메뉴 건너뛰기




Volumn 7, Issue 3, 1992, Pages 270-280

Angelman Syndrome: Clinical Profile

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BEHAVIOR DISORDER; CHILD BEHAVIOR; CHROMOSOME 15; CHROMOSOME ABERRATION; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FEEDING DISORDER; HAPPY PUPPET SYNDROME; HUMAN; INFANT; NEWBORN; QUESTIONNAIRE; SEIZURE; SYMPTOMATOLOGY; SYNDROME DELINEATION;

EID: 0026651961     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/088307389200700307     Document Type: Article
Times cited : (93)

References (58)
  • 1
    • 84995191751 scopus 로고
    • Puppet” children: A report on three cases
    • Angelman H.: “Puppet” children: A report on three cases. Dev Med Child Neurol 1965; 7: 681–688.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 2
    • 0023617404 scopus 로고
    • Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
    • Kaplan LC, Wharton R., Elias E., et al: Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance. Am J Med Genet 1987; 28: 45–53.
    • (1987) Am J Med Genet , vol.28 , pp. 45-53
    • Kaplan, L.C.1    Wharton, R.2    Elias, E.3
  • 3
    • 0023522069 scopus 로고
    • Is Angelman syndrome an alternative result of del(15)(q11-q13)?
    • Magenis RE, Brown MG, Lacy DA, et al: Is Angelman syndrome an alternative result of del(15)(q11-q13)? Am J Med Genet 1987; 28: 829–838.
    • (1987) Am J Med Genet , vol.28 , pp. 829-838
    • Magenis, R.E.1    Brown, M.G.2    Lacy, D.A.3
  • 4
    • 0024533842 scopus 로고
    • The “happy puppet” syndrome of Angelman: Review of the clinical features
    • Robb SA, Pohl KRE, Baraitser M., et al: The “happy puppet” syndrome of Angelman: Review of the clinical features. Arch Dis Child 1989; 64: 83–86.
    • (1989) Arch Dis Child , vol.64 , pp. 83-86
    • Robb, S.A.1    Pohl, K.R.E.2    Baraitser, M.3
  • 5
    • 0023237581 scopus 로고
    • The Angelman (happy puppet) syndrome: Is it autosomal recessive?
    • Baraitser M., Patton M., Lam STS, et al: The Angelman (happy puppet) syndrome: Is it autosomal recessive? Clin Genet 1987;31: 323–330.
    • (1987) Clin Genet , vol.31 , pp. 323-330
    • Baraitser, M.1    Patton, M.2    Lam, S.T.S.3
  • 6
    • 0017298230 scopus 로고
    • Een zeldzaam (?) “vrolijk” oligofreen syndrome
    • Batenburg-Plenter AM: Een zeldzaam (?) “vrolijk” oligofreen syndrome. Ned Tijdschr Geneeskd 1976; 120: 1528–1530.
    • (1976) Ned Tijdschr Geneeskd , vol.120 , pp. 1528-1530
    • Batenburg-Plenter, A.M.1
  • 7
    • 0015257593 scopus 로고
    • Angelman's (“happy puppet”) syndrome
    • Berg JM, Pakula Z.: Angelman's (“happy puppet”) syndrome. Am J Dis Child 1972; 123: 72–74.
    • (1972) Am J Dis Child , vol.123 , pp. 72-74
    • Berg, J.M.1    Pakula, Z.2
  • 8
    • 0015528507 scopus 로고
    • “Happy puppet” syndrome
    • Berggreen S.: “Happy puppet” syndrome. Ugeskr Laeger 1972; 134: 1174.
    • (1972) Ugeskr Laeger , vol.134 , pp. 1174
    • Berggreen, S.1
  • 9
    • 0021329691 scopus 로고
    • The Angelman or “happy puppet” syndrome. Clinical and electroencephalographic features and cerebral blood flow
    • Bjerre I., Fagher B., Ryding E., Rosen I.: The Angelman or “happy puppet” syndrome. Clinical and electroencephalographic features and cerebral blood flow. Acta Paediatr Scand 1984; 73: 398–402.
    • (1984) Acta Paediatr Scand , vol.73 , pp. 398-402
    • Bjerre, I.1    Fagher, B.2    Ryding, E.3    Rosen, I.4
  • 10
    • 0014094405 scopus 로고
    • The “happy puppet” syndrome
    • Bower BD, Jeavons PM: The “happy puppet” syndrome. Arch Dis Child 1967; 42: 298–302.
    • (1967) Arch Dis Child , vol.42 , pp. 298-302
    • Bower, B.D.1    Jeavons, P.M.2
  • 11
    • 0017008118 scopus 로고
    • Sindrome de Angelman o de la marioneta alegre
    • Comas AP: Sindrome de Angelman o de la marioneta alegre. Bol Asoc Med P R 1976; 68: 257–260.
    • (1976) Bol Asoc Med P R , vol.68 , pp. 257-260
    • Comas, A.P.1
  • 14
    • 0024230893 scopus 로고
    • Angelman (“happy puppet”) syndrome—seven new cases documented by cerebral computed tomography: Review of the literature
    • Dorries A., Spohr H-L., Kunze J.: Angelman (“happy puppet”) syndrome—seven new cases documented by cerebral computed tomography: Review of the literature. Eur J Pediatr 1988; 148: 270–273.
    • (1988) Eur J Pediatr , vol.148 , pp. 270-273
    • Dorries, A.1    Spohr, H-L.2    Kunze, J.3
  • 16
    • 0016563416 scopus 로고
    • Fourteen happy puppets
    • Elian M.: Fourteen happy puppets. Clin Pediatr 1975; 14: 902–908.
    • (1975) Clin Pediatr , vol.14 , pp. 902-908
    • Elian, M.1
  • 18
    • 0024583813 scopus 로고
    • Angelman's (happy puppet) syndrome: Clinical, CT scan and serial electroencephalographic study
    • Ganji S., Duncan MC: Angelman's (happy puppet) syndrome: Clinical, CT scan and serial electroencephalographic study. Clin Electroencephalogr 1989; 20: 128–140.
    • (1989) Clin Electroencephalogr , vol.20 , pp. 128-140
    • Ganji, S.1    Duncan, M.C.2
  • 19
    • 0017318821 scopus 로고
    • Happy puppet syndrome
    • Godfrey M.: Happy puppet syndrome. Nurs Mirror 1976; 143: 45–46.
    • (1976) Nurs Mirror , vol.143 , pp. 45-46
    • Godfrey, M.1
  • 20
    • 0016982539 scopus 로고
    • Le syndrome de la “marionnette joyeuse
    • Halal F., Chagnon J.: Le syndrome de la “marionnette joyeuse.” Union Med Can 1976; 105: 1077–1083.
    • (1976) Union Med Can , vol.105 , pp. 1077-1083
    • Halal, F.1    Chagnon, J.2
  • 21
    • 0019786425 scopus 로고
    • Behavioral correlates in the happy puppet syndrome: A characteristic profile ?
    • Hersh JH, Bloom AS, Zimmerman AW, et al: Behavioral correlates in the happy puppet syndrome: A characteristic profile ? Dev Med Child Neurol 1981; 23: 792–800.
    • (1981) Dev Med Child Neurol , vol.23 , pp. 792-800
    • Hersh, J.H.1    Bloom, A.S.2    Zimmerman, A.W.3
  • 22
    • 0015828059 scopus 로고
    • The “happy puppet” syndrome
    • Kibel MA, Burness FR: The “happy puppet” syndrome. Centr Afr J Med 1973; 19: 91–93.
    • (1973) Centr Afr J Med , vol.19 , pp. 91-93
    • Kibel, M.A.1    Burness, F.R.2
  • 23
    • 0019145736 scopus 로고
    • The “happy puppet” syndrome in two siblings
    • Kuroki Y., Matsui I., Yamamoto Y., leshima A.: The “happy puppet” syndrome in two siblings. Hum Genet 1980; 56: 227–229.
    • (1980) Hum Genet , vol.56 , pp. 227-229
    • Kuroki, Y.1    Matsui, I.2    Yamamoto, Y.3    leshima, A.4
  • 24
    • 0025173833 scopus 로고
    • Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin and clinical consequences
    • Magenis RE, Toth-Fegel S., Allen LJ, et al: Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin and clinical consequences. Am J Med Genet 1990; 35: 333–349.
    • (1990) Am J Med Genet , vol.35 , pp. 333-349
    • Magenis, R.E.1    Toth-Fegel, S.2    Allen, L.J.3
  • 25
    • 0015762644 scopus 로고
    • Ocular manifestations of the happy puppet syndrome
    • Massey JY, Roy FH: Ocular manifestations of the happy puppet syndrome. J Pediatr Ophthalmol 1973; 10: 282–284.
    • (1973) J Pediatr Ophthalmol , vol.10 , pp. 282-284
    • Massey, J.Y.1    Roy, F.H.2
  • 27
    • 0015609961 scopus 로고
    • The “happy puppet” syndrome: Two new cases and a review of five previous cases
    • Moore JR, Jeavons PM: The “happy puppet” syndrome: Two new cases and a review of five previous cases. Neuropäediatrie 1973; 4: 172–179.
    • (1973) Neuropäediatrie , vol.4 , pp. 172-179
    • Moore, J.R.1    Jeavons, P.M.2
  • 28
    • 0022710064 scopus 로고
    • Garciá-Simón R: Sindrome (happy puppet) o de Angelman. Revisión a propósito de tres casos
    • Pascual Pascual SI, Campos Tullot R., Escudero B., Garciá-Simón R: Sindrome (happy puppet) o de Angelman. Revisión a propósito de tres casos. An Esp Pediatr 1986; 24: 311–316.
    • (1986) An Esp Pediatr , vol.24 , pp. 311-316
    • Pascual Pascual, S.I.1    Campos Tullot, R.2    Escudero, B.3
  • 30
    • 0017156978 scopus 로고
    • Happy puppet” syndrome ou syndrome du “pantin hilare
    • Pelc S., Levy J., Point G.: “Happy puppet” syndrome ou syndrome du “pantin hilare.” Helv Paediatr Acta 1976; 31: 183–188.
    • (1976) Helv Paediatr Acta , vol.31 , pp. 183-188
    • Pelc, S.1    Levy, J.2    Point, G.3
  • 32
    • 0023630509 scopus 로고
    • Dijkstra 1, Brouwer O, Smit P: Recurrence risk in the Angelman (“happy puppet”) syndrome
    • Willems P., Dijkstra 1, Brouwer O, Smit P: Recurrence risk in the Angelman (“happy puppet”) syndrome. Am J Med Genet 1987; 27: 773- 780.
    • (1987) Am J Med Genet , vol.27 , pp. 773
    • Willems, P.1
  • 33
    • 0020085439 scopus 로고
    • The Angelman (“happy puppet”) syndrome
    • Williams C, Frias JL: The Angelman (“happy puppet”) syndrome. Am J Med Genet 1982; 11: 543–560.
    • (1982) Am J Med Genet , vol.11 , pp. 543-560
    • Williams, C.1    Frias, J.L.2
  • 34
    • 0024373339 scopus 로고
    • Angelman syndrome in a daughter with del(15)(q11-q13) associated with brachycephaly, hearing loss, enlarged foramen magnum and ataxia in the mother
    • Williams CA, Hendrickson JE, Cantu ES, Donlon TA: Angelman syndrome in a daughter with del(15)(q11-q13) associated with brachycephaly, hearing loss, enlarged foramen magnum and ataxia in the mother. Am J Med Genet 1989; 32: 333–338.
