메뉴 건너뛰기




Volumn 154, Issue 4, 2010, Pages 432-437

The behavioral phenotype of the Angelman syndrome

Author keywords

Angelman syndrome; Behavioral phenotype; Laughter; UBE3A gene

Indexed keywords

ARTICLE; ATAXIA; BALANCE DISORDER; BEHAVIOR DISORDER; CHROMOSOME 15Q; CHROMOSOME DELETION; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; HAPPY PUPPET SYNDROME; HUMAN; HYPERACTIVITY; LANGUAGE DISABILITY; MOTOR DYSFUNCTION; PATHOLOGICAL LAUGHTER; PHENOTYPE; PRIORITY JOURNAL; SOCIAL BEHAVIOR; SPEECH DISORDER;

EID: 78049395022     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30278     Document Type: Article
Times cited : (78)

References (46)
  • 1
    • 84995191751 scopus 로고
    • 'Puppet' children. A report of three cases
    • Angelman H. 1965. 'Puppet' children. A report of three cases. Dev Med Child Neurol 7:681-688.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 2
    • 78049407320 scopus 로고
    • Personal communication (letter) to Dr. Charles Williams.
    • Angelman H. 1991. Personal communication (letter) to Dr. Charles Williams.
    • (1991)
    • Angelman, H.1
  • 8
    • 0033651946 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Sister imprinted disorders
    • Cassidy SB, Dykens E, Williams CA. 2000. Prader-Willi and Angelman syndromes: Sister imprinted disorders. Am J Med Genet 97:136-146.
    • (2000) Am J Med Genet , vol.97 , pp. 136-146
    • Cassidy, S.B.1    Dykens, E.2    Williams, C.A.3
  • 9
    • 0034086554 scopus 로고    scopus 로고
    • Problem behaviors associated with 15q- Angelman syndrome
    • Clarke DJ, Marston G. 2000. Problem behaviors associated with 15q- Angelman syndrome. Am J Ment Retard 105:25-31.
    • (2000) Am J Ment Retard , vol.105 , pp. 25-31
    • Clarke, D.J.1    Marston, G.2
  • 10
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
    • Clayton-Smith J. 1993. Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. Am J Med Genet 46:12-15.
    • (1993) Am J Med Genet , vol.46 , pp. 12-15
    • Clayton-Smith, J.1
  • 11
    • 0034945669 scopus 로고    scopus 로고
    • Angelman syndrome: Evolution of the phenotype in adolescents and adults
    • Clayton-Smith J. 2001. Angelman syndrome: Evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 43:467-480.
    • (2001) Dev Med Child Neurol , vol.43 , pp. 467-480
    • Clayton-Smith, J.1
  • 13
    • 70350373401 scopus 로고    scopus 로고
    • Epilepsy and the sleep-wake patterns found in Angelman syndrome
    • Conant KD, Thibert RL, Thiele EA. 2009. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia 50:2497-2500.
    • (2009) Epilepsia , vol.50 , pp. 2497-2500
    • Conant, K.D.1    Thibert, R.L.2    Thiele, E.A.3
  • 15
    • 39749168055 scopus 로고    scopus 로고
    • Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability
    • Didden R, Korzilius H, Sturmey P, Lancioni GE, Curfs LM. 2008. Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. J Intellect Dev Disabil 33:59-64.
    • (2008) J Intellect Dev Disabil , vol.33 , pp. 59-64
    • Didden, R.1    Korzilius, H.2    Sturmey, P.3    Lancioni, G.E.4    Curfs, L.M.5
  • 16
    • 0028933829 scopus 로고
    • Measuring behavioral phenotypes: Provocations from the "new genetics
    • Dykens EM. 1995. Measuring behavioral phenotypes: Provocations from the "new genetics". Am J Ment Retard 99:522-532.
    • (1995) Am J Ment Retard , vol.99 , pp. 522-532
    • Dykens, E.M.1
  • 17
    • 0016563416 scopus 로고
    • Fourteen happy puppets
    • Elian M. 1975. Fourteen happy puppets. Clin Pediatr (Phila) 14:902-908.
    • (1975) Clin Pediatr (Phila) , vol.14 , pp. 902-908
    • Elian, M.1
  • 21
    • 33645929715 scopus 로고    scopus 로고
    • The behavioural phenotype of Angelman syndrome
    • Horsler K, Oliver C. 2006a. The behavioural phenotype of Angelman syndrome. J Intellect Disabil Res 50:33-53.
    • (2006) J Intellect Disabil Res , vol.50 , pp. 33-53
    • Horsler, K.1    Oliver, C.2
  • 22
    • 33748988739 scopus 로고    scopus 로고
    • Environmental influences on the behavioral phenotype of Angelman syndrome
    • Horsler K, Oliver C. 2006b. Environmental influences on the behavioral phenotype of Angelman syndrome. Am J Ment Retard 111:311-321.
    • (2006) Am J Ment Retard , vol.111 , pp. 311-321
    • Horsler, K.1    Oliver, C.2
  • 26
    • 70350430194 scopus 로고    scopus 로고
    • 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
  • 27
    • 18344365184 scopus 로고    scopus 로고
    • Effects of environmental events on smiling and laughing behavior in Angelman syndrome
    • Oliver C, Demetriades L, Hall S. 2002. Effects of environmental events on smiling and laughing behavior in Angelman syndrome. Am J Ment Retard 107:194-200.
    • (2002) Am J Ment Retard , vol.107 , pp. 194-200
    • Oliver, C.1    Demetriades, L.2    Hall, S.3
  • 28
    • 78049379472 scopus 로고
    • Editorial communication (letter) to Dr. Charles Williams.
    • Opitz JM. 1981. Editorial communication (letter) to Dr. Charles Williams.
    • (1981)
    • Opitz, J.M.1
  • 29
    • 43449093723 scopus 로고    scopus 로고
    • Are there distinctive sleep problems in Angelman syndrome
    • Pelc K, Cheron G, Boyd SG, Dan B. 2008a. Are there distinctive sleep problems in Angelman syndrome? Sleep Med 9:434-441.
    • (2008) Sleep Med , vol.9 , pp. 434-441
    • Pelc, K.1    Cheron, G.2    Boyd, S.G.3    Dan, B.4
  • 30
    • 47849125828 scopus 로고    scopus 로고
    • Behavior and neuropsychiatric manifestations in Angelman syndrome
    • Pelc K, Cheron G, Dan B. 2008b. Behavior and neuropsychiatric manifestations in Angelman syndrome. Neuropsychiatr Dis Treat 4:577-584.
    • (2008) Neuropsychiatr Dis Treat , vol.4 , pp. 577-584
    • Pelc, K.1    Cheron, G.2    Dan, B.3
  • 31
    • 78049396088 scopus 로고    scopus 로고
    • The relationship between molecular subtype and autism symptom severity in Angelman syndrome. Presented at the International Meeting for Autism Research.
    • Peters SU, Bird LM, Barbier-Welge R, Tan WH, Hundley R, Skinner S, Bauer-Carlin A, Sahoo T, Bacino CA. 2008. The relationship between molecular subtype and autism symptom severity in Angelman syndrome. Presented at the International Meeting for Autism Research.
    • (2008)
    • Peters, S.U.1    Bird, L.M.2    Barbier-Welge, R.3    Tan, W.H.4    Hundley, R.5    Skinner, S.6    Bauer-Carlin, A.7    Sahoo, T.8    Bacino, C.A.9
  • 32
    • 77950386683 scopus 로고    scopus 로고
    • Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a
    • Sato M, Stryker MP. 2010. Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci USA 107:5611-5616.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 5611-5616
    • Sato, M.1    Stryker, M.P.2
  • 34
    • 64649104892 scopus 로고    scopus 로고
    • Experimental functional analysis of aggression in children with Angelman syndrome
    • Strachan R, Shaw R, Burrow C, Horsler K, Allen D, Oliver C. 2009. Experimental functional analysis of aggression in children with Angelman syndrome. Res Dev Disabil 30:1095-1106.
    • (2009) Res Dev Disabil , vol.30 , pp. 1095-1106
    • Strachan, R.1    Shaw, R.2    Burrow, C.3    Horsler, K.4    Allen, D.5    Oliver, C.6
  • 36
    • 0033158816 scopus 로고    scopus 로고
    • Distinctive pattern of behavioral functioning in Angelman syndrome
    • Summers JA, Feldman MA. 1999. Distinctive pattern of behavioral functioning in Angelman syndrome. Am J Ment Retard 104:376-384.
    • (1999) Am J Ment Retard , vol.104 , pp. 376-384
    • Summers, J.A.1    Feldman, M.A.2
  • 38
    • 77649126321 scopus 로고    scopus 로고
    • Angelman syndrome: Finding the lost arc
    • Tai HC, Schuman EM. 2010. Angelman syndrome: Finding the lost arc. Cell 140:608-610.
    • (2010) Cell , vol.140 , pp. 608-610
    • Tai, H.C.1    Schuman, E.M.2
  • 39
    • 3042635551 scopus 로고    scopus 로고
    • Autism in Angelman syndrome: An exploration of comorbidity
    • Trillingsgaard A, Ostergaard JR. 2004. Autism in Angelman syndrome: An exploration of comorbidity. Autism 8:163-174.
    • (2004) Autism , vol.8 , pp. 163-174
    • Trillingsgaard, A.1    Ostergaard, J.R.2
  • 41
    • 21344441232 scopus 로고    scopus 로고
    • Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems
    • Walz NC, Beebe D, Byars K. 2005. Sleep in individuals with Angelman syndrome: Parent perceptions of patterns and problems. Am J Ment Retard 110:243-252.
    • (2005) Am J Ment Retard , vol.110 , pp. 243-252
    • Walz, N.C.1    Beebe, D.2    Byars, K.3
  • 44
    • 0020085439 scopus 로고
    • The Angelman ("happy puppet") syndrome
    • Williams CA, Frias JL. 1982. The Angelman ("happy puppet") syndrome. Am J Med Genet 11:453-460.
    • (1982) Am J Med Genet , vol.11 , pp. 453-460
    • Williams, C.A.1    Frias, J.L.2
  • 46
    • 0032936080 scopus 로고    scopus 로고
    • Effects of a low dose of melatonin on sleep in children with Angelman syndrome
    • Zhdanova IV, Wurtman RJ, Wagstaff J. 1999. Effects of a low dose of melatonin on sleep in children with Angelman syndrome. J Pediatr Endocrinol Metab 12:57-67.
    • (1999) J Pediatr Endocrinol Metab , vol.12 , pp. 57-67
    • Zhdanova, I.V.1    Wurtman, R.J.2    Wagstaff, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.