(Q28271033)

1

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T E Adamson

2

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J L Resnick

3

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S Leff

4

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U Francke

6

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N A Jenkins

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N G Copeland

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C I Brannan

UBE3A/E6-AP mutations cause Angelman syndrome

9

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language of work or name

English

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publication date

May 1998

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published in

Nature Genetics

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volume

19

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issue

1

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page(s)

25-31

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cites work

1 reference

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

20 April 2017

1 reference

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

20 April 2017

1 reference

The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

20 April 2017

1 reference

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

20 April 2017

1 reference

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

20 April 2017

1 reference

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

20 April 2017

1 reference

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

20 April 2017

1 reference

Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells

21 January 2018

1 reference

Structure and expression of the mouse necdin gene. Identification of a postmitotic neuron-restrictive core promoter

21 January 2018

1 reference

An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

21 January 2018

1 reference

21 January 2018

1 reference

7 January 2021

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

7 January 2021

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

1 reference

7 January 2021

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

1 reference

7 January 2021

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

7 January 2021

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

1 reference

7 January 2021

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

7 January 2021

Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

1 reference

7 January 2021

Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus

1 reference

7 January 2021

Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N.

1 reference

7 January 2021

Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities

1 reference

7 January 2021

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

1 reference

7 January 2021

Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20.

1 reference

7 January 2021

Simplified mammalian DNA isolation procedure

1 reference

7 January 2021

Subtractive hybridization system using single-stranded phagemids with directional inserts

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0598-25

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

9590284

1 reference

Consolidated OpenCitations Corpus – April 2017