RJR, Pine DS. 2010. Social norm processing in adult social phobia: Atypically increased ventromedial frontal cortex responsiveness to unintentional (embarrassing) transgressions. Am J Psychiatry 167:1526-1532.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1526-1532
-
-
Blair, K.S.1
Geraci, M.2
Hollon, N.3
Otero, M.4
DeVido, J.5
Majestic, C.6
Jacobs, M.7
Blair, R.J.R.8
Pine, D.S.9
-
11
-
-
0031959051
-
Autism, affective and other psychiatric disorders: Patterns of familial aggregation
-
Bolton PF, Pickles A, Murphy M, Rutter M. 1998. Autism, affective and other psychiatric disorders: Patterns of familial aggregation. Psychol Med 28:385-395.
-
(1998)
Psychol Med
, vol.28
, pp. 385-395
-
-
Bolton, P.F.1
Pickles, A.2
Murphy, M.3
Rutter, M.4
-
12
-
-
79951954134
-
Neural correlates of altered general emotion processing in social anxiety disorder
-
Brühl AB, Rufer M, Delsignore A, Kaffenberger T, Jäncke L, Herwig U. 2011. Neural correlates of altered general emotion processing in social anxiety disorder. Brain Res 1378:72-83.
-
(2011)
Brain Res
, vol.1378
, pp. 72-83
-
-
Brühl, A.B.1
Rufer, M.2
Delsignore, A.3
Kaffenberger, T.4
Jäncke, L.5
Herwig, U.6
-
14
-
-
33748307434
-
Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal
-
Budimirovic DB, Bukelis I, Cox C, Gray RM, Tierney E, Kaufmann WE. 2006. Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal. Am J Med Genet Part A 140A:1814-1826.
-
(2006)
Am J Med Genet Part A
, vol.140 A
, pp. 1814-1826
-
-
Budimirovic, D.B.1
Bukelis, I.2
Cox, C.3
Gray, R.M.4
Tierney, E.5
Kaufmann, W.E.6
-
15
-
-
41049102573
-
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
-
Chang S, Bray SM, Li Z, Zarnescu DC, He C, Jin P, Warren ST. 2008. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol 4:256-263.
-
(2008)
Nat Chem Biol
, vol.4
, pp. 256-263
-
-
Chang, S.1
Bray, S.M.2
Li, Z.3
Zarnescu, D.C.4
He, C.5
Jin, P.6
Warren, S.T.7
-
16
-
-
39049173831
-
Facial expression of affect in children with Cornelia de Lange syndrome
-
Collis L, Moss J, Jutley J, Cornish K, Oliver C. 2008. Facial expression of affect in children with Cornelia de Lange syndrome. J Intellect Disabil Res 52:207-215.
-
(2008)
J Intellect Disabil Res
, vol.52
, pp. 207-215
-
-
Collis, L.1
Moss, J.2
Jutley, J.3
Cornish, K.4
Oliver, C.5
-
17
-
-
33847196427
-
Mutations in cohesin 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-Rodríguez 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 cohesin 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-Rodríguez, 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
-
18
-
-
84866183822
-
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
-
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. 2012. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489:313-317.
-
(2012)
Nature
, vol.489
, pp. 313-317
-
-
Deardorff, M.A.1
Bando, M.2
Nakato, R.3
Watrin, E.4
Itoh, T.5
Minamino, M.6
Saitoh, K.7
Komata, M.8
Katou, Y.9
Clark, D.10
Cole, K.E.11
De Baere, E.12
Decroos, C.13
Di Donato, N.14
Ernst, S.15
Francey, L.J.16
Gyftodimou, Y.17
Hirashima, K.18
Hullings, M.19
Ishikawa, Y.20
Jaulin, C.21
Kaur, M.22
Kiyono, T.23
Lombardi, P.M.24
Magnaghi-Jaulin, L.25
Mortier, G.R.26
Nozaki, N.27
Petersen, M.B.28
Seimiya, H.29
Siu, V.M.30
Suzuki, Y.31
Takagaki, K.32
Wilde, J.J.33
Willems, P.J.34
Prigent, C.35
Gillessen-Kaesbach, G.36
Christianson, D.W.37
Kaiser, F.J.38
Jackson, L.G.39
Hirota, T.40
Krantz, I.D.41
Shirahige, K.42
more..
