메뉴 건너뛰기




Volumn 44, Issue , 2013, Pages 167-211

Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis Syndromes

Author keywords

Aggression; Behavioral phenotype; Impulsivity; Intellectual disability; Self injury; Sleep; Temper outbursts

Indexed keywords


EID: 84878129732     PISSN: 22116095     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-12-401662-0.00006-3     Document Type: Chapter
Times cited : (34)

References (204)
  • 2
  • 4
    • 84868238127 scopus 로고    scopus 로고
    • Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome
    • Allen K.D., Kuhn B.R., DeHaai K.A., Wallace D.P. Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman Syndrome. Research in Developmental Disabilities 2013, 34:676-686.
    • (2013) Research in Developmental Disabilities , vol.34 , pp. 676-686
    • Allen, K.D.1    Kuhn, B.R.2    DeHaai, K.A.3    Wallace, D.P.4
  • 5
    • 78751471413 scopus 로고    scopus 로고
    • Delineation of behavioural phenotypes in genetic syndromes. Prevalence, phenomenology and correlates of self-injurious and aggressive behaviour
    • Arron K., Oliver C., Berg K., Moss J., Burbidge C. Delineation of behavioural phenotypes in genetic syndromes. Prevalence, phenomenology and correlates of self-injurious and aggressive behaviour. Journal of Intellectual Disability Research 2011, 55:109-120.
    • (2011) Journal of Intellectual Disability Research , vol.55 , pp. 109-120
    • Arron, K.1    Oliver, C.2    Berg, K.3    Moss, J.4    Burbidge, C.5
  • 6
    • 33646856184 scopus 로고    scopus 로고
    • Effects of social interaction on pragmatic communication and self-injurious behavior in Cornelia de Lange syndrome
    • Arron K., Oliver C., Hall S., Sloneem J., Forman D., McClintock K. Effects of social interaction on pragmatic communication and self-injurious behavior in Cornelia de Lange syndrome. American Journal on Mental Retardation 2006, 111:184-192.
    • (2006) American Journal on Mental Retardation , vol.111 , pp. 184-192
    • Arron, K.1    Oliver, C.2    Hall, S.3    Sloneem, J.4    Forman, D.5    McClintock, K.6
  • 10
    • 0027488443 scopus 로고
    • Mild Brachmann-de Lange syndrome - delineation of the clinical phenotype, and characteristic behaviors in a 6-year-old boy
    • Bay C., Mauk J., Radcliffe J., Kaplan P. Mild Brachmann-de Lange syndrome - delineation of the clinical phenotype, and characteristic behaviors in a 6-year-old boy. American Journal of Medical Genetics 1993, 47(7):965-968.
    • (1993) American Journal of Medical Genetics , vol.47 , Issue.7 , pp. 965-968
    • Bay, C.1    Mauk, J.2    Radcliffe, J.3    Kaplan, P.4
  • 12
    • 0021948046 scopus 로고
    • Mortality, pathological findings and causes of death in the de Lange Syndrome
    • Beck B., Fenger K. Mortality, pathological findings and causes of death in the de Lange Syndrome. Acta Paediatrica Scandinavia 1985, 74:765-769.
    • (1985) Acta Paediatrica Scandinavia , vol.74 , pp. 765-769
    • Beck, B.1    Fenger, K.2
  • 17
    • 0037065539 scopus 로고    scopus 로고
    • Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy
    • Boer H., Holland A., Whittington J., Butler J., Webb T., Clarke D. Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy. The Lancet 2002, 359:135-136.
    • (2002) The Lancet , vol.359 , pp. 135-136
    • Boer, H.1    Holland, A.2    Whittington, J.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 18
    • 44249093752 scopus 로고    scopus 로고
    • Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial
    • Braam W., Didden R., Smits M.G., Curfs L.M. Melatonin for chronic insomnia in Angelman syndrome: a randomized placebo-controlled trial. Journal of Child Neurology 2008, 23:649-654.
    • (2008) Journal of Child Neurology , vol.23 , pp. 649-654
    • Braam, W.1    Didden, R.2    Smits, M.G.3    Curfs, L.M.4
  • 19
    • 3342920930 scopus 로고    scopus 로고
    • Just how happy is the happy puppet? an emotion signalling and kinship theory perspective on the behavioral phenotype of children with Angelman syndrome
    • Brown W.M., Consedine N.S. Just how happy is the happy puppet? an emotion signalling and kinship theory perspective on the behavioral phenotype of children with Angelman syndrome. Medical Hypotheses 2004, 63:377-385.
    • (2004) Medical Hypotheses , vol.63 , pp. 377-385
    • Brown, W.M.1    Consedine, N.S.2
  • 26
    • 10044291716 scopus 로고    scopus 로고
    • Fast cerebella oscillation associated with ataxia in a mouse model of Angelman syndrome
    • Cheron G., Servais L., Wagstaff J., Dan B. Fast cerebella oscillation associated with ataxia in a mouse model of Angelman syndrome. Neuroscience 2005, 130:631-637.
    • (2005) Neuroscience , vol.130 , pp. 631-637
    • Cheron, G.1    Servais, L.2    Wagstaff, J.3    Dan, B.4
  • 27
    • 0032323563 scopus 로고    scopus 로고
    • Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and Cri du Chat syndromes
    • Clarke D.J., Boer H. Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and Cri du Chat syndromes. American Journal on Mental Retardation 1998, 103:264-271.
