TY - JOUR AU - Oliver, C. AU - Horsler, K. AU - Berg, K. AU - Bellamy, G. AU - Dick, K. AU - Griffiths, E. PY - 2007 DA - 2007// TI - Genomic imprinting and the expression of affect in Angelman syndrome. What’s in the smile? JO - J Child Psychol Psychiatry VL - 48 UR - https://doi.org/10.1111/j.1469-7610.2007.01736.x DO - 10.1111/j.1469-7610.2007.01736.x ID - Oliver2007 ER - TY - JOUR AU - Jones, W. AU - Bellugi, U. AU - Lai, Z. AU - Chiles, M. AU - Reilly, J. AU - Lincoln, A. AU - Adolphs, R. PY - 2000 DA - 2000// TI - Hypersociability in Williams syndrome JO - Cognitive Neuroscience VL - 12 UR - https://doi.org/10.1162/089892900561968 DO - 10.1162/089892900561968 ID - Jones2000 ER - TY - JOUR AU - Cordeiro, L. AU - Ballinger, E. AU - Hagerman, R. AU - Hessl, D. PY - 2011 DA - 2011// TI - Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization JO - J Neurodev Disord VL - 3 UR - https://doi.org/10.1007/s11689-010-9067-y DO - 10.1007/s11689-010-9067-y ID - Cordeiro2011 ER - TY - JOUR AU - Kasari, C. AU - Freeman, S. F. PY - 2001 DA - 2001// TI - Task-related social behavior in children with Down syndrome JO - Am J Ment Retard VL - 106 UR - https://doi.org/2.0.CO;2 DO - 2.0.CO;2 ID - Kasari2001 ER - TY - JOUR AU - Beck, B. PY - 1976 DA - 1976// TI - Epidemiology of Cornelia de Lange’s syndrome JO - Acta Paediatr VL - 65 UR - https://doi.org/10.1111/j.1651-2227.1976.tb04943.x DO - 10.1111/j.1651-2227.1976.tb04943.x ID - Beck1976 ER - TY - JOUR AU - Gillis, L. A. AU - McCallum, J. AU - Kaur, M. AU - DeScipio, C. AU - Yaeger, D. AU - Mariani, A. AU - Kline, A. D. AU - Li, H. -. H. AU - Devoto, M. AU - Jackson, L. G. PY - 2004 DA - 2004// TI - NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations JO - Am J Hum Genet VL - 75 UR - https://doi.org/10.1086/424698 DO - 10.1086/424698 ID - Gillis2004 ER - TY - JOUR AU - Krantz, I. D. AU - McCallum, J. AU - DeScipio, C. AU - Kaur, M. AU - Gillis, L. A. AU - Yaeger, D. AU - Jukofsky, L. AU - Wasserman, N. AU - Bottani, A. AU - Morris, C. A. PY - 2004 DA - 2004// TI - Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B JO - Nat Genet VL - 36 UR - https://doi.org/10.1038/ng1364 DO - 10.1038/ng1364 ID - Krantz2004 ER - TY - JOUR AU - Miyake, N. AU - Visser, R. AU - Kinoshita, A. AU - Yoshiura, K. -. I. AU - Niikawa, N. AU - Kondoh, T. AU - Matsumoto, N. AU - Harada, N. AU - Okamoto, N. AU - Sonoda, T. PY - 2005 DA - 2005// TI - Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome JO - Am J Med Genet A VL - 135 UR - https://doi.org/10.1002/ajmg.a.30637 DO - 10.1002/ajmg.a.30637 ID - Miyake2005 ER - TY - JOUR AU - Deardorff, M. A. AU - Kaur, M. AU - Yaeger, D. AU - Rampuria, A. AU - Korolev, S. AU - Pie, J. AU - Gil-Rodríguez, C. AU - Arnedo, M. AU - Loeys, B. AU - Kline, A. D. PY - 2007 DA - 2007// TI - Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation JO - Am J Hum Genet VL - 80 UR - https://doi.org/10.1086/511888 DO - 10.1086/511888 ID - Deardorff2007 ER - TY - JOUR AU - Musio, A. AU - Selicorni, A. AU - Focarelli, M. L. AU - Gervasini, C. AU - Milani, D. AU - Russo, S. AU - Vezzoni, P. AU - Larizza, L. PY - 2006 DA - 2006// TI - X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations JO - Nat Genet VL - 38 UR - https://doi.org/10.1038/ng1779 DO - 10.1038/ng1779 ID - Musio2006 ER - TY - JOUR AU - Minor, A. AU - Shinawi, M. AU - Hogue, J. S. AU - Vineyard, M. AU - Hamlin, D. R. AU - Tan, C. AU - Donato, K. AU - Wysinger, L. AU - Botes, S. AU - Das, S. AU - Gaudio, D. PY - 2014 DA - 2014// TI - Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case JO - Genet Med VL - 537 ID - Minor2014 ER - TY - JOUR AU - Deardorff, M. A. AU - Bando, M. AU - Nakato, R. AU - Watrin, E. AU - Itoh, T. AU - Minamino, M. AU - Saitoh, K. AU - Komata, M. AU - Katou, Y. AU - Clark, D. PY - 2012 DA - 2012// TI - HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle JO - Nature VL - 489 UR - https://doi.org/10.1038/nature11316 DO - 10.1038/nature11316 ID - Deardorff2012 ER - TY - JOUR AU - Berney, T. P. AU - Ireland, M. AU - Burn, J. PY - 1999 DA - 1999// TI - Behavioural phenotype of Cornelia de Lange syndrome JO - Arch Dis Child VL - 81 UR - https://doi.org/10.1136/adc.81.4.333 DO - 10.1136/adc.81.4.333 ID - Berney1999 ER - TY - STD TI - Hyman P, Oliver C, Hall S. Self-injurious behaviour, self-restraint, and compulsive behaviours in Cornelia de Lange syndrome. Am J Ment Retard. 2002;107 ID - ref14 ER - TY - JOUR AU - Oliver, C. AU - Arron, K. AU - Sloneem, J. AU - Hall, S. PY - 2008 DA - 2008// TI - Behavioural phenotype of Cornelia de Lange syndrome: case-control study JO - Br J Psychiatry VL - 193 UR - https://doi.org/10.1192/bjp.bp.107.044370 DO - 10.1192/bjp.bp.107.044370 ID - Oliver2008 ER - TY - JOUR AU - Goodban, M. T. PY - 1993 DA - 1993// TI - Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome JO - Am J Med Genet VL - 47 UR - https://doi.org/10.1002/ajmg.1320470725 DO - 10.1002/ajmg.1320470725 ID - Goodban1993 ER - TY - JOUR AU - Collis, L. AU - Oliver, C. AU - Moss, J. PY - 2006 DA - 2006// TI - Low mood and social anxiety in Cornelia de Lange syndrome JO - J Intellect Disabil Res VL - 50 ID - Collis2006 ER - TY - JOUR AU - Moss, J. AU - Oliver, C. AU - Berg, K. AU - Kaur, G. AU - Jephcott, L. AU - Cornish, K. PY - 2008 DA - 2008// TI - Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes JO - Am J Ment Retard VL - 113 UR - https://doi.org/10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2 DO - 10.1352/0895-8017(2008)113[278:POASPI]2.0.CO;2 ID - Moss2008 ER - TY - JOUR AU - Richards, C. AU - Moss, J. AU - O’Farrell, L. AU - Kaur, G. AU - Oliver, C. PY - 2009 DA - 2009// TI - Social anxiety in Cornelia de Lange syndrome JO - J Autism Dev Disord VL - 39 UR - https://doi.org/10.1007/s10803-009-0730-7 DO - 10.1007/s10803-009-0730-7 ID - Richards2009 ER - TY - STD TI - Moss J, Nelson L, Powis L, Waite J, Richards C, Oliver C. A comparative study of sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein-Taybi Syndromes and Autism Spectrum Disorder. American Journal on Intellectual and Developmental Disabilities. 