(Q28242397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7987392%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

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

1 reference

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29 October 2019

1 reference

1

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29 October 2019

Niels Tommerup

5

1 reference

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29 October 2019

author name string

Nakao M

2

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29 October 2019

Christian S

3

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29 October 2019

Orstavik KH

4

1 reference

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29 October 2019

Ledbetter DH

6

1 reference

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29 October 2019

Beaudet AL

7

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29 October 2019

language of work or name

English

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publication date

1 September 1994

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29 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7987392%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

volume

8

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29 October 2019

page(s)

52-58

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29 October 2019

issue

1

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https://scigraph.springernature.com/pub.10.1038/ng0994-52

29 October 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038/NG0994-52

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0994-52

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0994-52

Role for DNA methylation in genomic imprinting

21 April 2017

1 reference

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 April 2017

1 reference

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

21 January 2018

1 reference

Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

21 January 2018

1 reference

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

21 January 2018

1 reference

Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2

21 January 2018

1 reference

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

21 January 2018

1 reference

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

7 January 2021

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome

1 reference

7 January 2021

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome

1 reference

7 January 2021

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

1 reference

7 January 2021

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

7 January 2021

Exclusion of the GABAA-receptor beta 3 subunit gene as the Angelman's syndrome gene

1 reference

7 January 2021

DNA deletion and its parental origin in Angelman syndrome patients

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

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

1 reference

7 January 2021

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

PCR amplification and analysis of yeast artificial chromosomes

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Duplication of proximal 15q as a cause of Prader-Willi syndrome.

1 reference

7 January 2021

A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'

1 reference

7 January 2021

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene

1 reference

7 January 2021

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

7 January 2021

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

7 January 2021

Removal of repeated sequences from hybridisation probes

1 reference

7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

1 reference

7 January 2021

Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed-field gel electrophoresis

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG0994-52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7987392%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference