(Q41924626)

14 October 2017

title

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients (English)

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14 October 2017

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Fridman C

1

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14 October 2017

Varela MC

2

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14 October 2017

Kok F

3

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14 October 2017

Diament A

4

1 reference

14 October 2017

Koiffmann CP

5

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14 October 2017

publication date

1 June 2000

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American Journal of Medical Genetics Part A

14 October 2017

published in

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14 October 2017

volume

92

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14 October 2017

issue

5

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14 October 2017

page(s)

322-327

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‘Puppet’ Children A Report on Three Cases

14 October 2017

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Clinical profile of Angelman syndrome at different ages

21 January 2018

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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

21 January 2018

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21 January 2018

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

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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Diagnosis of Angelman syndrome in infants

21 January 2018

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

21 January 2018

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UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

21 January 2018

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Is Angelman syndrome an alternate result of del(15)(q11q13)?

21 January 2018

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Uniparental paternal disomy in Angelman's syndrome

21 January 2018

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Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

21 January 2018

1 reference

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Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

21 January 2018

1 reference

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Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

21 January 2018

1 reference

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Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation

21 January 2018

1 reference

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The 'happy puppet' syndrome of Angelman: review of the clinical features

21 January 2018

1 reference

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

21 January 2018

1 reference

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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%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

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%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 January 2018

1 reference

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

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Angelman syndrome: clinical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Report of the Third International Workshop on Human Chromosome 15 Mapping 1996. October 25-27, 1996 in Vancouver B.C., Canada

21 January 2018

1 reference

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Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

On the prevalence of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Genotype and phenotype in Angelman syndrome caused by paternal UPD 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

Normal growth in Angelman syndrome due to paternal UPD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000619%2992%3A5%3C322%3A%3AAID-AJMG6%3E3.0.CO%3B2-Y

10.1002/1096-8628(20000619)92:5<322::AID-AJMG6>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

14 October 2017

1 reference