    • (1998) American Journal on Mental Retardation , vol.103 , pp. 264-271
    • Clarke, D.J.1    Boer, H.2
  • 29
    • 0034945669 scopus 로고    scopus 로고
    • Angelman syndrome: evolution of the phenotype in adolescents and adults
    • Clayton-Smith J. Angelman syndrome: evolution of the phenotype in adolescents and adults. Developmental Medicine and Child Neurology 2001, 43:476-480.
    • (2001) Developmental Medicine and Child Neurology , vol.43 , pp. 476-480
    • Clayton-Smith, J.1
  • 30
    • 0025218940 scopus 로고
    • Five cases demonstrating the distinctive behavioural features of chromosome deletion 17 (p.11.2 p.11.2) (Smith-Magenis syndrome)
    • Colley A., Leversha M., Voullaire L., Rogers J. Five cases demonstrating the distinctive behavioural features of chromosome deletion 17 (p.11.2 p.11.2) (Smith-Magenis syndrome). Journal of Pediatric Child Health 1990, 26:17-21.
    • (1990) Journal of Pediatric Child Health , vol.26 , pp. 17-21
    • Colley, A.1    Leversha, M.2    Voullaire, L.3    Rogers, J.4
  • 33
    • 77949571339 scopus 로고    scopus 로고
    • Sleep patterns and behaviour in typically developing children and children with autism, Down syndrome, Prader-Willi syndrome and intellectual disability
    • Cotton S.M., Richdale A.L. Sleep patterns and behaviour in typically developing children and children with autism, Down syndrome, Prader-Willi syndrome and intellectual disability. Research in Autism Spectrum Disorders 2010, 4:490-500.
    • (2010) Research in Autism Spectrum Disorders , vol.4 , pp. 490-500
    • Cotton, S.M.1    Richdale, A.L.2
  • 35
  • 36
    • 0141514729 scopus 로고    scopus 로고
    • Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis
    • Dan B., Boyd S.G. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. Neuropediatrics 2003, 34:169-176.
    • (2003) Neuropediatrics , vol.34 , pp. 169-176
    • Dan, B.1    Boyd, S.G.2
  • 37
    • 3242710402 scopus 로고    scopus 로고
    • Postural rhythmic muscle bursting activity in Angelman syndrome
    • Dan B., Cheron G. Postural rhythmic muscle bursting activity in Angelman syndrome. Brain and Development 2004, 26:389-393.
    • (2004) Brain and Development , vol.26 , pp. 389-393
    • Dan, B.1    Cheron, G.2
  • 41
    • 84866183822 scopus 로고    scopus 로고
    • HDAC8 mutations in Cornelia de Lange syndrome affect the cohesion acetylation cycle
    • Deardorff M., Bando M., Nakato R., Watrin E., Itoh T., Minamino M., et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesion acetylation cycle. Nature 2012, 489:313-317.
    • (2012) Nature , vol.489 , pp. 313-317
    • Deardorff, M.1    Bando, M.2    Nakato, R.3    Watrin, E.4    Itoh, T.5    Minamino, M.6
  • 42
    • 33847196427 scopus 로고    scopus 로고
    • Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
    • Deardorff M.A., Kaur M., Yaeger D., Rampuria A., Korolev S., Pie J., et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. American Journal of Human Genetics 2007, 80:485-494.
    • (2007) American Journal of Human Genetics , vol.80 , pp. 485-494
    • Deardorff, M.A.1    Kaur, M.2    Yaeger, D.3    Rampuria, A.4    Korolev, S.5    Pie, J.6
  • 48
    • 0036165453 scopus 로고    scopus 로고
    • Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder
    • Duker P.C., van Driel S., van de Bercken J. Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder. Journal of Intellectual Disability Research 2002, 46:35-40.
    • (2002) Journal of Intellectual Disability Research , vol.46 , pp. 35-40
    • Duker, P.C.1    van Driel, S.2    van de Bercken, J.3
  • 51
    • 0032457871 scopus 로고    scopus 로고
    • Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome
    • Dykens E.M., Smith A.C. Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. Journal of Intellectual Disability Research 1998, 42(6):481-489.
    • (1998) Journal of Intellectual Disability Research , vol.42 , Issue.6 , pp. 481-489
    • Dykens, E.M.1    Smith, A.C.2
  • 55
    • 0035114739 scopus 로고    scopus 로고
    • Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome
    • Finucane B.M., Dirrigl K.H., Simon E.W. Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. American Journal on Mental Retardation 2001, 106:52-58.
    • (2001) American Journal on Mental Retardation , vol.106 , pp. 52-58
    • Finucane, B.M.1    Dirrigl, K.H.2    Simon, E.W.3
  • 56
    • 85009580760 scopus 로고    scopus 로고
    • Smith-Magenis syndrome: genetic basis and clinical implications
    • Finucane B., Haas-Givler B. Smith-Magenis syndrome: genetic basis and clinical implications. Journal of Mental Health Research 2009, 2:134-148.
    • (2009) Journal of Mental Health Research , vol.2 , pp. 134-148
    • Finucane, B.1    Haas-Givler, B.2
  • 59
    • 4544253309 scopus 로고    scopus 로고
    • NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations
    • Gillis L.A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. American Journal of Human Genetics 2004, 75:610-623.
    • (2004) American Journal of Human Genetics , vol.75 , pp. 610-623
    • Gillis, L.A.1    McCallum, J.2    Kaur, M.3    DeScipio, C.4    Yaeger, D.5    Mariani, A.6
  • 60
    • 84870863653 scopus 로고    scopus 로고
    • Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes
    • Gimigliano A., Mannini L., Bianchi L., Puglia M., Deardorff M.A., Menga S., et al. Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes. Journal of Proteome Research 2012, 11:6111-6123.
