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Volumn 16, Issue 1, 1997, Pages 17-22

Angelman syndrome assessed by neurological and molecular cytogenetic investigations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME G BAND; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DNA METHYLATION; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HUMAN; KARYOTYPE; MALE; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL;

EID: 0031046903     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(96)00264-0     Document Type: Article
Times cited : (18)

References (23)
  • 1
    • 84995191751 scopus 로고
    • Puppet children: A report of three cases
    • [1] Angelman H. Puppet children: A report of three cases. Dev Med Child Neurol 1965;7:681-8.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 2
    • 0024394434 scopus 로고
    • Incidence of 15q deletion in the Angelman syndrome: A survey of twelve affected persons
    • [2] Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantu ES. Incidence of 15q deletion in the Angelman syndrome: A survey of twelve affected persons. Am J Med Genet 1989;32:339-45.
    • (1989) Am J Med Genet , vol.32 , pp. 339-345
    • Williams, C.A.1    Gray, B.A.2    Hendrickson, J.E.3    Stone, J.W.4    Cantu, E.S.5
  • 4
    • 0028964548 scopus 로고
    • Clinical profile of Angelman syndrome at different ages
    • [4] Buntinx IM, Hennekam RCM, Brouwer OF, et al. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 1995;56: 176-83.
    • (1995) Am J Med Genet , vol.56 , pp. 176-183
    • Buntinx, I.M.1    Hennekam, R.C.M.2    Brouwer, O.F.3
  • 5
    • 0026921276 scopus 로고
    • Identification of sex chromosomal abnormalities by fluorescence in situ hybridization
    • [5] Hou JW, Lee ML, Wang TR. Identification of sex chromosomal abnormalities by fluorescence in situ hybridization. Acta Paediatr Sin 1992;33:332-40.
    • (1992) Acta Paediatr Sin , vol.33 , pp. 332-340
    • Hou, J.W.1    Lee, M.L.2    Wang, T.R.3
  • 6
    • 0026920425 scopus 로고
    • Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis
    • [6] Kuwano A, Mirangura A, Dittrick B, et al. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet 1992;1:417-25.
    • (1992) Hum Mol Genet , vol.1 , pp. 417-425
    • Kuwano, A.1    Mirangura, A.2    Dittrick, B.3
  • 7
    • 0011435662 scopus 로고
    • Identification of marker chromosomes by fluorescence in situ hybridization and nonfluorescence enzymatic precipitation
    • [7] Hou JW, Wang TR. Identification of marker chromosomes by fluorescence in situ hybridization and nonfluorescence enzymatic precipitation. J Genet Mol Biol 1993;4:7-13.
    • (1993) J Genet Mol Biol , vol.4 , pp. 7-13
    • Hou, J.W.1    Wang, T.R.2
  • 8
    • 0027741188 scopus 로고
    • Characterization of a methylation imprint in the Prader Willi syndrome chromosome region
    • [8] Dittrich B, Buiting K, Gross S, Horsthemke B. Characterization of a methylation imprint in the Prader Willi syndrome chromosome region. Hum Mol Genet 1993;2:1995-9.
    • (1993) Hum Mol Genet , vol.2 , pp. 1995-1999
    • Dittrich, B.1    Buiting, K.2    Gross, S.3    Horsthemke, B.4
  • 9
    • 0028217465 scopus 로고
    • Precocious puberty in a case with probable Angelman syndrome
    • [9] Young C, Wang PJ, Tsai WY, Shen YZ. Precocious puberty in a case with probable Angelman syndrome. Brain Dev 1994;16:249-52,
    • (1994) Brain Dev , vol.16 , pp. 249-252
    • Young, C.1    Wang, P.J.2    Tsai, W.Y.3    Shen, Y.Z.4
  • 10
    • 0343591718 scopus 로고
    • On the prevalence of Angelman syndrome
    • [10] Kyllerman M. On the prevalence of Angelman syndrome. Am J Med Genet 1995;59:405.