2016;121:465–486. ID - ref20 ER - TY - JOUR AU - Richards, C. AU - Jones, C. AU - Groves, L. AU - Moss, J. AU - Oliver, C. PY - 2015 DA - 2015// TI - Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis JO - The Lancet Psychiatry VL - 2 UR - https://doi.org/10.1016/S2215-0366(15)00376-4 DO - 10.1016/S2215-0366(15)00376-4 ID - Richards2015 ER - TY - JOUR AU - Moss, J. AU - Howlin, P. AU - Hastings, R. P. AU - Beaumont, S. AU - Griffith, G. M. AU - Petty, J. AU - Tunnicliffe, P. AU - Yates, R. AU - Villa, D. AU - Oliver, C. PY - 2013 DA - 2013// TI - Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes JO - Am J Intellect Dev Disabil VL - 118 UR - https://doi.org/10.1352/1944-7558-118.4.262 DO - 10.1352/1944-7558-118.4.262 ID - Moss2013 ER - TY - JOUR AU - Lesniak-Karpiak, K. AU - Mazzocco, M. M. M. AU - Ross, J. L. PY - 2003 DA - 2003// TI - Behavioral assessment of social anxiety in females with Turner or fragile X syndrome JO - J Autism Dev Disord VL - 33 UR - https://doi.org/10.1023/A:1022230504787 DO - 10.1023/A:1022230504787 ID - Lesniak-Karpiak2003 ER - TY - JOUR AU - Hessl, D. AU - Glaser, B. AU - Dyer-Friedman, J. AU - Reiss, A. L. PY - 2006 DA - 2006// TI - Social behavior and cortisol reactivity in children with fragile X syndrome JO - J Child Psychol Psychiatry VL - 47 UR - https://doi.org/10.1111/j.1469-7610.2005.01556.x DO - 10.1111/j.1469-7610.2005.01556.x ID - Hessl2006 ER - TY - JOUR AU - Hall, S. AU - DeBernardis, M. AU - Reiss, A. L. PY - 2006 DA - 2006// TI - Social escape behaviors in children with fragile X syndrome JO - J Autism Dev Disord VL - 36 UR - https://doi.org/10.1007/s10803-006-0132-z DO - 10.1007/s10803-006-0132-z ID - Hall2006 ER - TY - JOUR AU - Hall, S. AU - Lightbody, A. A. AU - Huffman, L. C. AU - Lazzeroni, L. C. AU - Reiss, A. L. PY - 2009 DA - 2009// TI - Physiological correlates of social avoidance behavior in children and adolescents with fragile X syndrome JO - J Am Acad Child Adolesc Psychiatry VL - 48 UR - https://doi.org/10.1097/CHI.0b013e318195bd15 DO - 10.1097/CHI.0b013e318195bd15 ID - Hall2009 ER - TY - JOUR AU - Cohen, I. L. AU - Fisch, G. S. AU - Sudhalter, V. AU - Wolf-Schein, E. G. AU - Hanson, D. AU - Hagerman, R. AU - Jenkins, E. C. AU - Brown, W. T. PY - 1988 DA - 1988// TI - Social gaze, social avoidance, and repetitive behavior in fragile X males: a controlled study JO - Am J Ment Retard VL - 92 ID - Cohen1988 ER - TY - JOUR AU - Kover, S. T. AU - McDuffie, A. AU - Abbeduto, L. AU - Brown, W. T. PY - 2012 DA - 2012// TI - Effects of sampling contect on spontaneous expressive language in males with fragile X syndrome or Down syndrome JO - J Speech Lang Hear Res VL - 55 UR - https://doi.org/10.1044/1092-4388(2011/11-0075) DO - 10.1044/1092-4388(2011/11-0075) ID - Kover2012 ER - TY - JOUR AU - Horsler, K. AU - Oliver, C. PY - 2006 DA - 2006// TI - Environmental influences on the behavioural phenotype of Angelman syndrome JO - Am J Ment Retard VL - 111 UR - https://doi.org/10.1352/0895-8017(2006)111[311:EIOTBP]2.0.CO;2 DO - 10.1352/0895-8017(2006)111[311:EIOTBP]2.0.CO;2 ID - Horsler2006 ER - TY - JOUR AU - Falco, S. AU - Venuti, P. AU - Esposito, G. AU - Bornstein, M. H. PY - 2009 DA - 2009// TI - Mother-child and father-child emotional availability in families of children with Down syndrome JO - Parenting: Science and Practice VL - 9 UR - https://doi.org/10.1080/15295190902844381 DO - 10.1080/15295190902844381 ID - Falco2009 ER - TY - JOUR AU - Oliver, C. AU - Demetriades, L. AU - Hall, S. PY - 2002 DA - 2002// TI - The effect of environmental events on smiling and laughing behavior in Angelman syndrome JO - Am J Ment