    • (2012) Journal of Proteome Research , vol.11 , pp. 6111-6123
    • Gimigliano, A.1    Mannini, L.2    Bianchi, L.3    Puglia, M.4    Deardorff, M.A.5    Menga, S.6
  • 62
    • 0027429313 scopus 로고
    • Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome
    • Goodban M.T. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. American Journal of Medical Genetics 1993, 47:1059-1063.
    • (1993) American Journal of Medical Genetics , vol.47 , pp. 1059-1063
    • Goodban, M.T.1
  • 63
    • 33646005793 scopus 로고    scopus 로고
    • Repetitive and ritualistic behaviour in children with Prader-Willi syndrome and children with autism
    • Greaves N., Prince E., Evans D.W., Charman T. Repetitive and ritualistic behaviour in children with Prader-Willi syndrome and children with autism. Journal of Intellectual Disability Research 2006, 50:92-100.
    • (2006) Journal of Intellectual Disability Research , vol.50 , pp. 92-100
    • Greaves, N.1    Prince, E.2    Evans, D.W.3    Charman, T.4
  • 64
    • 0026347929 scopus 로고
    • Molecular analysis of the Smith-Magenis syndrome - a possible contiguous-gene syndrome associated with Del(17)(P11.2)
    • Greenberg F., Guzzetta V., De Oca-Luna R.M., Magenis R.E., Smith A.C.M., et al. Molecular analysis of the Smith-Magenis syndrome - a possible contiguous-gene syndrome associated with Del(17)(P11.2). American Journal of Human Genetics 1991, 49:1207-1218.
    • (1991) American Journal of Human Genetics , vol.49 , pp. 1207-1218
    • Greenberg, F.1    Guzzetta, V.2    De Oca-Luna, R.M.3    Magenis, R.E.4    Smith, A.C.M.5
  • 66
    • 79952615148 scopus 로고    scopus 로고
    • Psychological well-being in parents of children with Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndromes
    • Griffith G., Hastings R.P., Oliver C., Howling P., Moss J., Petty J., et al. Psychological well-being in parents of children with Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndromes. Journal of Intellectual Disability Research 2011, 55:397-410.
    • (2011) Journal of Intellectual Disability Research , vol.55 , pp. 397-410
    • Griffith, G.1    Hastings, R.P.2    Oliver, C.3    Howling, P.4    Moss, J.5    Petty, J.6
  • 67
    • 33646125422 scopus 로고    scopus 로고
    • Neurologic and developmental features of the Smith-Magenis syndrome (del 17p.11.2)
    • Gropman A.L., Duncan W.C., Smith A.C. Neurologic and developmental features of the Smith-Magenis syndrome (del 17p.11.2). Pediatric Neurology 2006, 34:337-350.
    • (2006) Pediatric Neurology , vol.34 , pp. 337-350
    • Gropman, A.L.1    Duncan, W.C.2    Smith, A.C.3
  • 70
    • 84878146693 scopus 로고
    • Observations on the behavioral and personality characteristics of children with Smith-Magenis syndrome
    • Haas-Givler B. Observations on the behavioral and personality characteristics of children with Smith-Magenis syndrome. Spectrum (Newsletter of PRISMS) 1994, 1(2):1.
    • (1994) Spectrum (Newsletter of PRISMS) , vol.1 , Issue.2 , pp. 1
    • Haas-Givler, B.1
  • 71
    • 0033373434 scopus 로고    scopus 로고
    • Psychopharmacological interventions in fragile X syndrome, fetal alcohol syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and velocadiofacial syndrome
    • Hagerman R.J. Psychopharmacological interventions in fragile X syndrome, fetal alcohol syndrome, Prader-Willi syndrome, Angelman syndrome, Smith-Magenis syndrome, and velocadiofacial syndrome. Mental Retardation and Developmental Disabilities Research Reviews 1999, 5:305-313.
    • (1999) Mental Retardation and Developmental Disabilities Research Reviews , vol.5 , pp. 305-313
    • Hagerman, R.J.1
  • 72
    • 0037738698 scopus 로고    scopus 로고
    • Prader-Willi syndrome and the evolution of human childhood
    • Haig D., Wharton R. Prader-Willi syndrome and the evolution of human childhood. American Journal of Human Biology 2003, 15:320-329.
    • (2003) American Journal of Human Biology , vol.15 , pp. 320-329
    • Haig, D.1    Wharton, R.2
  • 76
    • 84876053848 scopus 로고    scopus 로고
    • Discrimination training reduces high rate social approach behaviors in Angelman syndrome: Proof of principle
    • Heald M., Allen D., Villa D., Oliver C. Discrimination training reduces high rate social approach behaviors in Angelman syndrome: Proof of principle. Research in Developmental Disabilities 2013, 34:1794-1803.
    • (2013) Research in Developmental Disabilities , vol.34 , pp. 1794-1803
    • Heald, M.1    Allen, D.2    Villa, D.3    Oliver, C.4
  • 78
    • 0141429092 scopus 로고    scopus 로고
    • The paradox of Prader-Willi syndrome: a genetic model of starvation
    • Holland A., Whittington J., Hinton E. The paradox of Prader-Willi syndrome: a genetic model of starvation. Lancet 2003, 362:989-991.
    • (2003) Lancet , vol.362 , pp. 989-991
    • Holland, A.1    Whittington, J.2    Hinton, E.3
  • 79
    • 0037208057 scopus 로고    scopus 로고
    • Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome
    • Holland A.J., Whittington J.E., Webb B.T., Boer H., Clarke D. Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychological Medicine 2003, 33:141-153.