-
19
-
-
34147220437
-
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings
-
Dimitropoulos A, Schultz RT. 2007. Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings. Curr Psychiatry Rep 9:159-164.
-
(2007)
Curr Psychiatry Rep
, vol.9
, pp. 159-164
-
-
Dimitropoulos, A.1
Schultz, R.T.2
-
20
-
-
34548672108
-
Evolution in the social brain
-
Dunbar RIM, Shultz S. 2007. Evolution in the social brain. Science 317:1344-1347.
-
(2007)
Science
, vol.317
, pp. 1344-1347
-
-
Dunbar, R.I.M.1
Shultz, S.2
-
21
-
-
33747825713
-
Profiles and development of adaptive behavior in children with Down syndrome
-
Dykens EM, Hodapp RM, Evans DW. 2006. Profiles and development of adaptive behavior in children with Down syndrome. Downs Syndr Res Pract 9:45-50.
-
(2006)
Downs Syndr Res Pract
, vol.9
, pp. 45-50
-
-
Dykens, E.M.1
Hodapp, R.M.2
Evans, D.W.3
-
22
-
-
0024369897
-
The trajectory of cognitive development in males with fragile X syndrome
-
Dykens EM, Hodap RM, Ort S, Finucane B, Shapiro LR, Leckman JF. 1989. The trajectory of cognitive development in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry 28:422-426.
-
(1989)
J Am Acad Child Adolesc Psychiatry
, vol.28
, pp. 422-426
-
-
Dykens, E.M.1
Hodap, R.M.2
Ort, S.3
Finucane, B.4
Shapiro, L.R.5
Leckman, J.F.6
-
24
-
-
0013913483
-
Early developmental staging as a prophecy index in Down's syndrome
-
Gibson D. 1966. Early developmental staging as a prophecy index in Down's syndrome. Am J Ment Defic 70:825-828.
-
(1966)
Am J Ment Defic
, vol.70
, pp. 825-828
-
-
Gibson, D.1
-
25
-
-
0027429313
-
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome
-
Goodban MT. 1993. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 47:1059-1063.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1059-1063
-
-
Goodban, M.T.1
-
26
-
-
77956209418
-
Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
-
Gross C, Nakamoto M, Yao X, Chan C-B, Yim SY, Ye K, Warren ST, Bassell GJ. 2010. Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci 30:10624-10638.
-
(2010)
J Neurosci
, vol.30
, pp. 10624-10638
-
-
Gross, C.1
Nakamoto, M.2
Yao, X.3
Chan, C.-B.4
Yim, S.Y.5
Ye, K.6
Warren, S.T.7
Bassell, G.J.8
-
27
-
-
42449095521
-
Health and sleep problems in Cornelia de Lange Syndrome: A case control study
-
Hall SS, Arron K, Sloneem J, Oliver C. 2008. Health and sleep problems in Cornelia de Lange Syndrome: A case control study. J Intellect Disabil Res 52:458-468.
-
(2008)
J Intellect Disabil Res
, vol.52
, pp. 458-468
-
-
Hall, S.S.1
Arron, K.2
Sloneem, J.3
Oliver, C.4
-
28
-
-
77956176282
-
Autism in fragile X syndrome: A category mistake
-
Hall SS, Lightbody AA, Hirt M, Rezvani A, Reiss AL. 2010. Autism in fragile X syndrome: A category mistake? J Am Acad Child Adolesc Psychiatry 49:921-933.
