Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
about
Gene structure, DNA methylation, and imprinted expression of the human SNRPN geneA mouse model for Prader-Willi syndrome imprinting-centre mutationsUniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.Nondisjunction of chromosome 15: origin and recombinationEpilepsy in Korean patients with Angelman syndromeThe behavioural phenotype of Angelman syndrome.Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.[Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report]
P2860
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P2860
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@en
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@nl
type
label
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@en
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@nl
prefLabel
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@en
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome.
@en
P2093
P2860
P304
P356
10.1002/ANA.410320406
P577
1992-10-01T00:00:00Z