    • (2003) Psychological Medicine , vol.33 , pp. 141-153
    • Holland, A.J.1    Whittington, J.E.2    Webb, B.T.3    Boer, H.4    Clarke, D.5
  • 81
    • 33748988739 scopus 로고    scopus 로고
    • Environmental influences on the behavioral phenotype of Angelman syndrome
    • Horsler K., Oliver C. Environmental influences on the behavioral phenotype of Angelman syndrome. American Journal on Mental Retardation 2006, 111:311-321.
    • (2006) American Journal on Mental Retardation , vol.111 , pp. 311-321
    • Horsler, K.1    Oliver, C.2
  • 82
    • 18244408870 scopus 로고    scopus 로고
    • Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
    • Hyman P., Oliver C., Hall S. Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. American Journal on Mental Retardation 2002, 107:146-154.
    • (2002) American Journal on Mental Retardation , vol.107 , pp. 146-154
    • Hyman, P.1    Oliver, C.2    Hall, S.3
  • 86
    • 34249904394 scopus 로고    scopus 로고
    • Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance
    • Kline A.D., Krantz I.D., Sommer A., Kliewer M., et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. American Journal of Medical Genetics 2007, 143A:1287-1296.
    • (2007) American Journal of Medical Genetics , vol.143 A , pp. 1287-1296
    • Kline, A.D.1    Krantz, I.D.2    Sommer, A.3    Kliewer, M.4
  • 89
    • 0034001636 scopus 로고    scopus 로고
    • Review of adaptive behavior studies in mentally retarded persons with autism/pervasive developmental disorder
    • Kraijer D. Review of adaptive behavior studies in mentally retarded persons with autism/pervasive developmental disorder. Journal of Autism and Developmental Disorders 2000, 30:39-47.
    • (2000) Journal of Autism and Developmental Disorders , vol.30 , pp. 39-47
    • Kraijer, D.1
  • 92
    • 53049084787 scopus 로고    scopus 로고
    • Functional analysis of the early development of self-injurious behavior: Incorporating gene-environment interactions
    • Langthorne P., McGill P. Functional analysis of the early development of self-injurious behavior: Incorporating gene-environment interactions. American Journal on Mental Retardation 2008, 113:403-417.
    • (2008) American Journal on Mental Retardation , vol.113 , pp. 403-417
    • Langthorne, P.1    McGill, P.2
  • 93
    • 84858866848 scopus 로고    scopus 로고
    • An indirect examination of the function of problem behavior associated with Fragile X syndrome and Smith-Magenis syndrome
    • Langthorne P., McGill P. An indirect examination of the function of problem behavior associated with Fragile X syndrome and Smith-Magenis syndrome. Journal of Autism and Developmental Disorders 2012, 42(2):201-209.
    • (2012) Journal of Autism and Developmental Disorders , vol.42 , Issue.2 , pp. 201-209
    • Langthorne, P.1    McGill, P.2
  • 99
    • 79951679866 scopus 로고    scopus 로고
    • Development of the eating behavior in Prader-Willi syndrome: advances in our understanding
    • McAllister C.J., Whittington J.E., Holland A.J. Development of the eating behavior in Prader-Willi syndrome: advances in our understanding. International Journal of Obesity 2011, 35:188-197.
    • (2011) International Journal of Obesity , vol.35 , pp. 188-197
    • McAllister, C.J.1    Whittington, J.E.2    Holland, A.J.3
  • 100
    • 84860285551 scopus 로고    scopus 로고
    • The animal and human neuroendocrinology of social cognition, motivation and behavior
    • McCall C., Singer T. The animal and human neuroendocrinology of social cognition, motivation and behavior. Nature Neuroscience 2012, 15:681-688.
    • (2012) Nature Neuroscience , vol.15 , pp. 681-688
    • McCall, C.1    Singer, T.2
  • 104
    • 70350430194 scopus 로고    scopus 로고
    • Invited annotation - autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider ASD population
    • Moss J., Howlin P. Invited annotation - autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider ASD population. Journal of Intellectual Disability Research 2009, 53:852-872.
    • (2009) Journal of Intellectual Disability Research , vol.53 , pp. 852-872
    • Moss, J.1    Howlin, P.2
  • 105
    • 84863824293 scopus 로고    scopus 로고
    • The assessment and presentation of Autism Spectrum Disorder and associated characteristics in individuals with severe intellectual disability and genetic syndromes
    • Oxford University Press, New York, J.A. Burack, R.M. Hodapp, G. Iarocci, E. Zigler (Eds.)
    • Moss J., Howlin P., Oliver C. The assessment and presentation of Autism Spectrum Disorder and associated characteristics in individuals with severe intellectual disability and genetic syndromes. The Oxford Handbook of Intellectual Disability and Development 2011, 275-302. Oxford University Press, New York. J.A. Burack, R.M. Hodapp, G. Iarocci, E. Zigler (Eds.).
    • (2011) The Oxford Handbook of Intellectual Disability and Development , pp. 275-302
    • Moss, J.1    Howlin, P.2    Oliver, C.3
  • 115
    • 33645845720 scopus 로고    scopus 로고
    • Opthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study
    • Nallasamy S., Kherani F., Yaeger D., McCallum J., Kaur M., Devoto M., et al. Opthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Archives of Opthalmology 2006, 124:552-557.