-
(2010)
J Am Acad Child Adolesc Psychiatry
, vol.49
, pp. 921-933
-
-
Hall, S.S.1
Lightbody, A.A.2
Hirt, M.3
Rezvani, A.4
Reiss, A.L.5
-
29
-
-
0042884391
-
Social neuroscience, empathy, brain integration, and neurodevelopmental disorders
-
Harris JC. 2003. Social neuroscience, empathy, brain integration, and neurodevelopmental disorders. Physiol Behav 79:525-531.
-
(2003)
Physiol Behav
, vol.79
, pp. 525-531
-
-
Harris, J.C.1
-
30
-
-
0021950757
-
Sixty-four patients with Brachmann-de Lange syndrome: A survey
-
Hawley PP, Jackson LG, Kurnit DM. 1985. Sixty-four patients with Brachmann-de Lange syndrome: A survey. Am J Med Genet 20:453-459.
-
(1985)
Am J Med Genet
, vol.20
, pp. 453-459
-
-
Hawley, P.P.1
Jackson, L.G.2
Kurnit, D.M.3
-
31
-
-
73849144314
-
Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism
-
Hazlett HC, Poe MD, Lightbody AA, Gerig G, Macfall JR, Ross AK, Provenzale J, Martin A, Reiss AL, Piven J. 2009. Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism. J Neurodev Disord 1:81-90.
-
(2009)
J Neurodev Disord
, vol.1
, pp. 81-90
-
-
Hazlett, H.C.1
Poe, M.D.2
Lightbody, A.A.3
Gerig, G.4
Macfall, J.R.5
Ross, A.K.6
Provenzale, J.7
Martin, A.8
Reiss, A.L.9
Piven, J.10
-
32
-
-
0025219092
-
Developmental implications of changing trajectories of IQ in males with fragile X syndrome
-
Hodapp RM, Dykens EM, Hagerman RJ, Schreiner R, Lachiewicz AM, Leckman JF. 1990. Developmental implications of changing trajectories of IQ in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry 29:214-219.
-
(1990)
J Am Acad Child Adolesc Psychiatry
, vol.29
, pp. 214-219
-
-
Hodapp, R.M.1
Dykens, E.M.2
Hagerman, R.J.3
Schreiner, R.4
Lachiewicz, A.M.5
Leckman, J.F.6
-
33
-
-
79952333733
-
Neuroanatomical differences in toddler boys with fragile × syndrome and idiopathic autism
-
Hoeft F, Walter E, Lightbody AA, Hazlett HC, Chang C, Piven J, Reiss AL. 2011. Neuroanatomical differences in toddler boys with fragile × syndrome and idiopathic autism. Arch Gen Psychiatry 68:295-305.
-
(2011)
Arch Gen Psychiatry
, vol.68
, pp. 295-305
-
-
Hoeft, F.1
Walter, E.2
Lightbody, A.A.3
Hazlett, H.C.4
Chang, C.5
Piven, J.6
Reiss, A.L.7
-
34
-
-
0034896974
-
Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: The parents' perspective
-
Hyman P, Oliver C. 2001. Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: The parents' perspective. J Intellect Disabil Res 45:326-334.
-
(2001)
J Intellect Disabil Res
, vol.45
, pp. 326-334
-
-
Hyman, P.1
Oliver, C.2
-
35
-
-
18244408870
-
Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
-
Hyman P, Olive C, Hall S. 2002. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard 107:146-154.
-
(2002)
Am J Ment Retard
, vol.107
, pp. 146-154
-
-
Hyman, P.1
Olive, C.2
Hall, S.3
-
37
-
-
42449103568
-
Characterization of autism in young children with tuberous sclerosis complex
-
Jeste SS, Sahin M, Bolton P, Ploubidis GB, Humphrey A. 2008. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol 23:520-525.
