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)

0 references

author name string

S B Cassidy

series ordinal

1

0 references

E Dykens

series ordinal

2

0 references

C A Williams

series ordinal

3

0 references

language of work or name

English

0 references

publication date

2000

0 references

published in

0 references

volume

97

0 references

issue

2

0 references

page(s)

136-46

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

‘Puppet’ Children A Report on Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Competition--a common motif for the imprinting mechanism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Angelman syndrome: are the estimates too low?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Clinical profile of Angelman syndrome at different ages

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Prader-Willi syndrome: current understanding of cause and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

21 January 2018

Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Prader-Willi syndrome and psychoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Prader-Willi syndrome and psychotic symptoms: 2. A preliminary study of prevalence using the Psychopathology Assessment Schedule for Adults with Developmental Disability checklist.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Maladaptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Obsessions and compulsions in Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

The spectrum of mutations in UBE3A causing Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Disruption of the mouse necdin gene results in early post-natal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

An imprinted, mammalian bicistronic transcript encodes two independent proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Ubiquitin C-terminal hydrolase is an immediate-early gene essential for long-term facilitation in Aplysia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Genetics of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Angelman syndrome in adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Towards a molecular understanding of Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Imprinting-mutation mechanisms in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

The third factor of the WISC-III: it's (probably) not freedom from distractibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Behaviour problems in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Self-injurious behavior and Prader-Willi syndrome: behavioral forms and body locations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Emotional symptoms in Prader-Willi syndrome adolescents.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

A mouse model for Prader-Willi syndrome imprinting-centre mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V

Angelman syndrome: clinical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%28200022%2997%3A2%3C136%3A%3AAID-AJMG5%3E3.0.CO%3B2-V