    • (2006) Archives of Opthalmology , vol.124 , pp. 552-557
    • Nallasamy, S.1    Kherani, F.2    Yaeger, D.3    McCallum, J.4    Kaur, M.5    Devoto, M.6
  • 117
    • 0015278845 scopus 로고
    • Behavioral phenotypes in organic genetic disease: presidential address to the society for pediatric research, May 1, 1971
    • Nyhan W.L. Behavioral phenotypes in organic genetic disease: presidential address to the society for pediatric research, May 1, 1971. Pediatric Research 1972, 6:1-9.
    • (1972) Pediatric Research , vol.6 , pp. 1-9
    • Nyhan, W.L.1
  • 118
    • 33748627456 scopus 로고    scopus 로고
    • Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented
    • Oiglane-Shlik E., Talvik T., Zordania R., Põder H., Kahre T., Raukas E., et al. Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented. American Journal of Medical Genetics 2006, 140:1936-1943.
    • (2006) American Journal of Medical Genetics , vol.140 , pp. 1936-1943
    • Oiglane-Shlik, E.1    Talvik, T.2    Zordania, R.3    Põder, H.4    Kahre, T.5    Raukas, E.6
  • 120
    • 0029144539 scopus 로고
    • Annotation: self-injurious behavior in children with learning disabilities - recent advances in assessment and intervention
    • Oliver C. Annotation: self-injurious behavior in children with learning disabilities - recent advances in assessment and intervention. Journal of Child Psychology and Psychiatry and Allied Disciplines 1995, 36:909-927.
    • (1995) Journal of Child Psychology and Psychiatry and Allied Disciplines , vol.36 , pp. 909-927
    • Oliver, C.1
  • 121
    • 57449106631 scopus 로고    scopus 로고
    • The behavioral phenotype of Cornelia de Lange syndrome: a case control study
    • Oliver C., Arron K., Sloneem J., Hall S. The behavioral phenotype of Cornelia de Lange syndrome: a case control study. British Journal of Psychiatry 2008, 193:466-470.
    • (2008) British Journal of Psychiatry , vol.193 , pp. 466-470
    • Oliver, C.1    Arron, K.2    Sloneem, J.3    Hall, S.4
  • 122
    • 79961170673 scopus 로고    scopus 로고
    • Delineation of behavioral phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity
    • Oliver C., Berg K., Moss J., Arron K., Burbidge C. Delineation of behavioral phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity. Journal of Autism and Developmental Disorders 2011, 41:1019-1032.
    • (2011) Journal of Autism and Developmental Disorders , vol.41 , pp. 1019-1032
    • Oliver, C.1    Berg, K.2    Moss, J.3    Arron, K.4    Burbidge, C.5
  • 123
    • 18344365184 scopus 로고    scopus 로고
    • The effect of environmental events on smiling and laughing behavior in Angelman syndrome
    • Oliver C., Demetriades L., Hall S. The effect of environmental events on smiling and laughing behavior in Angelman syndrome. American Journal on Mental Retardation 2002, 107:194-200.
    • (2002) American Journal on Mental Retardation , vol.107 , pp. 194-200
    • Oliver, C.1    Demetriades, L.2    Hall, S.3
  • 124
    • 22244477410 scopus 로고    scopus 로고
    • The early development of self-injurious behaviour: evaluating the role of social reinforcement
    • Oliver C., Hall S., Murphy G. The early development of self-injurious behaviour: evaluating the role of social reinforcement. Journal of Intellectual Disability Research 2005, 49:591-599.
    • (2005) Journal of Intellectual Disability Research , vol.49 , pp. 591-599
    • Oliver, C.1    Hall, S.2    Murphy, G.3
  • 126
    • 84878119768 scopus 로고    scopus 로고
    • Self-injurious behavior in Cornelia de Lange and Cri du Chat syndromes: associations with peripheral sensory neuropathy and social interactions
    • Oliver C., Jephcott L., Seri S., Friess S., Kline A., Moss J. Self-injurious behavior in Cornelia de Lange and Cri du Chat syndromes: associations with peripheral sensory neuropathy and social interactions. American Journal of Medical Genetics 2007, 9999A:1-9.
    • (2007) American Journal of Medical Genetics , vol.9999 A , pp. 1-9
    • Oliver, C.1    Jephcott, L.2    Seri, S.3    Friess, S.4    Kline, A.5    Moss, J.6
  • 129
    • 0002941711 scopus 로고    scopus 로고
    • Components of executive function in autism and other disorders
    • Oxford University Press, Oxford, UK, J. Russell (Ed.)
    • Ozonoff S. Components of executive function in autism and other disorders. Autism as an executive disorder 1997, 179-211. Oxford University Press, Oxford, UK. J. Russell (Ed.).
    • (1997) Autism as an executive disorder , pp. 179-211
    • Ozonoff, S.1
  • 132
    • 47849125828 scopus 로고    scopus 로고
    • Behavior and neuropsychiatric manifestations in Angelman syndrome
    • Pelc K., Cheron G., Dan B. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatric Disease and Treatment 2008, 4:577-584.
    • (2008) Neuropsychiatric Disease and Treatment , vol.4 , pp. 577-584
    • Pelc, K.1    Cheron, G.2    Dan, B.3
  • 136
    • 23944462985 scopus 로고    scopus 로고
    • Self-injurious behavior in individuals with intellectual disabilities
    • Petty J., Oliver C. Self-injurious behavior in individuals with intellectual disabilities. Current Opinion in Psychiatry 2005, 18:467-468.
