Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. (Q34314269)

1 August 2017

title

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

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1 August 2017

Buiting K

1

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1 August 2017

Saitoh S

2

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1 August 2017

Gross S

3

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1 August 2017

Dittrich B

4

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1 August 2017

Schwartz S

5

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1 August 2017

Nicholls RD

6

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1 August 2017

Horsthemke B

7

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1 August 2017

language of work or name

English

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publication date

1 April 1995

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1 August 2017

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1 August 2017

volume

9

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1 August 2017

issue

4

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1 August 2017

page(s)

395-400

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

1 August 2017

cites work

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https://api.crossref.org/works/10.1038%2FNG0495-395

DNA methylation and genomic imprinting

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0495-395

Allele-specific replication timing of imprinted gene regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-395

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-395

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0495-395

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Functional imprinting and epigenetic modification of the human SNRPN gene

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Position-effect variegation and the new biology of heterochromatin

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Methylation and imprinting: from host defense to gene regulation?

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Familial Prader-Willi syndrome with apparently normal chromosomes

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Use of yeast artificial chromosome clones for mapping and walking within human chromosome segment 18q21.3.

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification

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https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-395

7 January 2021

Identifiers

DOI

10.1038/NG0495-395

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Dimensions Publication ID

1 August 2017

1010978804

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