Angelman Syndrome
Mostrando 1-12 de 52 artigos, teses e dissertações.
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1. Linguagem, neurodesenvolvimento e comportamento na Síndrome de Angelman: relato de caso
RESUMO Objetivo O objetivo deste estudo é apresentar achados de linguagem, comportamento e neurodesenvolvimento de uma menina com diagnóstico da Síndrome de Angelman, avaliada aos três e aos oito anos. Método Os instrumentos de avaliação foram Observação do Comportamento Comunicativo, Early Language Milestone Scale (ELM) e Teste de Screening de De
CoDAS. Publicado em: 22/08/2019
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2. A patogênese genética e molecular da síndrome de Angelman
Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência familiar. Método: Foi feita uma revisão bibliográfica utilizando a base de dados do PubMed, tendo como
Jornal Brasileiro de Psiquiatria. Publicado em: 2011
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3. Phenotypic and behavioral variability within Angelman Syndrome group with UPD
The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58
Genetics and Molecular Biology. Publicado em: 2002
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4. The elusive Angelman syndrome critical region.
DNA mapping studies in two families provide further information on the Angelman syndrome critical region, which has recently been defined by the gene UBE3A. The first family has probable familial Angelman syndrome with a maternally imprinted inheritance pattern. A 5 year old girl with this disorder has a 14 year old brother and an 11 year old male cousin who
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5. Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.
We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a familial case of Angelman syndrome in which the two affected children have mutations which affect the imprinting mechanism, as shown by the presence of paternal
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6. Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
A family is described in which an inversion of chromosome 15, 15 inv(p11q13), is segregating. All family members are healthy except the proband who is a 10 year old boy with Angelman syndrome. Although the chromosomal inversion has been passed from the grandfather to both his son and his daughter with no ill effect, passage from daughter to grandson has resu
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7. The association of Angelman's syndrome with deletions within 15q11-13.
The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patie
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8. Angelman's syndrome.
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9. Molecular screening for proximal 15q abnormalities in a mentally retarded population.
Paternal or maternal deletions in the 15q11.2-q13 region are known to result in Prader-Willi syndrome (PWS) or Angelman syndrome (AS), respectively. Maternal duplications in 15q11.2-q13 have been found in patients with autism. A population of adults with moderate to profound mental retardation was studied to examine the usefulness of PCR based molecular meth
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10. Angelman syndrome.
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11. Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along chromosome 15. Paternal uniparental isodisomy was found for all informative markers in the first case which i
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12. Imprinting and Angelman's syndrome