    • (2005) Current Opinion in Psychiatry , vol.18 , pp. 467-468
    • Petty, J.1    Oliver, C.2
  • 137
    • 0033987366 scopus 로고    scopus 로고
    • Molecular mechanism for duplication 17p.11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion
    • Potocki L., Chen K.S., Park S.S., Osterholm D.E., Withers M.A., Kimonis V., et al. Molecular mechanism for duplication 17p.11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nature Genetics 2000, 24:84-87.
    • (2000) Nature Genetics , vol.24 , pp. 84-87
    • Potocki, L.1    Chen, K.S.2    Park, S.S.3    Osterholm, D.E.4    Withers, M.A.5    Kimonis, V.6
  • 138
    • 84859729490 scopus 로고    scopus 로고
    • Functional analysis and functional communication training in individuals with Angelman syndrome
    • Radstaake M., Didden R., Oliver C., Allen D., Curfs L.M. Functional analysis and functional communication training in individuals with Angelman syndrome. Developmental Neurorehabilitation 2012, 15:91-104.
    • (2012) Developmental Neurorehabilitation , vol.15 , pp. 91-104
    • Radstaake, M.1    Didden, R.2    Oliver, C.3    Allen, D.4    Curfs, L.M.5
  • 144
    • 33745242295 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
    • Sahoo T., Peters S.U., Madduri N.S., Glaze D.G., German J.R., Bird L.M., et al. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. Journal of Medical Genetics 2006, 43:512-516.
    • (2006) Journal of Medical Genetics , vol.43 , pp. 512-516
    • Sahoo, T.1    Peters, S.U.2    Madduri, N.S.3    Glaze, D.G.4    German, J.R.5    Bird, L.M.6
  • 146
    • 84861223730 scopus 로고    scopus 로고
    • Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis
    • Sanchez-Ortiga R., Klibanski A., Tritos N.A. Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis. Clinical Endocrinology 2012, 77(1):86-93. 10.1111/j.1365-2265.2011.04303.x.
    • (2012) Clinical Endocrinology , vol.77 , Issue.1 , pp. 86-93
    • Sanchez-Ortiga, R.1    Klibanski, A.2    Tritos, N.A.3
  • 148
    • 0030847322 scopus 로고    scopus 로고
    • Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome
    • Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research 1997, 41:70-75.
    • (1997) Journal of Intellectual Disability Research , vol.41 , pp. 70-75
    • Sarimski, K.1
  • 149
    • 4844219649 scopus 로고    scopus 로고
    • Communicative competence and behavioral phenotype in children with Smith-Magenis syndrome
    • Sarimski K. Communicative competence and behavioral phenotype in children with Smith-Magenis syndrome. Genetic Counselling 2004, 15:347-355.
    • (2004) Genetic Counselling , vol.15 , pp. 347-355
    • Sarimski, K.1
  • 150
    • 0000959362 scopus 로고
    • Impulsivity and inhibitory control in normal development and childhood psychopathology
    • Schachar R.J., Logan G.D. Impulsivity and inhibitory control in normal development and childhood psychopathology. Developmental Psychology 1990, 26:710-720.
    • (1990) Developmental Psychology , vol.26 , pp. 710-720
    • Schachar, R.J.1    Logan, G.D.2
  • 156
    • 67449131478 scopus 로고    scopus 로고
    • Self-injurious behaviour in Cornelia de Lange syndrome 2: association with environmental events
    • Sloneem J., Arron K., Hall S.S., Oliver C. Self-injurious behaviour in Cornelia de Lange syndrome 2: association with environmental events. Journal of Intellectual Disability Research 2009, 53:590-603.
    • (2009) Journal of Intellectual Disability Research , vol.53 , pp. 590-603
    • Sloneem, J.1    Arron, K.2    Hall, S.S.3    Oliver, C.4
  • 157
    • 78751497661 scopus 로고    scopus 로고
    • Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome
    • Sloneem J., Oliver C., Udwin O., Woodcock K.A. Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. Journal of Intellectual Disability Research 2011, 55:138-151.
    • (2011) Journal of Intellectual Disability Research , vol.55 , pp. 138-151
    • Sloneem, J.1    Oliver, C.2    Udwin, O.3    Woodcock, K.A.4
  • 158
    • 0034945669 scopus 로고    scopus 로고
    • Angelman syndrome: evolution of the phenotype in adolescents and adults
    • Smith J.C. Angelman syndrome: evolution of the phenotype in adolescents and adults. Developmental Medicine and Child Neurology 2001, 43:476-480.
    • (2001) Developmental Medicine and Child Neurology , vol.43 , pp. 476-480
    • Smith, J.C.1
  • 161
  • 163
    • 33845294444 scopus 로고    scopus 로고
    • The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment
    • Soni S., Whittington J., Holland A.J., Webb T., Maina E., Boer H., et al. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. Journal of Intellectual Disability Research 2006, 51:32-42.
    • (2006) Journal of Intellectual Disability Research , vol.51 , pp. 32-42
    • Soni, S.1    Whittington, J.2    Holland, A.J.3    Webb, T.4    Maina, E.5    Boer, H.6
  • 164
    • 0037051167 scopus 로고    scopus 로고
    • Psychological heterogeneity in AD/HD: a dual pathways model of motivation and cognition
    • Sonuga-Barke E.J.S. Psychological heterogeneity in AD/HD: a dual pathways model of motivation and cognition. Behavioral Brain Research 2002, 130:29-36.
    • (2002) Behavioral Brain Research , vol.130 , pp. 29-36
    • Sonuga-Barke, E.J.S.1
  • 167
    • 0037135296 scopus 로고    scopus 로고
    • Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome
    • Stauder J.E.A., Brinkman M.J.R., Curfs L.M.G. Multi-modal P3 deflation of event-related brain activity in Prader-Willi syndrome. Neuroscience Letters 2002, 327:99-102. 10.1016/s0304-3940(02)00377-4.