-
(2008)
J Child Neurol
, vol.23
, pp. 520-525
-
-
Jeste, S.S.1
Sahin, M.2
Bolton, P.3
Ploubidis, G.B.4
Humphrey, A.5
-
38
-
-
0017175784
-
A behavioral phenotype in the de Lange syndrome
-
Johnson HG, Ekman P, Friesen W. 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
-
39
-
-
0000984981
-
Autistic disturbances of affective contact
-
Kanner L. 1943. Autistic disturbances of affective contact. Nervous Child 2:217-253.
-
(1943)
Nervous Child
, vol.2
, pp. 217-253
-
-
Kanner, L.1
-
40
-
-
0015038274
-
Follow-up study of eleven autistic children originally reported in 1943
-
Kanner L. 1971. Follow-up study of eleven autistic children originally reported in 1943. J Autism Child Schizophr 1:119-145.
-
(1971)
J Autism Child Schizophr
, vol.1
, pp. 119-145
-
-
Kanner, L.1
-
41
-
-
0027503882
-
Developmental data on individuals with the Brachmann-de Lange syndrome
-
Kline AD, Stanley C, Belevich J, Brodsky K, Barr M, Jackson LG. 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.G.6
-
42
-
-
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. 2007a. 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
-
43
-
-
34548070779
-
Natural history of aging in Cornelia de Lange syndrome
-
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D. 2007b. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet Part C Semin Med Genet 145C:248-260.
-
(2007)
Am J Med Genet Part C Semin Med Genet
, vol.145 C
, pp. 248-260
-
-
Kline, A.D.1
Grados, M.2
Sponseller, P.3
Levy, H.P.4
Blagowidow, N.5
Schoedel, C.6
Rampolla, J.7
Clemens, D.K.8
Krantz, I.9
Kimball, A.10
Pichard, C.11
Tuchman, D.12
-
44
-
-
2642542322
-
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
-
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. 2004. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635.
-
(2004)
Nat Genet
, vol.36
, pp. 631-635
-
-
Krantz, I.D.1
McCallum, J.2
DeScipio, C.3
Kaur, M.4
Gillis, L.A.5
Yaeger, D.6
Jukofsky, L.7
Wasserman, N.8
Bottani, A.9
Morris, C.A.10
Nowaczyk, M.J.11
Toriello, H.12
Bamshad, M.J.13
Carey, J.C.14
Rappaport, E.15
Kawauchi, S.16
Lander, A.D.17
Calof, A.L.18
Li, H.H.19
Devoto, M.20
Jackson, L.G.21
more..
-
45
-
-
33645394582
-
Amygdala size and hypothalamus size predict social play frequency in nonhuman primates: A comparative analysis using independent contrasts
-
Lewis KP, Barton RA. 2006. Amygdala size and hypothalamus size predict social play frequency in nonhuman primates: A comparative analysis using independent contrasts. J Comp Psychol 120:31-37.
-
(2006)
J Comp Psychol
, vol.120
, pp. 31-37
-
-
Lewis, K.P.1
Barton, R.A.2
-
46
-
-
0041821653
-
Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms
-
Luzzan S, Macchini F, Valadè A, Milani D, Selicorni A. 2003. Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms. Am J Med Genet Part A 119A:283-287.
-
(2003)
Am J Med Genet Part A
, vol.119 A
, pp. 283-287
-
-
Luzzan, S.1
Macchini, F.2
Valadè, A.3
Milani, D.4
Selicorni, A.5
-
47
-
-
0025935960
-
Complex stereotypies after right putaminal infarction: A case report
-
Maraganore DM, Lees AJ, Marsden CD. 1991. Complex stereotypies after right putaminal infarction: A case report. Mov Disord 6:358-361.
-
(1991)
Mov Disord
, vol.6
, pp. 358-361
-
-
Maraganore, D.M.1
Lees, A.J.2
Marsden, C.D.3
-
48
-
-
79951679866
-
Development of the eating behaviour in Prader-Willi syndrome: Advances in our understanding
-
McAllister CJ, Whittington JE, Holland AJ. 2011. Development of the eating behaviour in Prader-Willi syndrome: Advances in our understanding. Int J Obes (Lond) 35:188-197.
