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PMID: 1519953 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Angelman's syndrome.

Archives of disease in childhood ·Vol. 67 ·No. 7 ·1992-07-00 ·Pages 889-90

Clayton-Smith J

Abstract

暂无摘要

MeSH Terms
Ataxia/diagnosis,genetics Child Child Behavior Chromosome Deletion Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 15 Facial Expression Humans Mental Disorders/diagnosis,genetics Movement Disorders/diagnosis,genetics Phenotype Syndrome
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Clayton-Smith J
Department of Medical Genetics, St Mary's Hospital, Manchester.
References (18)
18 references, click to expand
  1. 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 Sep;28(1):45-53 PMID: 3674117
  2. The EEG in early diagnosis of the Angelman (happy puppet) syndrome.
    Eur J Pediatr. 1988 Jun;147(5):508-13 PMID: 3409926
  3. The "happy puppet" syndrome in two siblings.
    Hum Genet. 1980;56(2):227-9 PMID: 7450780
  4. Genomic imprinting in an Angelman and Prader-Willi translocation family.
    Lancet. 1991 Sep 7;338(8767):638-9 PMID: 1679180
  5. DNA deletion and its parental origin in Angelman syndrome patients.
    Am J Med Genet. 1991 Oct 1;41(1):64-8 PMID: 1683160
  6. Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.
    Am J Hum Genet. 1990 Jul;47(1):149-54 PMID: 1971993
  7. Ocular findings in Angelman's (happy puppet) syndrome.
    Ophthalmic Paediatr Genet. 1990 Mar;11(1):1-6 PMID: 2348977
  8. The 'happy puppet' syndrome of Angelman: review of the clinical features.
    Arch Dis Child. 1989 Jan;64(1):83-6 PMID: 2466440
  9. The association of Angelman's syndrome with deletions within 15q11-13.
    J Med Genet. 1989 Feb;26(2):73-7 PMID: 2918545
  10. Angelman (happy puppet) syndrome in a girl and her brother.
    J Med Genet. 1987 May;24(5):294-8 PMID: 3585943
  11. The Angelman (Happy Puppet) syndrome: is it autosomal recessive?
    Clin Genet. 1987 May;31(5):323-30 PMID: 3608219
  12. Is Angelman syndrome an alternate result of del(15)(q11q13)?
    Am J Med Genet. 1987 Dec;28(4):829-38 PMID: 3688021
  13. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
    N Engl J Med. 1981 Feb 5;304(6):325-9 PMID: 7442771
  14. Uniparental paternal disomy in Angelman's syndrome.
    Lancet. 1991 Mar 23;337(8743):694-7 PMID: 1672177
  15. Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
    Am J Hum Genet. 1991 Aug;49(2):330-7 PMID: 1714232
  16. Prader-Willi syndrome: current understanding of cause and diagnosis.
    Am J Med Genet. 1990 Mar;35(3):319-32 PMID: 2309779
  17. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
    Am J Med Genet. 1989 Feb;32(2):285-90 PMID: 2564739
  18. The "happy puppet" syndrome.
    Arch Dis Child. 1967 Jun;42(223):298-302 PMID: 6025370
Article Info
Journal
Archives of disease in childhood
Abbr.
Arch Dis Child
ISSN
1468-2044
DOI
10.1136/adc.67.7.889
Published
1992-07-00
Pages
889-90
Language
English
Region
England
NLM ID
0372434
PMCID
PMC1793843
Subset
IM
External Links
PubMed source DOI: 10.1136/adc.67.7.889 PMC Full Text View journal details
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