    • (2002) Neuroscience Letters , vol.327 , pp. 99-102
    • Stauder, J.E.A.1    Brinkman, M.J.R.2    Curfs, L.M.G.3
  • 170
    • 0033158816 scopus 로고    scopus 로고
    • Distinctive pattern of behavioral functioning in Angelman syndrome
    • Summers J.A., Feldman M.A. Distinctive pattern of behavioral functioning in Angelman syndrome. American Journal on Mental Retardation 1999, 104:376-384.
    • (1999) American Journal on Mental Retardation , vol.104 , pp. 376-384
    • Summers, J.A.1    Feldman, M.A.2
  • 171
    • 0028852641 scopus 로고
    • Alterations in the hypothalamic paraventricular nucleus and its Oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases
    • Swaab D.F., Purba J.S., Hofman M.A. Alterations in the hypothalamic paraventricular nucleus and its Oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. Journal of Clinical Endocrinology and Metabolism 1995, 80:573-579.
    • (1995) Journal of Clinical Endocrinology and Metabolism , vol.80 , pp. 573-579
    • Swaab, D.F.1    Purba, J.S.2    Hofman, M.A.3
  • 173
    • 79959455590 scopus 로고    scopus 로고
    • Oxytocin may be useful to increase trust in others and decrease disruptive behaviors in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients
    • Tauber M., Mantoulan C., Copet P., Jauregui J., Demeer G., Rogé B., et al. Oxytocin may be useful to increase trust in others and decrease disruptive behaviors in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients. Orphanet Journal of Rare Diseases 2012, 6:47.
    • (2012) Orphanet Journal of Rare Diseases , vol.6 , pp. 47
    • Tauber, M.1    Mantoulan, C.2    Copet, P.3    Jauregui, J.4    Demeer, G.5    Rogé, B.6
  • 174
    • 54049083858 scopus 로고    scopus 로고
    • The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction
    • Taylor L., Oliver C. The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction. Journal of Intellectual Disability Research 2008, 52:830-841.
    • (2008) Journal of Intellectual Disability Research , vol.52 , pp. 830-841
    • Taylor, L.1    Oliver, C.2
  • 175
    • 2642565901 scopus 로고    scopus 로고
    • NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
    • Tonkin E.T., Wang T., Lisgo S., Bambshad M.J., Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nature Genetics 2004, 6:636-641.
    • (2004) Nature Genetics , vol.6 , pp. 636-641
    • Tonkin, E.T.1    Wang, T.2    Lisgo, S.3    Bambshad, M.J.4    Strachan, T.5
  • 176
    • 3042635551 scopus 로고    scopus 로고
    • Autism in Angelman syndrome: an exploration of comorbidity
    • Trillingsgaard A., Ostergaard J.R. Autism in Angelman syndrome: an exploration of comorbidity. Autism 2004, 8:163-174.
    • (2004) Autism , vol.8 , pp. 163-174
    • Trillingsgaard, A.1    Ostergaard, J.R.2
  • 177
    • 79851515076 scopus 로고    scopus 로고
    • Phenotype-environment interactions in genetic syndromes associated with severe or profound intellectual disability
    • Tunnicliffe P., Oliver C. Phenotype-environment interactions in genetic syndromes associated with severe or profound intellectual disability. Research in Developmental Disabilities 2011, 32:404-418.
    • (2011) Research in Developmental Disabilities , vol.32 , pp. 404-418
    • Tunnicliffe, P.1    Oliver, C.2
  • 179
    • 0003119505 scopus 로고    scopus 로고
    • Towards an executive dysfunction account of repetitive behaviour in autism
    • Oxford University Press, Oxford, UK, J. Russell (Ed.)
    • Turner M. Towards an executive dysfunction account of repetitive behaviour in autism. Autism as an executive disorder 1997, 57-100. Oxford University Press, Oxford, UK. J. Russell (Ed.).
    • (1997) Autism as an executive disorder , pp. 57-100
    • Turner, M.1
  • 182
    • 33847210262 scopus 로고    scopus 로고
    • Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alpha CaMKII inhibitory phosphorylation
    • van Woerden G.M., Harris K.D., Hojiati M.R., Gustin R.M., Qiu S., et al. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alpha CaMKII inhibitory phosphorylation. Nature Neuroscience 2007, 10:280-282.
    • (2007) Nature Neuroscience , vol.10 , pp. 280-282
    • van Woerden, G.M.1    Harris, K.D.2    Hojiati, M.R.3    Gustin, R.M.4    Qiu, S.5
  • 183
    • 10044281472 scopus 로고    scopus 로고
    • Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
    • Varela M.C., Kok F., Otto P.A., Koiffmann C.P. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. European Journal of Human Genetics 2004, 12:987-992.
    • (2004) European Journal of Human Genetics , vol.12 , pp. 987-992
    • Varela, M.C.1    Kok, F.2    Otto, P.A.3    Koiffmann, C.P.4
  • 184
    • 33645733702 scopus 로고    scopus 로고
    • Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review
    • Veltman M.W., Craig E.E., Bolton P.F. Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatric Genetics 2005, 15:243-254.
    • (2005) Psychiatric Genetics , vol.15 , pp. 243-254
    • Veltman, M.W.1    Craig, E.E.2    Bolton, P.F.3
  • 185
    • 0029263108 scopus 로고
    • Noncontingent escape as treatment for self-injurious behavior maintained by negative reinforcement
    • Vollmer T.R., Marcus B.A., Ringdahl J.E. Noncontingent escape as treatment for self-injurious behavior maintained by negative reinforcement. Journal of Applied Behavior Analysis 1995, 28:15-26.