Retard VL - 107 UR - https://doi.org/2.0.CO;2 DO - 2.0.CO;2 ID - Oliver2002 ER - TY - JOUR AU - Venuti, P. AU - Falco, S. AU - Esposito, G. AU - Bornstein, M. H. PY - 2009 DA - 2009// TI - Mother-child play: children with Down syndrome and typical development JO - Am J Intellect Dev Disabil VL - 114 UR - https://doi.org/10.1352/1944-7558-114.4:274-288 DO - 10.1352/1944-7558-114.4:274-288 ID - Venuti2009 ER - TY - JOUR AU - Baron-Cohen, S. AU - Leslie, A. M. AU - Frith, U. PY - 1985 DA - 1985// TI - Does the autistic child have a ‘theory of mind’? JO - Cognition VL - 21 UR - https://doi.org/10.1016/0010-0277(85)90022-8 DO - 10.1016/0010-0277(85)90022-8 ID - Baron-Cohen1985 ER - TY - JOUR AU - Grant, C. M. AU - Apperly, I. AU - Oliver, C. PY - 2007 DA - 2007// TI - Is theory of mind understanding impaired in males with fragile X syndrome? JO - J Abnorm Child Psychol VL - 35 UR - https://doi.org/10.1007/s10802-006-9077-0 DO - 10.1007/s10802-006-9077-0 ID - Grant2007 ER - TY - JOUR AU - Dawson, G. AU - Meltzoff, A. N. AU - Osterling, J. AU - Rinaldi, J. AU - Brown, E. PY - 1998 DA - 1998// TI - Children with autism fail to orient to naturally occurring social stimuli JO - J Autism Dev Disord VL - 28 UR - https://doi.org/10.1023/A:1026043926488 DO - 10.1023/A:1026043926488 ID - Dawson1998 ER - TY - JOUR AU - Gibbs, M. V. AU - Thorpe, J. G. PY - 1983 DA - 1983// TI - Personality stereotype of noninstitutionalized Down syndrome children JO - Am J Ment Defic VL - 102 ID - Gibbs1983 ER - TY - CHAP AU - Kasari, C. AU - Sigman, M. ED - Lewis, M. ED - Sullivan, M. W. PY - 1996 DA - 1996// TI - Expression and understanding of emotion in atypical development BT - Emotional development in atypical children PB - Erlbaum CY - Hillsdale ID - Kasari1996 ER - TY - JOUR AU - Kushlick, A. AU - Blunden, R. AU - Cox, C. PY - 1973 DA - 1973// TI - A method of rating behaviour characteristics for use in large scale surveys of mental handicap JO - Psychol Med VL - 3 UR - https://doi.org/10.1017/S0033291700054271 DO - 10.1017/S0033291700054271 ID - Kushlick1973 ER - TY - BOOK AU - Sparrow, S. S. AU - Cicchetti, D. V. AU - Balla, D. A. PY - 2005 DA - 2005// TI - Vineland-II adaptive behavior scales: survey forms manual PB - AGS Publishing CY - Circle Pines ID - Sparrow2005 ER - TY - BOOK AU - Gioia, G. A. AU - Espy, K. A. AU - Isquith, P. K. AU - BRIEF-P PY - 2003 DA - 2003// TI - Behavior rating inventory of executive function-preschool version: professional manual ID - Gioia2003 ER - TY - JOUR AU - Gioia, G. A. AU - Isquith, P. K. AU - Kenworthy, L. AU - Barton, R. PY - 2002 DA - 2002// TI - Profiles of everyday executive function in acquired and developmental disorders JO - Child Neuropsychol VL - 8 UR - https://doi.org/10.1076/chin.8.2.121.8727 DO - 10.1076/chin.8.2.121.8727 ID - Gioia2002 ER - TY - JOUR AU - Toplak, M. E. AU - West, R. F. AU - Stanovich, K. E. PY - 2013 DA - 2013// TI - Practitioner review: do performance-based measures and ratings of executive function assess the same construct? JO - J Child Psychol Psychiatry VL - 54 UR - https://doi.org/10.1111/jcpp.12001 DO - 10.1111/jcpp.12001 ID - Toplak2013 ER - TY - BOOK AU - Dunn, L. M. AU - Whetton, C. AU - Burley, J. PY - 1997 DA - 1997// TI - The