-
(2011)
Int J Obes (Lond)
, vol.35
, pp. 188-197
-
-
McAllister, C.J.1
Whittington, J.E.2
Holland, A.J.3
-
49
-
-
1242263492
-
The broad autism phenotype: Findings from an epidemiological survey
-
Micali N, Chakrabarti S, Fombonne E. 2004. The broad autism phenotype: Findings from an epidemiological survey. Autism 8:21-37.
-
(2004)
Autism
, vol.8
, pp. 21-37
-
-
Micali, N.1
Chakrabarti, S.2
Fombonne, E.3
-
50
-
-
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
-
51
-
-
16844371502
-
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome
-
Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty J. 2005. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. J Intellect Disabil Res 49:269-277.
-
(2005)
J Intellect Disabil Res
, vol.49
, pp. 269-277
-
-
Moss, J.1
Oliver, C.2
Hall, S.3
Arron, K.4
Sloneem, J.5
Petty, J.6
-
52
-
-
84863827334
-
Characteristics of autism spectrum disorder in Cornelia de Lange syndrome
-
Moss J, Howlin P, Magiati I, Oliver C. 2012. Characteristics of autism spectrum disorder in Cornelia de Lange syndrome. J Child Psychol Psychiatry 53:883-891.
-
(2012)
J Child Psychol Psychiatry
, vol.53
, pp. 883-891
-
-
Moss, J.1
Howlin, P.2
Magiati, I.3
Oliver, C.4
-
53
-
-
84873856959
-
Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes
-
Moss J, Oliver C, Nelson L, Richards C, Hall S. 2013. Delineating the profile of autism spectrum disorder characteristics in Cornelia de Lange and Fragile X syndromes. Am J Intellect Dev Disabil 118:55-73.
-
(2013)
Am J Intellect Dev Disabil
, vol.118
, pp. 55-73
-
-
Moss, J.1
Oliver, C.2
Nelson, L.3
Richards, C.4
Hall, S.5
-
54
-
-
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, Cornish K. 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
Cornish, K.6
-
55
-
-
33646379870
-
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
-
Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. 2006. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Nat Genet 38:528-530.
-
(2006)
Nat Genet
, vol.38
, pp. 528-530
-
-
Musio, A.1
Selicorni, A.2
Focarelli, M.L.3
Gervasini, C.4
Milani, D.5
Russo, S.6
Vezzoni, P.7
Larizza, L.8
-
56
-
-
36549010421
-
Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex
-
Muzykewicz DA, Newberry P, Danforth N, Halpern EF, Thiele EA. 2007. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav 11:506-513.
-
(2007)
Epilepsy Behav
, vol.11
, pp. 506-513
-
-
Muzykewicz, D.A.1
Newberry, P.2
Danforth, N.3
Halpern, E.F.4
Thiele, E.A.5
-
57
-
-
49649106751
-
S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
-
Narayanan U, Nalavadi V, Nakamoto M, Thomas G, Ceman S, Bassell GJ, Warren ST. 2008. S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade. J Biol Chem 283:18478-18482.
-
(2008)
J Biol Chem
, vol.283
, pp. 18478-18482
-
-
Narayanan, U.1
Nalavadi, V.2
Nakamoto, M.3
Thomas, G.4
Ceman, S.5
Bassell, G.J.6
Warren, S.T.7
-
58
-
-
77955050175
-
Neurobiological correlates of social functioning in autism
-
Neuhaus E, Beauchaine TP, Bernier R. 2010. Neurobiological correlates of social functioning in autism. Clin Psychol Rev 30:733-748.
-
(2010)
Clin Psychol Rev
, vol.30
, pp. 733-748
-
-
Neuhaus, E.1
Beauchaine, T.P.2
Bernier, R.3
-
59
-
-
0015278845
-
Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research, May 1, 1971
-
Nyhan WL. 1972. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research, May 1, 1971. Pediatr Res 6:1-9.