    • (1995) Journal of Applied Behavior Analysis , vol.28 , pp. 15-26
    • Vollmer, T.R.1    Marcus, B.A.2    Ringdahl, J.E.3
  • 186
    • 34249030970 scopus 로고    scopus 로고
    • Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome
    • Walz N.C. Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. Journal of Autism and Developmental Disorders 2006, 37:940-947.
    • (2006) Journal of Autism and Developmental Disorders , vol.37 , pp. 940-947
    • Walz, N.C.1
  • 188
    • 0036388057 scopus 로고    scopus 로고
    • Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome and Angelman syndrome
    • Walz N.C., Benson B.A. Behavioral phenotypes in children with Down syndrome, Prader-Willi syndrome and Angelman syndrome. Journal of Developmental and Physical Disabilities 2002, 14:307-321.
    • (2002) Journal of Developmental and Physical Disabilities , vol.14 , pp. 307-321
    • Walz, N.C.1    Benson, B.A.2
  • 190
    • 78650225262 scopus 로고    scopus 로고
    • Recognition of emotion in facial expression by people with Prader-Willi syndrome
    • Whittington J., Holland T. Recognition of emotion in facial expression by people with Prader-Willi syndrome. Journal of Intellectual Disability Research 2011, 55:75-84.
    • (2011) Journal of Intellectual Disability Research , vol.55 , pp. 75-84
    • Whittington, J.1    Holland, T.2
  • 192
    • 0034758284 scopus 로고    scopus 로고
    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region
    • Whittington J.E., Holland A.J., Webb T., Butler J., Clarke D., Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. Journal of Medical Genetics 2001, 38:792-798.
    • (2001) Journal of Medical Genetics , vol.38 , pp. 792-798
    • Whittington, J.E.1    Holland, A.J.2    Webb, T.3    Butler, J.4    Clarke, D.5    Boer, H.6
  • 194
    • 0042763763 scopus 로고    scopus 로고
    • Rituals and compulsivity in Prader-Willi syndrome: profile and stability
    • Wigren M., Hansen S. Rituals and compulsivity in Prader-Willi syndrome: profile and stability. Journal of Intellectual Disability Research 2003, 47:428-438.
    • (2003) Journal of Intellectual Disability Research , vol.47 , pp. 428-438
    • Wigren, M.1    Hansen, S.2
  • 198
    • 67650064623 scopus 로고    scopus 로고
    • Dorsal and ventral stream mediated visual processing in genetic subtypes of Prader-Willi syndrome
    • Woodcock K.A., Humphreys G.W., Oliver C. Dorsal and ventral stream mediated visual processing in genetic subtypes of Prader-Willi syndrome. Neuropsychologia 2009, 47:2367-2373.
    • (2009) Neuropsychologia , vol.47 , pp. 2367-2373
    • Woodcock, K.A.1    Humphreys, G.W.2    Oliver, C.3
  • 199
    • 78149464409 scopus 로고    scopus 로고
    • Neural correlates of task switching in paternal 15q11-q13 deletion Prader-Willi syndrome
    • Woodcock K.A., Humphreys G.W., Oliver C., Hansen P.C. Neural correlates of task switching in paternal 15q11-q13 deletion Prader-Willi syndrome. Brain Research 2010, 1363:128-142.
    • (2010) Brain Research , vol.1363 , pp. 128-142
    • Woodcock, K.A.1    Humphreys, G.W.2    Oliver, C.3    Hansen, P.C.4
  • 200
    • 60749098505 scopus 로고    scopus 로고
    • Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader-Willi and Fragile-X syndromes
    • Woodcock K., Oliver C., Humphreys G. Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader-Willi and Fragile-X syndromes. Journal of Intellectual Disability Research 2009, 53:265-278.
    • (2009) Journal of Intellectual Disability Research , vol.53 , pp. 265-278
    • Woodcock, K.1    Oliver, C.2    Humphreys, G.3
  • 201
    • 65949111828 scopus 로고    scopus 로고
    • Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome
    • Woodcock K.A., Oliver C., Humphreys G.W. Task-switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile X syndrome. Cognitive Neuropsychology 2009, 26:172-194.
    • (2009) Cognitive Neuropsychology , vol.26 , pp. 172-194
    • Woodcock, K.A.1    Oliver, C.2    Humphreys, G.W.3
  • 202
    • 65949087885 scopus 로고    scopus 로고
    • A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms
    • Woodcock K.A., Oliver C., Humphreys G.W. A specific pathway can be identified between genetic characteristics and behaviour profiles in Prader-Willi syndrome via cognitive, environmental and physiological mechanisms. Journal of Intellectual Disability Research 2009, 53:493-500.
    • (2009) Journal of Intellectual Disability Research , vol.53 , pp. 493-500
    • Woodcock, K.A.1    Oliver, C.2    Humphreys, G.W.3
  • 203
    • 78751543912 scopus 로고    scopus 로고
    • The relationship between specific cognitive impairment and behaviour in Prader-Willi syndrome
    • Woodcock K.A., Oliver C., Humphreys G.W. The relationship between specific cognitive impairment and behaviour in Prader-Willi syndrome. Journal of Intellectual Disability Research 2011, 55:152-171.
    • (2011) Journal of Intellectual Disability Research , vol.55 , pp. 152-171
    • Woodcock, K.A.1    Oliver, C.2    Humphreys, G.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.