British picture vocabulary scale, second edition testbook PB - Windsor CY - NFER ID - Dunn1997 ER - TY - BOOK AU - Lord, C. AU - Rutter, M. AU - DiLavore, P. AU - Risi, S. PY - 2002 DA - 2002// TI - Autism diagnostic observation schedule: manual PB - Western Psychological Services CY - Los Angeles ID - Lord2002 ER - TY - JOUR AU - Fydrich, T. AU - Chambless, D. L. AU - Perry, K. J. AU - Buergener, F. AU - Beazley, M. B. PY - 1998 DA - 1998// TI - Behavioral assessment of social performance: a rating system for social phobia JO - Behav Res Ther VL - 36 UR - https://doi.org/10.1016/S0005-7967(98)00069-2 DO - 10.1016/S0005-7967(98)00069-2 ID - Fydrich1998 ER - TY - JOUR AU - Conger, J. C. AU - Farrell, A. D. PY - 1981 DA - 1981// TI - Behavioral components of heterosocial skills JO - Behav Ther VL - 12 UR - https://doi.org/10.1016/S0005-7894(81)80105-0 DO - 10.1016/S0005-7894(81)80105-0 ID - Conger1981 ER - TY - JOUR AU - Glass, C. R. AU - Arnkoff, D. B. PY - 1989 DA - 1989// TI - Behavioral assessment of social anxiety and social phobia JO - Clin Psychol Rev VL - 9 UR - https://doi.org/10.1016/0272-7358(89)90048-2 DO - 10.1016/0272-7358(89)90048-2 ID - Glass1989 ER - TY - JOUR AU - Glennon, B. AU - Weisz, J. R. PY - 1978 DA - 1978// TI - An observational approach to the assessment of anxiety in young children JO - J Consult Clin Psychol VL - 46 UR - https://doi.org/10.1037/0022-006X.46.6.1246 DO - 10.1037/0022-006X.46.6.1246 ID - Glennon1978 ER - TY - JOUR AU - Millbrook, J. M. AU - Farrell, A. D. AU - Wallander, J. L. AU - Curran, J. P. PY - 1986 DA - 1986// TI - Behavioral components of social skills: a look at subject and confederate behaviors JO - Behavioural Assessment VL - 8 ID - Millbrook1986 ER - TY - JOUR AU - Monti, P. M. AU - Boice, R. AU - Fingeret, A. L. AU - Zwick, W. R. AU - Kolko, D. AU - Munro, S. AU - Grunberger, A. PY - 1984 DA - 1984// TI - Midi-level measurement of social anxiety in psychiatric and non-psychiatric samples JO - Behavior Research and Therapy VL - 22 UR - https://doi.org/10.1016/0005-7967(84)90128-1 DO - 10.1016/0005-7967(84)90128-1 ID - Monti1984 ER - TY - JOUR AU - Trower, P. AU - Yardley, K. AU - Bryant, B. M. AU - Shaw, P. PY - 1978 DA - 1978// TI - The treatment of social failure: a comparison of anxiety-reduction and skills acquisition procedures on two social problems JO - Behav Modif VL - 2 UR - https://doi.org/10.1177/014544557821003 DO - 10.1177/014544557821003 ID - Trower1978 ER - TY - BOOK AU - Martin, N. AU - Oliver, C. AU - Hall, S. PY - 1988 DA - 1988// TI - Obswin: software for the collection and analysis of observational data PB - University of Birmingham CY - Birmingham ID - Martin1988 ER - TY - BOOK AU - Altman, D. G. PY - 1991 DA - 1991// TI - Practical statistics for medical research PB - Hall CY - London ID - Altman1991 ER - TY - JOUR AU - Kline, A. D. AU - Grados, M. AU - Sponseller, P. AU - Levy, H. P. AU - Balagowidow, N. AU - Schoedel, C. AU - Rampolla, J. AU - Clemens, D. K. AU - Krantz, I. D. AU - Kimball, A. PY - 2007 DA - 2007// TI - Natural history of aging in Cornelia de Lange syndrome JO - Am J Med Genet C Semin Med Genet VL - 145C UR - https://doi.org/10.1002/ajmg.c.30137 DO - 10.1002/ajmg.c.30137 ID - Kline2007 ER -