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Prader-Willi and Angelman syndromes: sister imprinted disorders
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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
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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
American Journal of Medical Genetics Part A
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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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retrieved
21 January 2018
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
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21 January 2018
‘Puppet’ Children A Report on Three Cases
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21 January 2018
Competition--a common motif for the imprinting mechanism?
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21 January 2018
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?
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21 January 2018
The EEG in early diagnosis of the Angelman (happy puppet) syndrome.
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21 January 2018
Angelman syndrome: are the estimates too low?
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21 January 2018
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
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21 January 2018
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.
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21 January 2018
Clinical profile of Angelman syndrome at different ages
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21 January 2018
Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions
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21 January 2018
Prader-Willi syndrome: current understanding of cause and diagnosis
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21 January 2018
Prader-Willi syndrome
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21 January 2018
Prader-Willi syndrome and psychoses
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21 January 2018
Prader-Willi syndrome and psychotic symptoms: 2. A preliminary study of prevalence using the Psychopathology Assessment Schedule for Adults with Developmental Disability checklist.
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21 January 2018
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals
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21 January 2018
Angelman syndrome
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21 January 2018
Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
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21 January 2018
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
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21 January 2018
Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome.
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21 January 2018
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
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21 January 2018
Profiles, correlates, and trajectories of intelligence in Prader-Willi syndrome
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21 January 2018
Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation
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21 January 2018
Obsessions and compulsions in Prader-Willi syndrome.
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21 January 2018
The spectrum of mutations in UBE3A causing Angelman syndrome
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21 January 2018
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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21 January 2018
A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes
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21 January 2018
Disruption of the mouse necdin gene results in early post-natal lethality
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21 January 2018
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
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21 January 2018
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes
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21 January 2018
An imprinted, mammalian bicistronic transcript encodes two independent proteins
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21 January 2018
Ubiquitin C-terminal hydrolase is an immediate-early gene essential for long-term facilitation in Aplysia
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21 January 2018
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q
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21 January 2018
Genetics of Angelman syndrome
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21 January 2018
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.
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21 January 2018
Neuronal Controls of a Behavioral Response Mediated by the Abdominal Ganglion of Aplysia
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21 January 2018
Angelman syndrome in adulthood
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21 January 2018
Towards a molecular understanding of Prader-Willi and Angelman syndromes
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21 January 2018
Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.
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21 January 2018
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
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21 January 2018
Angelman syndrome: correlations between epilepsy phenotypes and genotypes
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21 January 2018
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
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21 January 2018
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review
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21 January 2018
Imprinting-mutation mechanisms in Prader-Willi syndrome
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21 January 2018
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
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21 January 2018
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
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21 January 2018
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
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21 January 2018
Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
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21 January 2018
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
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21 January 2018
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.
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21 January 2018
The third factor of the WISC-III: it's (probably) not freedom from distractibility
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21 January 2018
Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities
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21 January 2018
Behaviour problems in Angelman syndrome
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21 January 2018
Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations
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21 January 2018
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
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21 January 2018
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
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21 January 2018
Emotional symptoms in Prader-Willi syndrome adolescents.
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21 January 2018
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation
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21 January 2018
Angelman syndrome
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21 January 2018
A mouse model for Prader-Willi syndrome imprinting-centre mutations
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21 January 2018
Angelman syndrome: clinical profile
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retrieved
21 January 2018
Identifiers
DOI
10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
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PubMed publication ID
11180221
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