-
(1972)
Pediatr Res
, vol.6
, pp. 1-9
-
-
Nyhan, W.L.1
-
60
-
-
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
-
61
-
-
79961170673
-
Delineation of behavioral phenotypes in genetic syndromes: Characteristics of autism spectrum disorder, affect and hyperactivity
-
Oliver C, Berg K, Moss J, Arron K, Burbidge C. 2011. Delineation of behavioral phenotypes in genetic syndromes: Characteristics of autism spectrum disorder, affect and hyperactivity. J Autism Dev Disord 41:1019-1032.
-
(2011)
J Autism Dev Disord
, vol.41
, pp. 1019-1032
-
-
Oliver, C.1
Berg, K.2
Moss, J.3
Arron, K.4
Burbidge, C.5
-
62
-
-
0034783917
-
Face processing occurs outside the fusiform "face area" in autism: Evidence from functional MRI
-
Pierce K, Müller RA, Ambrose J, Allen G, Courchesne E. 2001. Face processing occurs outside the fusiform "face area" in autism: Evidence from functional MRI. Brain 124:2059-2073.
-
(2001)
Brain
, vol.124
, pp. 2059-2073
-
-
Pierce, K.1
Müller, R.A.2
Ambrose, J.3
Allen, G.4
Courchesne, E.5
-
64
-
-
70349598257
-
Social anxiety in Cornelia de Lange syndrome
-
Richards C, Moss J, O'Farrell L, Kaur G, Oliver C. 2009. Social anxiety in Cornelia de Lange syndrome. J Autism Dev Disord 39:1155-1162.
-
(2009)
J Autism Dev Disord
, vol.39
, pp. 1155-1162
-
-
Richards, C.1
Moss, J.2
O'Farrell, L.3
Kaur, G.4
Oliver, C.5
-
65
-
-
0036843210
-
Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome
-
Sarimski K. 2002. Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome. J Commun Disord 35:483-500.
-
(2002)
J Commun Disord
, vol.35
, pp. 483-500
-
-
Sarimski, K.1
-
67
-
-
79955992311
-
Comparing autism, PDD-NOS, and other developmental disabilities on parent-reported behavior problems: Little evidence for ASD subtype validity
-
Snow AV, Lecavalier L. 2011. Comparing autism, PDD-NOS, and other developmental disabilities on parent-reported behavior problems: Little evidence for ASD subtype validity. J Autism Dev Disord 41:302-310.
-
(2011)
J Autism Dev Disord
, vol.41
, pp. 302-310
-
-
Snow, A.V.1
Lecavalier, L.2
-
68
-
-
84899991770
-
-
The Vineland Adaptive Behavior Scales: Interview Edition (American Guidance Service).
-
Sparrow S, Balla D, Cicchett D. 1984. The Vineland Adaptive Behavior Scales: Interview Edition (American Guidance Service).
-
(1984)
-
-
Sparrow, S.1
Balla, D.2
Cicchett, D.3
-
69
-
-
55349087527
-
Myelination progression in language-correlated regions in brain of normal children determined by quantitative MRI assessment
-
Su P, Kuan C-C, Kaga K, Sano M, Mima K. 2008. Myelination progression in language-correlated regions in brain of normal children determined by quantitative MRI assessment. Int J Pediatr Otorhinolaryngol 72:1751-1763.
-
(2008)
Int J Pediatr Otorhinolaryngol
, vol.72
, pp. 1751-1763
-
-
Su, P.1
Kuan, C.-C.2
Kaga, K.3
Sano, M.4
Mima, K.5
-
70
-
-
2642565901
-
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
-
Tonkin ET, Wang T-J, Lisgo S, Bamshad MJ, Strachan T. 2004. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636-641.
