{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T15:45:35Z","timestamp":1793202335124,"version":"4.5.0"},"reference-count":28,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:p>Os autores descrevem um caso t\u00edpico de s\u00edndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, defici\u00eancia mental, macrostomia, dentes espa\u00e7ados, convuls\u00f5es, aus\u00eancia de fala, andar com a base alargada e inst\u00e1vel, crises de risos. Os estudos citogen\u00e9ticos e moleculares revelaram dele\u00e7\u00e3o do segmento 15q11ql3 de origem materna, confirmando o diagn\u00f3stico cl\u00ednico de s\u00edndrome de Angelman.<\/jats:p>","DOI":"10.1590\/s0004-282x1997000200025","type":"journal-article","created":{"date-parts":[[2010,10,28]],"date-time":"2010-10-28T02:09:03Z","timestamp":1288231743000},"page":"329-333","source":"Crossref","is-referenced-by-count":2,"title":["S\u00edndrome de Angelman: causa frequentemente n\u00e3o reconhecida de defici\u00eancia mental e epilepsia. relato de caso"],"prefix":"10.1590","volume":"55","author":[{"given":"Cintia","family":"Fridman","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aron","family":"Diament","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9lia P.","family":"Koiffmann","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1111\/j.1469-8749.1965.tb07844.x","article-title":"\"Puppet\" children: a report on three cases","volume":"7","author":"Angelman H","year":"1965","journal-title":"Develop Med Child Neurol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ajmg.1320510109","article-title":"Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?","volume":"51","author":"Bottani A","year":"1994","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1007\/BF00441976","article-title":"The EEG in early diagnosis of the Angelman (happy puppet) syndrome","volume":"147","author":"Boyd SG","year":"1988","journal-title":"Eur J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/ng0495-395","article-title":"Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15","volume":"9","author":"Buiting K","year":"1995","journal-title":"Nature Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1136\/jmg.30.11.895","article-title":"Molecular mechanisms in Angelman syndrome: a survey of 93 patients","volume":"30","author":"Chan C-TJ","year":"1993","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1136\/adc.67.7.889","article-title":"Angelman's syndrome","volume":"67","author":"Clayton-Smith J","year":"1992","journal-title":"Arch Dis Childh"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1136\/jmg.29.6.412","article-title":"Angelman syndrome","volume":"29","author":"Clayton-Smith J","year":"1992","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/ajmg.1320450522","article-title":"Paternal uniparental disomy in a child with a balanced 15,15 translocation and Angelman syndrome","volume":"45","author":"Freeman SB","year":"1993","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref9","series-title":"Estudo gen\u00e9tico-cl\u00ednico de s\u00edndromes associadas \u00e0 regi\u00e3o 15q11-13","author":"Fridman C","year":"1995"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.1320380114","article-title":"Diagnosis of Angelman syndrome in infants","volume":"38","author":"Fryburg JS","year":"1991","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ajmg.1320560324","article-title":"Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype","volume":"56","author":"Gillessen-Kaesbach G","year":"1995","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref12","first-page":"16","article-title":"Chromosome 15 uniparental disomy is not frequent in Angelman syndrome","volume":"48","author":"Knoll JHM","year":"1991","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/ajmg.1320320235","article-title":"Angelman and Prader-Willi syndromes shares a common chromosome 15 deletion but differ in parental origin of the deletion","volume":"32","author":"Knoll JHM","year":"1989","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1002\/ajmg.1320280407","article-title":"Is Angelman syndrome an alternative result of del (15)(q11q13)?","volume":"28","author":"Magenis RE","year":"1987","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/ajmg.1320350307","article-title":"Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences","volume":"35","author":"Magenis RE","year":"1990","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/0140-6736(91)90278-W","article-title":"Uniparental paternal disomy in Angelman's syndrome","volume":"337","author":"Malcolm S","year":"1991","journal-title":"Lancet","ISSN":"https:\/\/id.crossref.org\/issn\/0099-5355","issn-type":"print"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ajmg.1320460106","article-title":"Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review","volume":"46","author":"Nicholls RD","year":"1993","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref18","first-page":"733","article-title":"New insights reveal complex mechanisms involved in genomic imprinting","volume":"54","author":"Nicholls RD","year":"1994","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/ana.410320406","article-title":"Paternal uniparental disomy of chromosome 15 in a child with Angclman syndrome","volume":"32","author":"Nicholls RD","year":"1992","journal-title":"Ann Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0364-5134","issn-type":"print"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1136\/jmg.26.2.73","article-title":"The association of Angelman's syndrome with deletions within 15q11-13","volume":"26","author":"Pembrey M","year":"1989","journal-title":"J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref21","first-page":"54:741","article-title":"Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes","author":"Reis A","year":"1994","journal-title":"Am J Hum Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1136\/adc.64.1.83","article-title":"The 'happy puppet' syndrome of Angelman: review of the clinical features","volume":"64","author":"Robb SA","year":"1989","journal-title":"Arch Dis Childh"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"7811","DOI":"10.1073\/pnas.93.15.7811","article-title":"Minimal definition of the imprinting center and fixation of a chromosome 15q1l-ql3 epigenotype by imprinting mutations","volume":"93","author":"Saitoh S","year":"1996","journal-title":"Proc Natl Acad Sci USA","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1056\/NEJM199203193261206","article-title":"Prader-Willi syndrome and Angelman syndrome in cousins from a family with translocation between chromosomes 6 and 15","volume":"326","author":"Smects DFCM","year":"1992","journal-title":"N Engl JMed"},{"key":"ref25","first-page":"1","article-title":"Inheritance of parental chromosomes 15 in Angelman syndrome: implications for the family","volume":"4","author":"Webb T","year":"1993","journal-title":"Genetic Counseling","ISSN":"https:\/\/id.crossref.org\/issn\/1015-8146","issn-type":"print"},{"key":"ref26","first-page":"56:237","article-title":"Angelman syndrome: consensus for diagnostic criteria","author":"Williams CA","year":"1995","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1002\/ajmg.1320270405","article-title":"Recurrence risk in Angelman (\"happy puppet\") syndrome","volume":"27","author":"Willems PJ","year":"1987","journal-title":"Am J Med Genet","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref28","first-page":"7:270","article-title":"Angelman syndrome: clinical profile","author":"Zori RT","year":"1992","journal-title":"J Child Neurol","ISSN":"https:\/\/id.crossref.org\/issn\/0883-0738","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v55n2\/25.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T17:44:05Z","timestamp":1495820645000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X1997000200025&lng=pt&tlng=pt"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["S0004-282X1997000200025"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x1997000200025","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}