    • (1989) Am J Med Genet , vol.32 , pp. 333-338
    • Williams, C.A.1    Hendrickson, J.E.2    Cantu, E.S.3    Donlon, T.A.4
  • 35
    • 0023925498 scopus 로고
    • The electroencephalogram in early diagnosis of the Angelman (happy puppet) syndrome
    • Boyd SG, Harden A., Patton MA: The electroencephalogram in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988; 147: 508–513.
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 36
    • 0025847439 scopus 로고
    • Puppet-like syndrome of Angelman: A pathologic and neurochemical study
    • Jay V., Becker LE, Chan FW, Perry TL: Puppet-like syndrome of Angelman: A pathologic and neurochemical study. Neurology 1991; 41: 416–422.
    • (1991) Neurology , vol.41 , pp. 416-422
    • Jay, V.1    Becker, L.E.2    Chan, F.W.3    Perry, T.L.4
  • 38
    • 0019966525 scopus 로고
    • Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome
    • Hittner HM, King RA, Riccardi VM, et al: Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am J Ophthalmol 1982; 94: 328–337.
    • (1982) Am J Ophthalmol , vol.94 , pp. 328-337
    • Hittner, H.M.1    King, R.A.2    Riccardi, V.M.3
  • 40
    • 0016169528 scopus 로고
    • The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment
    • Bolande RP: The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 1974; 5: 409–429.
    • (1974) Hum Pathol , vol.5 , pp. 409-429
    • Bolande, R.P.1
  • 41
    • 0021748237 scopus 로고
    • Role of neural crest in anterior segment development and disease
    • Beauchamp GR, Knepper PA: Role of neural crest in anterior segment development and disease. J Pediatr Ophthalmol Strabismus 1984; 21: 209–214.
    • (1984) J Pediatr Ophthalmol Strabismus , vol.21 , pp. 209-214
    • Beauchamp, G.R.1    Knepper, P.A.2
  • 42
    • 0019749883 scopus 로고
    • Neurofibromatosis—the quintessential neurocristopathy: Pathogenetic concepts and relationships
    • Bolande RP: Neurofibromatosis—the quintessential neurocristopathy: Pathogenetic concepts and relationships. Adv Neurol 1981;29: 67–75.
    • (1981) Adv Neurol , vol.29 , pp. 67-75
    • Bolande, R.P.1
  • 43
    • 0022462350 scopus 로고
    • Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    • Butler MG, Meaney FJ, Palmer CG: Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1986; 23: 793–809.
    • (1986) Am J Med Genet , vol.23 , pp. 793-809
    • Butler, M.G.1    Meaney, F.J.2    Palmer, C.G.3
  • 44
    • 0020067829 scopus 로고
    • Chromosome 15 abnormalities and the Prader-Willi syndrome
    • Ledbetter DH, Mascarello JT, Riccardi VM, et al: Chromosome 15 abnormalities and the Prader-Willi syndrome. Am J Hum Genet 1982;34: 278–285.
    • (1982) Am J Hum Genet , vol.34 , pp. 278-285
    • Ledbetter, D.H.1    Mascarello, J.T.2    Riccardi, V.M.3
  • 45
    • 0019377986 scopus 로고
    • Deletion of chromosome 15 as a cause of the Prader-Willi syndrome
    • Ledbetter DH, Riccardi VM, Youngbloom SA, et al: Deletion of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981; 304: 325–329.
    • (1981) N Engl J Med , vol.304 , pp. 325-329
    • Ledbetter, D.H.1    Riccardi, V.M.2    Youngbloom, S.A.3
  • 46
    • 0025049410 scopus 로고
    • Prenatal origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes
    • Zori R., Williams C., Mattel JF, Moncla A.: Prenatal origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes. Am J Med Genet 1990; 37: 294–295.
