Prader-Willi and Angelman syndromes: sister imprinted disorders (Q28200133)

American Journal of Medical Genetics Part A

Europe PubMed Central

title

Prader-Willi and Angelman syndromes: sister imprinted disorders (English)

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author name string

S B Cassidy

series ordinal

1

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E Dykens

series ordinal

2

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C A Williams

series ordinal

3

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language of work or name

English

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publication date

2000

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published in

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volume

97

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issue

2

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page(s)

136-46

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cites work

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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Competition- a common motif for the imprinting mechanism?

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Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

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Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

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Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome

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Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

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Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome

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The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes

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An imprinted, mammalian bicistronic transcript encodes two independent proteins

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Neuronal Controls of a Behavioral Response Mediated by the Abdominal Ganglion of Aplysia

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The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain

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Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities

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Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain

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