    • (1995) Am J Med Genet , vol.59 , pp. 405
    • Kyllerman, M.1
  • 11
    • 0030159846 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Clinical and molecular cytogenetic investigations
    • [11] Hou JW, Wang TR. Prader-Willi syndrome: Clinical and molecular cytogenetic investigations, J Formos Med Assoc 1996;95:474-9.
    • (1996) J Formos Med Assoc , vol.95 , pp. 474-479
    • Hou, J.W.1    Wang, T.R.2
  • 12
    • 0027476507 scopus 로고
    • Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview
    • [12] Knoll JHM, Wagstaff J, Lalande M. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview. Am J Med Genet 1993;46:2-6.
    • (1993) Am J Med Genet , vol.46 , pp. 2-6
    • Knoll, J.H.M.1    Wagstaff, J.2    Lalande, M.3
  • 13
    • 0028289468 scopus 로고
    • Maternal imprinting of human SNrPN, a gene deleted in Prader-Willi syndrome
    • [13] Reed ML, Leff SE. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet 1994;6:163-7.
    • (1994) Nature Genet , vol.6 , pp. 163-167
    • Reed, M.L.1    Leff, S.E.2
  • 14
    • 0026687861 scopus 로고
    • The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
    • [14] Ramsay M, Colman MA, Stevens G, et al. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992;51:879-84.
    • (1992) Am J Hum Genet , vol.51 , pp. 879-884
    • Ramsay, M.1    Colman, M.A.2    Stevens, G.3
  • 15
    • 0027339103 scopus 로고
    • Exclusion of GABAA-receptor b3 subunit gene as the Angelman syndrome gene
    • [15] Reis A, Kunze J, Ladanyi L. Exclusion of GABAA-receptor b3 subunit gene as the Angelman syndrome gene. Lancet 1993;341:122-3.
    • (1993) Lancet , vol.341 , pp. 122-123
    • Reis, A.1    Kunze, J.2    Ladanyi, L.3
  • 17
    • 0026893703 scopus 로고
    • Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression
    • [17] Wagstaff J. Knoll JHM, Glatt K, Shugart YY, Sommer A, Lalande M. Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression. Nature Genet 1992;1:291-4.
    • (1992) Nature Genet , vol.1 , pp. 291-294
    • Wagstaff, J.1    Knoll, J.H.M.2    Glatt, K.3    Shugart, Y.Y.4    Sommer, A.5    Lalande, M.6
  • 18
    • 0028219414 scopus 로고
    • Angelman syndrome due to parental uniparental disomy of chromosome 15: A milder phenotype
    • [18] Bottani A, Robinson WP, DeLozier-Blanchet CD, et al. Angelman syndrome due to parental uniparental disomy of chromosome 15: A milder phenotype. Am J Med Genet 1994;51:35-40.
    • (1994) Am J Med Genet , vol.51 , pp. 35-40
    • Bottani, A.1    Robinson, W.P.2    DeLozier-Blanchet, C.D.3
  • 19
    • 0026595355 scopus 로고
    • Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
    • [19] Dittrich B, Robinson WP, Knoblauch H, Buiting K, Gillessen-Kaesbach G, Horsthemke B. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 1992;90:313-5.
    • (1992) Hum Genet , vol.90 , pp. 313-315
    • Dittrich, B.1    Robinson, W.P.2    Knoblauch, H.3    Buiting, K.4    Gillessen-Kaesbach, G.5    Horsthemke, B.6
  • 21
    • 0023925498 scopus 로고
    • The EEG in early diagnosis of the Angelman (happy puppet) syndrome
    • [21] Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988;147:508-13.
    • (1988) Eur J Pediatr , vol.147 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 22
    • 0027474136 scopus 로고
    • Clinical research on Angelman syndrome in the United Kingdom: Observation on 82 affected individuals
    • [22] Clayton-Smith J. Clinical research on Angelman syndrome in the United Kingdom: Observation on 82 affected individuals. Am J Med Genet 1993;46:12-5.
    • (1993) Am J Med Genet , vol.46 , pp. 12-15
    • Clayton-Smith, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.