(Q24676443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

0 references

C C Glenn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

S Saitoh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M T Jong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M M Filbrandt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

U Surti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

D J Driscoll

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

R D Nicholls

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 February 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 October 2019

published in

1 reference

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14 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

335-346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

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

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Unusual features of CpG-rich (HTF) islands in the human alpha globin complex: association with non-functional pseudogenes and presence within the 3' portion of the zeta gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Cloned human snRNP proteins B and B' differ only in their carboxy-terminal part

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

The product of the H19 gene may function as an RNA

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Disruption of imprinting caused by deletion of the H19 gene region in mice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Expression of the SmN splicing protein is developmentally regulated in the rodent brain but not in the rodent heart

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Prader-Willi syndrome: consensus diagnostic criteria.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Mice lacking Snrpn expression show normal regulation of neuronal alternative splicing events

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

cDNA sequence of the rat U snRNP-associated protein N: description of a potential Sm epitope

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Uniparental paternal disomy in Angelman's syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Single pass sequencing and physical and genetic mapping of human brain cDNAs

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Expression of the tissue specific splicing protein SmN in neuronal cell lines and in regions of the brain with different splicing capacities

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

A paternal-specific methylation imprint marks the alleles of the mouse H19 gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914536

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

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Cytogenetic and molecular analysis in Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence

1 reference

12 December 2020

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

1 reference

12 December 2020

Ubiquitous expression and imprinting of Snrpn in the mouse

1 reference

12 December 2020

Identifiers

3234544

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3234544

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

8571960

2 references

Consolidated OpenCitations Corpus – April 2017

3234544

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571960%20AND%20SRC:MED&resulttype=core&format=json