-
(2004)
Nat Genet
, vol.36
, pp. 636-641
-
-
Tonkin, E.T.1
Wang, T.-J.2
Lisgo, S.3
Bamshad, M.J.4
Strachan, T.5
-
71
-
-
34447309048
-
Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: Evidence for impaired recombinational repair
-
Vrouwe MG, Elghalbzouri-Maghrani E, Meijers M, Schouten P, Godthelp BC, Bhuiyan ZA, Redeker EJ, Mannens MM, Mullenders LHF, Pastink A, Darroudi F. 2007. Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: Evidence for impaired recombinational repair. Hum Mol Genet 16:1478-1487.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1478-1487
-
-
Vrouwe, M.G.1
Elghalbzouri-Maghrani, E.2
Meijers, M.3
Schouten, P.4
Godthelp, B.C.5
Bhuiyan, Z.A.6
Redeker, E.J.7
Mannens, M.M.8
Mullenders, L.H.F.9
Pastink, A.10
Darroudi, F.11
-
72
-
-
0036938754
-
Neuropathological analysis of an adult case of the Cornelia de Lange syndrome
-
Vuilleumier N, Kövari E, Michon A, Hof PR, Mentenopoulos G, Giannakopoulos P, Bouras C. 2002. Neuropathological analysis of an adult case of the Cornelia de Lange syndrome. Acta Neuropathol 104:327-332.
-
(2002)
Acta Neuropathol
, vol.104
, pp. 327-332
-
-
Vuilleumier, N.1
Kövari, E.2
Michon, A.3
Hof, P.R.4
Mentenopoulos, G.5
Giannakopoulos, P.6
Bouras, C.7
-
73
-
-
33746662847
-
Cohesin and DNA damage repair
-
Watrin E, Peters J-M. 2006. Cohesin and DNA damage repair. Exp Cell Res 312:2687-2693.
-
(2006)
Exp Cell Res
, vol.312
, pp. 2687-2693
-
-
Watrin, E.1
Peters, J.-M.2
-
74
-
-
9344268249
-
Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo
-
Wong DF, Harris JC, Naidu S, Yokoi F, Marenco S, Dannals RF, Ravert HT, Yaster M, Evans A, Rousset O, Bryan RN, Gjedde A, Kuhar MJ, Breese GR. 1996. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci USA 93:5539-5543.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 5539-5543
-
-
Wong, D.F.1
Harris, J.C.2
Naidu, S.3
Yokoi, F.4
Marenco, S.5
Dannals, R.F.6
Ravert, H.T.7
Yaster, M.8
Evans, A.9
Rousset, O.10
Bryan, R.N.11
Gjedde, A.12
Kuhar, M.J.13
Breese, G.R.14
-
75
-
-
67449115721
-
Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome
-
Wulffaert J, van Berckelaer-Onnes I, Kroonenberg P, Scholte E, Bhuiyan Z, Hennekam R. 2009. Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome. J Intellect Disabil Res 53:604-619.
-
(2009)
J Intellect Disabil Res
, vol.53
, pp. 604-619
-
-
Wulffaert, J.1
van Berckelaer-Onnes, I.2
Kroonenberg, P.3
Scholte, E.4
Bhuiyan, Z.5
Hennekam, R.6
-
76
-
-
0032978829
-
Brain dysgenesis in Cornelia de Lange syndrome
-
Yamaguchi K, Ishitobi F. 1999. Brain dysgenesis in Cornelia de Lange syndrome. Clin Neuropathol 18:99-105.
-
(1999)
Clin Neuropathol
, vol.18
, pp. 99-105
-
-
Yamaguchi, K.1
Ishitobi, F.2
-
77
-
-
33746494621
-
Autism, the superior temporal sulcus and social perception
-
Zilbovicius M, Meresse I, Chabane N, Brunelle F, Samson Y, Boddaert N. 2006. Autism, the superior temporal sulcus and social perception. Trends Neurosci 29:359-366.
-
(2006)
Trends Neurosci
, vol.29
, pp. 359-366
-
-
Zilbovicius, M.1
Meresse, I.2
Chabane, N.3
Brunelle, F.4
Samson, Y.5
Boddaert, N.6
|