    • (1990) Am J Med Genet , vol.37 , pp. 294-295
    • Zori, R.1    Williams, C.2    Mattel, J.F.3    Moncla, A.4
  • 47
    • 0024371764 scopus 로고
    • Hypopigmentation: A common feature of Prader-Labhart-Willi syndrome
    • Butler MG: Hypopigmentation: A common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet 1989; 45: 140–146.
    • (1989) Am J Hum Genet , vol.45 , pp. 140-146
    • Butler, M.G.1
  • 48
    • 0023278194 scopus 로고
    • Hypopigmentation in the Prader-Willi syndrome
    • Wiesner GL, Bendel CM, Olds DP, et al: Hypopigmentation in the Prader-Willi syndrome. Am J Hum Genet 1987; 40: 431–442.
    • (1987) Am J Hum Genet , vol.40 , pp. 431-442
    • Wiesner, G.L.1    Bendel, C.M.2    Olds, D.P.3
  • 49
    • 0025292716 scopus 로고
    • Angelman syndrome: Three molecular classes identified with chromsome 15q11q13 specific DNA markers
    • Knoll JHM, Nicholls, RD, Magenis RE, et al: Angelman syndrome: Three molecular classes identified with chromsome 15q11q13 specific DNA markers. Am J Hum Genet 1990; 47: 149–154.
    • (1990) Am J Hum Genet , vol.47 , pp. 149-154
    • Knoll, J.H.M.1    RD, N.2    Magenis, R.E.3
  • 50
    • 0024397019 scopus 로고
    • Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Glatt K., et al: Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 1989; 33: 66–77.
    • (1989) Am J Med Genet , vol.33 , pp. 66-77
    • Nicholls, R.D.1    Knoll, J.H.2    Glatt, K.3
  • 51
    • 84965476992 scopus 로고
    • Possible genomic imprinting at the Angelman syndrome gene locus, abstract
    • Presented at the Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders Conference Noordwijkerhout
    • Niikawa N., Hamabe J.: Possible genomic imprinting at the Angelman syndrome gene locus, abstract. Presented at the Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders Conference, Noordwijkerhout, The Netherlands, May 1991.
    • (1991)
    • Niikawa, N.1    Hamabe, J.2
  • 52
    • 0021094659 scopus 로고
    • Parental origin of chromosome 15 deletion in Prader-Willi syndrome
    • Butler MG, Palmer CG: Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1983; 1: 1285–1286.
    • (1983) Lancet , vol.1 , pp. 1285-1286
    • Butler, M.G.1    Palmer, C.G.2
  • 53
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JHM, Nicholls RD, Magenis RE, et al: Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989; 32: 285–290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3
  • 54
    • 0025052050 scopus 로고
    • Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting
    • Williams CA, Zori RT, Stone JW, et al: Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 1990; 35: 350–353.
    • (1990) Am J Med Genet , vol.35 , pp. 350-353
    • Williams, C.A.1    Zori, R.T.2    Stone, J.W.3
  • 55
    • 0026080417 scopus 로고
    • Uniparental paternal disomy in Angelman's syndrome
    • Malcolm S., Clayton-Smith J., Nichols M., et al: Uniparental paternal disomy in Angelman's syndrome. Lancet 1991; 337: 694–697.
    • (1991) Lancet , vol.337 , pp. 694-697
    • Malcolm, S.1    Clayton-Smith, J.2    Nichols, M.3
  • 56
    • 0024440608 scopus 로고
    • Genomic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • Nicholls RD, Knoll JHM, Butler MG, et al: Genomic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281–285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3
  • 57
    • 84965444166 scopus 로고
    • Molecular analysis in Angelman syndrome, abstract
    • Presented at the Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders Conference, Noordwijkerhout, The Netherlands, May
    • Nicholls RD, Gotlieb W., Zori R., et al: Molecular analysis in Angelman syndrome, abstract. Presented at the Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders Conference, Noordwijkerhout, The Netherlands, May 1991.
    • (1991)
    • Nicholls, R.D.1    Gotlieb, W.2    Zori, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.